Variant report

Variant	esv3398542
Chromosome Location	chr1:228326754-228329302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:773)
CpG islands
(count:1040)
Chromatin interactive
region (count:34)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:773 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:228327736-228328143	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:228327355-228328049	K562	blood:	n/a	n/a
3	ATF1	chr1:228327338-228328156	K562	blood:	n/a	chr1:228327964-228327978
4	ATF2	chr1:228327323-228328250	GM12878	blood:	n/a	chr1:228327964-228327978
5	ATF2	chr1:228327380-228328106	GM12878	blood:	n/a	chr1:228327964-228327978
6	ATF2	chr1:228327442-228328160	H1-hESC	embryonic stem cell:	n/a	chr1:228327964-228327978
7	ATF2	chr1:228327336-228328088	H1-hESC	embryonic stem cell:	n/a	chr1:228327964-228327978
8	ATF3	chr1:228327739-228328065	HepG2	liver:	n/a	chr1:228327748-228327768
9	ATF3	chr1:228327399-228328220	K562	blood:	n/a	chr1:228327609-228327629 chr1:228327748-228327768
10	ATF3	chr1:228327722-228328159	K562	blood:	n/a	chr1:228327748-228327768
11	ATF3	chr1:228327749-228328074	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr1:228327635-228328171	K562	blood:	n/a	n/a
13	BACH1	chr1:228327402-228328199	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCLAF1	chr1:228327725-228328195	GM12878	blood:	n/a	chr1:228327788-228327796
15	BHLHE40	chr1:228327442-228328356	GM12878	blood:	n/a	chr1:228328108-228328124
16	BHLHE40	chr1:228327428-228328420	K562	blood:	n/a	chr1:228328381-228328397 chr1:228328108-228328124
17	BHLHE40	chr1:228327589-228328151	HepG2	liver:	n/a	chr1:228328108-228328124
18	BRCA1	chr1:228327550-228328079	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr1:228327536-228327639	HepG2	liver:	n/a	n/a
20	BRCA1	chr1:228327918-228328118	HepG2	liver:	n/a	n/a
21	BRCA1	chr1:228327498-228328106	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr1:228327489-228327689	GM12878	blood:	n/a	n/a
23	CBX3	chr1:228328899-228329679	K562	blood:	n/a	n/a
24	CBX3	chr1:228326994-228328524	K562	blood:	n/a	n/a
25	CCNT2	chr1:228327463-228328559	K562	blood:	n/a	chr1:228327876-228327885
26	CCNT2	chr1:228328903-228329268	K562	blood:	n/a	n/a
27	CEBPB	chr1:228327402-228327799	GM12878	blood:	n/a	n/a
28	CEBPB	chr1:228327462-228328032	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr1:228327567-228327839	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr1:228327277-228328113	K562	blood:	n/a	n/a
31	CEBPB	chr1:228327524-228328000	HepG2	liver:	n/a	n/a
32	CEBPB	chr1:228327230-228327256	K562	blood:	n/a	n/a
33	CEBPB	chr1:228327504-228328011	K562	blood:	n/a	n/a
34	CEBPD	chr1:228327377-228328259	K562	blood:	n/a	n/a
35	CEBPD	chr1:228327868-228328154	HepG2	liver:	n/a	n/a
36	CHD1	chr1:228327017-228329831	IMR90	lung:	n/a	n/a
37	CHD1	chr1:228327337-228329387	GM12878	blood:	n/a	n/a
38	CHD2	chr1:228327410-228328229	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr1:228327420-228328380	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr1:228329275-228329599	K562	blood:	n/a	n/a
41	CHD2	chr1:228327312-228328228	K562	blood:	n/a	n/a
42	CHD2	chr1:228327537-228328168	HepG2	liver:	n/a	n/a
43	CHD2	chr1:228328855-228329237	GM12878	blood:	n/a	n/a
44	CHD2	chr1:228327443-228328315	GM12878	blood:	n/a	n/a
45	CREB1	chr1:228327184-228328620	GM12878	blood:	n/a	chr1:228327618-228327631
46	CREB1	chr1:228327232-228328243	ECC-1	luminal epithelium:	n/a	chr1:228327618-228327631
47	CREB1	chr1:228327165-228328483	HepG2	liver:	n/a	chr1:228327618-228327631
48	CREB1	chr1:228327179-228328288	GM12878	blood:	n/a	chr1:228327618-228327631
49	CREB1	chr1:228327348-228328326	H1-hESC	embryonic stem cell:	n/a	chr1:228327618-228327631
50	CREB1	chr1:228327369-228328097	A549	lung:	n/a	chr1:228327618-228327631

(count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228327934-228327984	K562	blood:	n/a
2	chr1:228327934-228327984	NHBE	bronchial:	n/a
3	chr1:228327729-228327779	H1-hESC	embryonic stem cell:	embryo
4	chr1:228327934-228327984	K562	blood:	n/a
5	chr1:228327934-228327984	NHBE	bronchial:	n/a
6	chr1:228327729-228327779	H1-hESC	embryonic stem cell:	embryo
7	chr1:228327428-228327478	NHDF-neo	bronchial:	n/a
8	chr1:228328509-228328559	T-47D	breast:	n/a
9	chr1:228327936-228327986	AoSMC	blood vessel:	n/a
10	chr1:228327778-228327828	HepG2	liver:	n/a
11	chr1:228327680-228327730	ProgFib	skin:	n/a
12	chr1:228327680-228327730	HMEC	breast:	n/a
