Variant report

Variant	nsv609025
Chromosome Location	chr7:150811765-150825087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:150821194-150821336	HepG2	liver:	n/a	n/a
2	ATF2	chr7:150822627-150822937	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr7:150821049-150821367	K562	blood:	n/a	n/a
4	ATF3	chr7:150821001-150821421	A549	lung:	n/a	n/a
5	BHLHE40	chr7:150821058-150821358	GM12878	blood:	n/a	n/a
6	BHLHE40	chr7:150821049-150821364	K562	blood:	n/a	n/a
7	BRCA1	chr7:150821114-150821311	HepG2	liver:	n/a	n/a
8	CBX3	chr7:150820849-150821470	K562	blood:	n/a	n/a
9	CCNT2	chr7:150821124-150821417	K562	blood:	n/a	n/a
10	CCNT2	chr7:150820381-150820581	K562	blood:	n/a	n/a
11	CEBPB	chr7:150813259-150813310	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr7:150822630-150822999	H1-hESC	embryonic stem cell:	n/a	chr7:150822688-150822698 chr7:150822827-150822837
13	CHD1	chr7:150821156-150821230	GM12878	blood:	n/a	n/a
14	CHD2	chr7:150821071-150821357	GM12878	blood:	n/a	n/a
15	CHD2	chr7:150821165-150821370	K562	blood:	n/a	n/a
16	CHD2	chr7:150822682-150823016	H1-hESC	embryonic stem cell:	n/a	chr7:150822688-150822698 chr7:150822827-150822837
17	CHD2	chr7:150821126-150821260	HepG2	liver:	n/a	n/a
18	CHD2	chr7:150821030-150821353	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr7:150821047-150821342	Hela-S3	cervix:	n/a	n/a
20	CREB1	chr7:150821003-150821308	A549	lung:	n/a	n/a
21	CTBP2	chr7:150820968-150821345	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTBP2	chr7:150822445-150823067	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr7:150821120-150821270	GM06990	blood:	n/a	chr7:150821197-150821218 chr7:150821198-150821211 chr7:150821153-150821171 chr7:150821195-150821213 chr7:150821155-150821168
24	CTCF	chr7:150821160-150821310	GM12872	blood:	n/a	chr7:150821197-150821218 chr7:150821198-150821211 chr7:150821195-150821213
25	CTCF	chr7:150812820-150812970	HMEC	breast:	n/a	n/a
26	CTCF	chr7:150821040-150821190	HCM	heart:	n/a	chr7:150821153-150821171 chr7:150821155-150821168
27	CTCF	chr7:150821100-150821250	Caco-2	colon:	n/a	chr7:150821197-150821218 chr7:150821198-150821211 chr7:150821153-150821171 chr7:150821195-150821213 chr7:150821155-150821168
28	CTCF	chr7:150821060-150821210	HFF-Myc	foreskin:	n/a	chr7:150821153-150821171 chr7:150821155-150821168
29	CTCF	chr7:150822540-150822690	HMF	breast:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
30	CTCF	chr7:150821120-150821270	GM12873	blood:	n/a	chr7:150821197-150821218 chr7:150821198-150821211 chr7:150821153-150821171 chr7:150821195-150821213 chr7:150821155-150821168
31	CTCF	chr7:150821120-150821270	K562	blood:	n/a	chr7:150821197-150821218 chr7:150821198-150821211 chr7:150821153-150821171 chr7:150821195-150821213 chr7:150821155-150821168
32	CTCF	chr7:150821023-150821374	K562	blood:	n/a	chr7:150821197-150821218 chr7:150821198-150821211 chr7:150821153-150821171 chr7:150821195-150821213 chr7:150821155-150821168
33	CTCF	chr7:150822560-150822710	HMF	breast:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
34	CTCF	chr7:150819494-150819626	MCF-7	breast:	n/a	chr7:150819572-150819580
35	CTCF	chr7:150811941-150811993	GM19239	blood:	n/a	n/a
36	CTCF	chr7:150812609-150812667	GM10248	blood:	n/a	n/a
37	CTCF	chr7:150821045-150821339	GM10248	blood:	n/a	chr7:150821197-150821218 chr7:150821198-150821211 chr7:150821153-150821171 chr7:150821195-150821213 chr7:150821155-150821168
38	CTCF	chr7:150822520-150822670	GM12871	blood:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
39	CTCF	chr7:150820962-150821417	A549	lung:	n/a	chr7:150821197-150821218 chr7:150821198-150821211 chr7:150821153-150821171 chr7:150821195-150821213 chr7:150821155-150821168
40	CTCF	chr7:150821040-150821352	ProgFib	skin:	n/a	chr7:150821197-150821218 chr7:150821198-150821211 chr7:150821153-150821171 chr7:150821195-150821213 chr7:150821155-150821168
41	CTCF	chr7:150822580-150822730	HRE	kidney:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
42	CTCF	chr7:150811946-150812014	LNCaP	prostate:	n/a	n/a
43	CTCF	chr7:150821040-150821190	WI-38	lung:	n/a	chr7:150821153-150821171 chr7:150821155-150821168
44	CTCF	chr7:150822460-150822610	HAc	cerebellar:	n/a	chr7:150822591-150822604 chr7:150822594-150822607 chr7:150822588-150822601 chr7:150822591-150822604
45	CTCF	chr7:150821049-150821345	GM10266	blood:	n/a	chr7:150821197-150821218 chr7:150821198-150821211 chr7:150821153-150821171 chr7:150821195-150821213 chr7:150821155-150821168
46	CTCF	chr7:150812500-150812650	GM12871	blood:	n/a	n/a
47	CTCF	chr7:150818980-150819130	BJ	skin:	n/a	n/a
48	CTCF	chr7:150821540-150821690	GM12872	blood:	n/a	n/a
49	CTCF	chr7:150821120-150821270	HUVEC	blood vessel:	n/a	chr7:150821197-150821218 chr7:150821198-150821211 chr7:150821153-150821171 chr7:150821195-150821213 chr7:150821155-150821168
50	CTCF	chr7:150819460-150819610	HCM	heart:	n/a	chr7:150819572-150819580