13	chr1:228328509-228328559	HAEpiC	amniotic membrane:	n/a
14	chr1:228328228-228328278	HRE	kidney:	n/a
15	chr1:228327465-228327515	HAEpiC	amniotic membrane:	n/a
16	chr1:228328880-228328930	LNCaP	prostate:	n/a
17	chr1:228328483-228328533	NHDF-neo	bronchial:	n/a
18	chr1:228327742-228327792	AG10803	skin:	n/a
19	chr1:228327778-228327828	AG09319	gingival:	n/a
20	chr1:228327778-228327828	HEEpiC	esophagus:	n/a
21	chr1:228327714-228327764	Hela-S3	cervix:	n/a
22	chr1:228327527-228327577	NT2-D1	testis:	n/a
23	chr1:228327936-228327986	NT2-D1	testis:	n/a
24	chr1:228327729-228327779	Hepatocyte	liver:	n/a
25	chr1:228327456-228327506	HRPEpiC	eye:	n/a
26	chr1:228327936-228327986	PFSK-1	brain:	n/a
27	chr1:228327680-228327730	T-47D	breast:	n/a
28	chr1:228328483-228328533	HAEpiC	amniotic membrane:	n/a
29	chr1:228327729-228327779	BJ	skin:	n/a
30	chr1:228327936-228327986	MCF10A-Er-Src	breast:	n/a
31	chr1:228327465-228327515	HEEpiC	esophagus:	n/a
32	chr1:228327456-228327506	HL-60	blood:	n/a
33	chr1:228327778-228327828	SK-N-MC	brain:	n/a
34	chr1:228327936-228327986	T-47D	breast:	n/a
35	chr1:228327936-228327986	LNCaP	prostate:	n/a
36	chr1:228327714-228327764	HRCEpiC	kidney:	n/a
37	chr1:228327742-228327792	LNCaP	prostate:	n/a
38	chr1:228327680-228327730	MCF10A-Er-Src	breast:	n/a
39	chr1:228327680-228327730	HRPEpiC	eye:	n/a
40	chr1:228327936-228327986	HUVEC	blood vessel:	n/a
41	chr1:228328880-228328930	AG09309	skin:	n/a
42	chr1:228328509-228328559	SK-N-MC	brain:	n/a
43	chr1:228327742-228327792	HUVEC	blood vessel:	n/a
44	chr1:228327428-228327478	Jurkat	blood:	n/a
45	chr1:228327680-228327730	PrEC	prostate:	n/a
46	chr1:228327747-228327797	SK-N-SH_RA	brain:	n/a
47	chr1:228327428-228327478	NHBE	bronchial:	n/a
48	chr1:228328228-228328278	HCPEpiC	choroid plexus:	n/a
49	chr1:228327465-228327515	U87	brain:	n/a
50	chr1:228328880-228328930	Hepatocyte	liver:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228319215..228325156-chr1:228326279..228328957,6	K562	blood:
2	chr1:228267667..228275106-chr1:228326600..228331394,10	K562	blood:
3	chr1:228288649..228293430-chr1:228325997..228329591,7	K562	blood:
4	chr1:228286712..228292079-chr1:228327501..228330420,5	MCF-7	breast:
5	chr1:228326283..228328223-chr1:228644101..228647229,3	K562	blood:
6	chr1:228276334..228278860-chr1:228325574..228327520,2	K562	blood:
7	chr1:228293945..228298682-chr1:228326047..228331152,9	K562	blood:
8	chr1:228284520..228292111-chr1:228324853..228335412,14	K562	blood:
9	chr1:228327311..228328278-chr1:228353352..228353936,3	K562	blood:
10	chr1:228328125..228328820-chr1:228353335..228354006,2	MCF-7	breast:
11	chr1:228269306..228272326-chr1:228326148..228329488,5	MCF-7	breast:
12	chr1:228270141..228272243-chr1:228325927..228327960,2	MCF-7	breast:
13	chr1:228269794..228271921-chr1:228327972..228330804,3	MCF-7	breast:
14	chr1:228325086..228327857-chr1:228592809..228594638,2	K562	blood:
15	chr1:228327795..228330213-chr1:228593794..228595426,3	K562	blood:
16	chr1:228327365..228329534-chr1:228645028..228646794,2	MCF-7	breast:
17	chr1:228328019..228328956-chr8:93977378..93978060,2	Hela-S3	cervix:
18	chr1:228327603..228328346-chr16:2204822..2205763,2	Hela-S3	cervix:
19	chr1:228326723..228329419-chr1:228644101..228647035,3	K562	blood:
20	chr1:228328826..228331169-chr1:228395338..228396936,2	K562	blood:
21	chr1:228327693..228328321-chr6:146055580..146056537,2	Hela-S3	cervix:
22	chr1:228293945..228298846-chr1:228325398..228330582,13	K562	blood:
23	chr1:228327962..228328503-chr14:76126771..76127749,2	Hela-S3	cervix:
24	chr1:228327593..228329181-chr1:228644179..228646860,2	MCF-7	breast:
25	chr1:228290240..228294197-chr1:228325970..228329742,3	MCF-7	breast:
26	chr1:228296521..228297564-chr1:228327615..228328500,3	Hela-S3	cervix:
27	chr1:228318795..228319443-chr1:228326879..228327649,2	K562	blood:
28	chr1:228294705..228298588-chr1:228325821..228329680,6	MCF-7	breast:
29	chr1:228269915..228273320-chr1:228326449..228329096,4	K562	blood:
30	chr1:228327198..228328051-chr1:228353308..228354013,3	MCF-7	breast:
31	chr1:228294222..228297212-chr1:228327852..228330069,2	MCF-7	breast:
32	chr1:228326695..228329093-chr1:228572036..228574543,2	K562	blood:
33	chr1:228326053..228331395-chr1:228462710..228467617,6	K562	blood:
34	chr1:228328463..228331528-chr1:228462308..228464210,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJC2-2	chr1:228327980-228328064	NONHSAT009981
2	lnc-GJC2-2	chr1:228328825-228329534	NONHSAT009981

No data

Variant related genes	Relation type
ENSG00000227625	TF binding region
GUK1	TF binding region
ENSG00000227625	CpG island
GUK1	CpG island
ENSG00000205133	chromatin interactions
ENSG00000206630	chromatin interactions
ENSG00000133935	chromatin interactions
ENSG00000154358	chromatin interactions
ENSG00000260260	chromatin interactions
ENSG00000143793	chromatin interactions
ENSG00000181873	chromatin interactions
ENSG00000162910	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000227625	chromatin interactions
ENSG00000264944	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000269934	chromatin interactions
ENSG00000231563	chromatin interactions
ENSG00000112425	chromatin interactions
ENSG00000143761	chromatin interactions
ENSG00000154370	chromatin interactions
ENSG00000131653	chromatin interactions
ENSG00000119685	chromatin interactions
ENSG00000270104	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145063056	chr1:228326755-228326756	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs555368148	chr1:228326787-228326788	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs575434519	chr1:228326794-228326795	Weak transcription Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs558640527	chr1:228326814-228326815	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs572182010	chr1:228326851-228326852	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs541169699	chr1:228326866-228326867	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs73095404	chr1:228326869-228326870	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs187099146	chr1:228326925-228326926	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs370975854	chr1:228326949-228326950	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs543335713	chr1:228326958-228326959	Weak transcription Enhancers Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs557916560	chr1:228327042-228327043	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs117370743	chr1:228327136-228327137	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs532374398	chr1:228327141-228327142	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs552155284	chr1:228327142-228327143	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs559378470	chr1:228327145-228327146	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs528552988	chr1:228327146-228327147	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs548319813	chr1:228327191-228327192	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs370898116	chr1:228327202-228327203	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs568548695	chr1:228327259-228327260	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs537669663	chr1:228327260-228327261	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs550967098	chr1:228327345-228327346	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs571129213	chr1:228327378-228327379	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs191549051	chr1:228327415-228327416	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs558578363	chr1:228327494-228327495	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs572118601	chr1:228327537-228327538	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs140448166	chr1:228327589-228327590	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs567515110	chr1:228327622-228327623	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs151078231	chr1:228327624-228327625	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs58192196	chr1:228327626-228327627	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs375990407	chr1:228327639-228327640	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs543624611	chr1:228327646-228327647	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs34042912	chr1:228327659-228327660	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs563389027	chr1:228327681-228327682	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs577075677	chr1:228327698-228327699	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
35	rs545731417	chr1:228327739-228327740	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
36	rs559316161	chr1:228327756-228327757	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