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150815320-150815370	NHDF-neo	bronchial:	n/a
2	chr7:150815320-150815370	NHDF-neo	bronchial:	n/a
3	chr7:150822987-150823037	HMEC	breast:	n/a
4	chr7:150824021-150824071	HL-60	blood:	n/a
5	chr7:150822006-150822056	HRPEpiC	eye:	n/a
6	chr7:150818877-150818927	BJ	skin:	n/a
7	chr7:150823386-150823436	U87	brain:	n/a
8	chr7:150816834-150816884	NT2-D1	testis:	n/a
9	chr7:150822655-150822705	GM06990	blood:	n/a
10	chr7:150818362-150818412	AG09309	skin:	n/a
11	chr7:150818264-150818314	PrEC	prostate:	n/a
12	chr7:150816834-150816884	ECC-1	luminal epithelium:	n/a
13	chr7:150815320-150815370	HIPEpiC	eye:	n/a
14	chr7:150818362-150818412	NT2-D1	testis:	n/a
15	chr7:150815391-150815441	AG10803	skin:	n/a
16	chr7:150822902-150822952	H1-hESC	embryonic stem cell:	embryo
17	chr7:150818877-150818927	HMEC	breast:	n/a
18	chr7:150819920-150819970	U87	brain:	n/a
19	chr7:150818877-150818927	HNPCEpiC	eye:	n/a
20	chr7:150818877-150818927	K562	blood:	n/a
21	chr7:150819920-150819970	T-47D	breast:	n/a
22	chr7:150823386-150823436	BE2_C	brain:	n/a
23	chr7:150819920-150819970	SAEC	small airway:	n/a
24	chr7:150820526-150820576	AoSMC	blood vessel:	n/a
25	chr7:150819920-150819970	ovcar-3	ovarian:	n/a
26	chr7:150812282-150812332	HCPEpiC	choroid plexus:	n/a
27	chr7:150816834-150816884	SK-N-SH	brain:	n/a
28	chr7:150817197-150817247	HL-60	blood:	n/a
29	chr7:150822006-150822056	HCT-116	colon:	n/a
30	chr7:150817446-150817496	HEK293	kidney:	embryo
31	chr7:150815445-150815495	HCF	heart:	n/a
32	chr7:150820526-150820576	AG09309	skin:	n/a
33	chr7:150818264-150818314	GM12892	blood:	n/a
34	chr7:150817197-150817247	SK-N-SH_RA	brain:	n/a
35	chr7:150822655-150822705	HIPEpiC	eye:	n/a
36	chr7:150817197-150817247	HEK293	kidney:	embryo
37	chr7:150812282-150812332	HIPEpiC	eye:	n/a
38	chr7:150824021-150824071	H1-hESC	embryonic stem cell:	embryo
39	chr7:150822902-150822952	IMR90	lung:	fetal
40	chr7:150822987-150823037	CMK	blood:	n/a
41	chr7:150819920-150819970	PFSK-1	brain:	n/a
42	chr7:150822902-150822952	NH-A	brain:	n/a
43	chr7:150817446-150817496	SKMC	muscle:	n/a
44	chr7:150817197-150817247	HUVEC	blood vessel:	n/a
45	chr7:150820344-150820394	HEK293	kidney:	embryo
46	chr7:150818264-150818314	NT2-D1	testis:	n/a
47	chr7:150819554-150819604	ovcar-3	ovarian:	n/a
48	chr7:150822902-150822952	SK-N-MC	brain:	n/a
49	chr7:150824021-150824071	PFSK-1	brain:	n/a
50	chr7:150819434-150819484	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150811813..150813371-chr7:150929013..150931225,2	MCF-7	breast:
2	chr7:150820727..150822566-chr7:150869328..150870314,21	MCF-7	breast:
3	chr7:150820570..150821671-chr7:150942151..150943243,4	K562	blood:
4	chr7:150819690..150821218-chr7:150869813..150872209,2	K562	blood:
5	chr7:150811889..150814867-chr7:150929281..150931083,2	MCF-7	breast:
6	chr1:149857695..149859290-chr7:150818040..150819740,2	MCF-7	breast:
7	chr7:150817042..150818782-chr7:150819382..150821039,2	MCF-7	breast:
8	chr7:150822692..150823787-chr7:150869509..150870193,3	MCF-7	breast:
9	chr7:150821110..150821685-chr7:150854852..150855801,2	K562	blood:
10	chr7:150823122..150823820-chr7:150869370..150869890,2	K562	blood:
11	chr7:150818782..150822666-chr7:150823705..150827002,4	MCF-7	breast:
12	chr7:150821997..150823437-chr7:150869432..150870307,6	MCF-7	breast:
13	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
14	chr7:150817194..150819802-chr7:150827702..150830037,3	MCF-7	breast:
15	chr7:150813337..150816221-chr7:150868567..150872033,3	K562	blood:
16	chr7:150709937..150710499-chr7:150820826..150821700,2	MCF-7	breast:
17	chr7:150820770..150821764-chr7:151000263..151001132,6	MCF-7	breast:
18	chr7:150811800..150813328-chr7:150923060..150925511,2	MCF-7	breast:
19	chr7:150820753..150821766-chr7:150872510..150873067,3	MCF-7	breast:
20	chr7:150820767..150821525-chr7:151038392..151039150,2	K562	blood:
21	chr7:150820743..150821644-chr7:151000579..151001161,3	MCF-7	breast:
22	chr7:150807803..150810009-chr7:150811928..150814974,4	MCF-7	breast:
23	chr7:150820799..150821593-chr7:150941510..150942032,2	K562	blood:
24	chr7:150822023..150822998-chr7:151000299..151001077,2	MCF-7	breast:
25	chr7:150811393..150813033-chr7:150871276..150873059,2	MCF-7	breast:
26	chr7:150820141..150822604-chr7:150863393..150866266,2	MCF-7	breast:
27	chr7:150821781..150824555-chr7:150874826..150877607,2	K562	blood:
28	chr7:150821015..150821776-chr7:150872303..150873090,3	K562	blood:
29	chr7:150820949..150822720-chr7:150827782..150829322,2	MCF-7	breast:
30	chr7:150820757..150821780-chr7:150864455..150865884,4	MCF-7	breast:
31	chr7:150819307..150820060-chr7:150869417..150870164,3	MCF-7	breast:
32	chr7:150820748..150821377-chr7:150941500..150942022,2	MCF-7	breast:
33	chr7:150812900..150814092-chr7:150821403..150822090,3	K562	blood:
34	chr7:150810394..150811144-chr7:150820727..150821473,2	MCF-7	breast:
35	chr7:150821158..150821740-chr7:150998350..150999126,2	K562	blood:
36	chr7:150817485..150820417-chr7:150938642..150940545,2	K562	blood:
37	chr7:150818782..150822666-chr7:150823705..150827002,4	MCF-7	breast:
38	chr7:150819273..150820409-chr7:150869428..150870253,7	MCF-7	breast:
39	chr7:150821142..150821739-chr7:151008663..151009201,2	K562	blood:
40	chr7:150817042..150818782-chr7:150819382..150821039,2	MCF-7	breast:
41	chr7:150809552..150813512-chr7:150971172..150974114,3	MCF-7	breast:
42	chr7:150823153..150825845-chr7:150864127..150866768,5	MCF-7	breast:
43	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:
44	chr7:150065484..150068056-chr7:150811875..150813765,2	MCF-7	breast:
45	chr7:150819780..150822617-chr7:150940406..150943194,3	MCF-7	breast:
46	chr10:8094111..8096395-chr7:150814186..150816873,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC4A2-2	chr7:150816284-150816341	NONHSAT124193
2	lnc-SLC4A2-2	chr7:150817074-150817232	NONHSAT124193
3	lnc-SLC4A2-2	chr7:150817607-150817820	NONHSAT124193

Variant related genes	Relation type
AGAP3	TF binding region
AGAP3	CpG island
ENSG00000164900	chromatin interactions
ENSG00000033050	chromatin interactions
ENSG00000033100	chromatin interactions
ENSG00000107485	chromatin interactions
ENSG00000013374	chromatin interactions
ENSG00000214022	chromatin interactions
ENSG00000133612	chromatin interactions
ENSG00000196456	chromatin interactions
ENSG00000197308	chromatin interactions
ENSG00000243350	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000082014	chromatin interactions

Extended variants
information (count: 580 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13234429	chr7:150811765-150811766	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs559864876	chr7:150811768-150811769	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs532111259	chr7:150811844-150811845	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs186971180	chr7:150811876-150811877	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs13308269	chr7:150812290-150812291	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs13308180	chr7:150812291-150812292	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs13308234	chr7:150812392-150812393	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs568961134	chr7:150812486-150812487	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs6971966	chr7:150812493-150812494	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs183535982	chr7:150812565-150812566	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs113603956	chr7:150812583-150812584	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs186779875	chr7:150812652-150812653	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs13308357	chr7:150812660-150812661	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs13308364	chr7:150812674-150812675	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs17857291	chr7:150812683-150812684	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs553611118	chr7:150812692-150812693	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs10272090	chr7:150812739-150812740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10242437	chr7:150812787-150812788	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558574635	chr7:150812795-150812796	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs575287583	chr7:150812796-150812797	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs544309696	chr7:150812799-150812800	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs199698187	chr7:150812831-150812832	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs148007067	chr7:150812859-150812860	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs141962119	chr7:150812860-150812861	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs34946440	chr7:150812914-150812915	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs540081582	chr7:150812987-150812988	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs369552196	chr7:150813015-150813016	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs532486489	chr7:150813031-150813032	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs545809787	chr7:150813034-150813035	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs562469223	chr7:150813057-150813058	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs554533879	chr7:150813066-150813067	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs548329791	chr7:150813109-150813110	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs561660562	chr7:150813142-150813143	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs530302294	chr7:150813160-150813161	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs111905839	chr7:150813169-150813170	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs76225039	chr7:150813258-150813259	