37	rs117653080	chr1:228327805-228327806	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs577786331	chr1:228327818-228327819	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs368798661	chr1:228327828-228327829	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs577978600	chr1:228327857-228327858	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs116709961	chr1:228327878-228327879	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs562234860	chr1:228327908-228327909	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs530963162	chr1:228327937-228327938	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs377227555	chr1:228327987-228327988	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
45	rs4653908	chr1:228327999-228328000	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570999013	chr1:228328016-228328017	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
47	rs533664536	chr1:228328017-228328018	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
48	rs538018394	chr1:228328024-228328025	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
49	rs373692070	chr1:228328049-228328050	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
50	rs547345882	chr1:228328054-228328055	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228318800-228327000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:228318800-228327000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:228324000-228327200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:228324400-228327000	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:228325000-228327200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:228325200-228327000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:228325200-228327200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:228325200-228327200	Weak transcription	Thymus	Thymus
9	chr1:228325800-228327000	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:228325800-228327000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:228325800-228327000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:228325800-228327000	Weak transcription	Fetal Thymus	thymus
13	chr1:228325800-228327200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:228326000-228326800	Enhancers	K562	blood
15	chr1:228326000-228327000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:228326000-228327000	Enhancers	GM12878-XiMat	blood
17	chr1:228326000-228327200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:228326200-228327000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:228326200-228327200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:228326400-228327000	Enhancers	Primary B cells from cord blood	blood
21	chr1:228326600-228327200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr1:228326800-228327000	Weak transcription	K562	blood
23	chr1:228326800-228327200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:228326800-228327200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr1:228326800-228327200	Enhancers	Placenta	Placenta
26	chr1:228327000-228327200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:228327000-228327200	Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr1:228327000-228327200	Active TSS	Primary B cells from cord blood	blood
29	chr1:228327000-228327200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr1:228327000-228327200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:228327000-228327200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:228327000-228327200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:228327000-228327200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr1:228327000-228327200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr1:228327000-228327200	Enhancers	Fetal Thymus	thymus
36	chr1:228327000-228327200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr1:228327000-228327200	Active TSS	GM12878-XiMat	blood
38	chr1:228327000-228327400	Enhancers	Spleen	Spleen
39	chr1:228327000-228327600	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:228327000-228327600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:228327000-228327600	Flanking Active TSS	Dnd41	blood
45	chr1:228327000-228328000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:228327000-228328000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:228327000-228328400	Active TSS	Brain Cingulate Gyrus	brain
48	chr1:228327000-228328400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:228327000-228328600	Active TSS	Brain Anterior Caudate	brain
50	chr1:228327000-228328600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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