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs567151467	chr7:150813272-150813273	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs538950227	chr7:150813315-150813316	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs57988951	chr7:150813358-150813359	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs145005794	chr7:150813370-150813371	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs568927162	chr7:150813401-150813402	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs537919736	chr7:150813403-150813404	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs189956939	chr7:150813426-150813427	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs6977445	chr7:150813435-150813436	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs535913311	chr7:150813438-150813439	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs533980676	chr7:150813462-150813463	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs553728201	chr7:150813523-150813524	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs10276050	chr7:150813538-150813539	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs142220148	chr7:150813581-150813582	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs58375709	chr7:150813595-150813596	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1103 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150785000-150812000	Weak transcription	Aorta	Aorta
2	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
3	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
4	chr7:150808000-150814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:150808200-150813600	Weak transcription	Liver	Liver
6	chr7:150808200-150815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:150808400-150812800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:150808600-150812800	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:150808600-150813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:150808600-150814000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:150808600-150814800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:150808600-150815000	Weak transcription	Brain Substantia Nigra	brain
13	chr7:150808800-150813000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:150809000-150811800	Genic enhancers	Fetal Muscle Leg	muscle
15	chr7:150809400-150812200	Weak transcription	Dnd41	blood
16	chr7:150810200-150811800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr7:150810200-150811800	Enhancers	Placenta	Placenta
18	chr7:150810200-150811800	Enhancers	HSMMtube	muscle
19	chr7:150810200-150812000	Enhancers	HUVEC	blood vessel
20	chr7:150810400-150811800	Flanking Active TSS	NH-A	brain
21	chr7:150810400-150813000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr7:150810600-150811800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr7:150810600-150811800	Flanking Active TSS	HMEC	breast
24	chr7:150810600-150812000	Enhancers	Stomach Smooth Muscle	stomach
25	chr7:150810600-150813600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr7:150810800-150811800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:150811000-150811800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:150811000-150811800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr7:150811000-150811800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:150811000-150811800	Bivalent Enhancer	Fetal Brain Male	brain
31	chr7:150811000-150811800	Flanking Active TSS	Osteobl	bone
32	chr7:150811000-150812400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:150811000-150812800	Weak transcription	Brain Anterior Caudate	brain
34	chr7:150811200-150811800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
35	chr7:150811200-150811800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:150811200-150811800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:150811200-150811800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
38	chr7:150811200-150812000	Flanking Active TSS	Colonic Mucosa	Colon
39	chr7:150811200-150816200	Weak transcription	NHDF-Ad	bronchial
40	chr7:150811400-150811800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:150811400-150811800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr7:150811400-150811800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:150811400-150811800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:150811400-150811800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:150811400-150811800	Enhancers	Fetal Heart	heart
46	chr7:150811400-150811800	Enhancers	Fetal Muscle Trunk	muscle
47	chr7:150811400-150811800	Genic enhancers	NHLF	lung
48	chr7:150811400-150812200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:150811400-150812400	Active TSS	Small Intestine	intestine
50	chr7:150811400-150812800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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