Variant report

Variant	nsv8038
Chromosome Location	chr7:6744717-6748111
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	chr7:6746508-6747088	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:6746582-6746922	K562	blood:	n/a	n/a
3	ARID3A	chr7:6747987-6748210	HepG2	liver:	n/a	n/a
4	ATF3	chr7:6746455-6746774	K562	blood:	n/a	n/a
5	ATF3	chr7:6746338-6746843	A549	lung:	n/a	chr7:6746443-6746452
6	ATF3	chr7:6746344-6746860	A549	lung:	n/a	chr7:6746443-6746452
7	BATF	chr7:6745480-6745720	GM12878	blood:	n/a	n/a
8	BCLAF1	chr7:6746183-6746931	GM12878	blood:	n/a	chr7:6746574-6746587 chr7:6746324-6746333 chr7:6746577-6746590 chr7:6746318-6746331 chr7:6746657-6746670
9	BHLHE40	chr7:6746435-6747008	K562	blood:	n/a	n/a
10	BHLHE40	chr7:6745621-6745991	K562	blood:	n/a	n/a
11	BHLHE40	chr7:6746430-6746875	HepG2	liver:	n/a	n/a
12	BRCA1	chr7:6746338-6747069	GM12878	blood:	n/a	n/a
13	BRCA1	chr7:6746551-6747053	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr7:6746299-6746907	HepG2	liver:	n/a	n/a
15	BRCA1	chr7:6746365-6746883	H1-hESC	embryonic stem cell:	n/a	n/a
16	BRCA1	chr7:6745893-6746041	HepG2	liver:	n/a	n/a
17	CBX3	chr7:6746593-6747092	K562	blood:	n/a	n/a
18	CBX3	chr7:6745362-6746144	K562	blood:	n/a	n/a
19	CBX3	chr7:6746385-6747206	K562	blood:	n/a	n/a
20	CCNT2	chr7:6746165-6746778	K562	blood:	n/a	n/a
21	CEBPB	chr7:6745724-6745796	Hela-S3	cervix:	n/a	n/a
22	CHD1	chr7:6746278-6746741	GM12878	blood:	n/a	n/a
23	CHD2	chr7:6745687-6747056	GM12878	blood:	n/a	n/a
24	CHD2	chr7:6745687-6746766	K562	blood:	n/a	n/a
25	CHD2	chr7:6746279-6746724	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr7:6745927-6746701	HepG2	liver:	n/a	n/a
27	CHD2	chr7:6746096-6747076	Hela-S3	cervix:	n/a	n/a
28	CREB1	chr7:6745917-6746759	A549	lung:	n/a	chr7:6746010-6746023
29	CREB1	chr7:6746457-6746641	A549	lung:	n/a	n/a
30	CTCF	chr7:6746631-6746712	GM12878	blood:	n/a	n/a
31	CTCF	chr7:6746574-6746602	Fibrobl	skin:	n/a	n/a
32	CTCF	chr7:6745626-6745767	K562	blood:	n/a	n/a
33	CTCF	chr7:6746650-6746867	K562	blood:	n/a	n/a
34	CTCF	chr7:6746420-6746570	GM12875	blood:	n/a	n/a
35	CUX1	chr7:6746604-6746983	K562	blood:	n/a	n/a
36	E2F4	chr7:6746484-6746922	MCF10A-Er-Src	breast:	n/a	chr7:6746622-6746631 chr7:6746590-6746599 chr7:6746662-6746672
37	E2F6	chr7:6746349-6746844	H1-hESC	embryonic stem cell:	n/a	chr7:6746445-6746454 chr7:6746622-6746631 chr7:6746590-6746599 chr7:6746662-6746672 chr7:6746469-6746484
38	E2F6	chr7:6746321-6747010	A549	lung:	n/a	chr7:6746445-6746454 chr7:6746622-6746631 chr7:6746590-6746599 chr7:6746662-6746672 chr7:6746469-6746484
39	E2F6	chr7:6746458-6746781	K562	blood:	n/a	chr7:6746622-6746631 chr7:6746590-6746599 chr7:6746662-6746672 chr7:6746469-6746484
40	E2F6	chr7:6745570-6746947	K562	blood:	n/a	chr7:6746445-6746454 chr7:6746622-6746631 chr7:6746590-6746599 chr7:6746662-6746672 chr7:6746469-6746484
41	E2F6	chr7:6745848-6746758	K562	blood:	n/a	chr7:6746445-6746454 chr7:6746622-6746631 chr7:6746590-6746599 chr7:6746662-6746672 chr7:6746469-6746484
42	EBF1	chr7:6746462-6747018	GM12878	blood:	n/a	chr7:6746699-6746710
43	EBF1	chr7:6746339-6746678	GM12878	blood:	n/a	n/a
44	EGR1	chr7:6745451-6746045	K562	blood:	n/a	chr7:6745897-6745910 chr7:6745894-6745908 chr7:6745897-6745910 chr7:6745898-6745907 chr7:6745898-6745909
45	EGR1	chr7:6745487-6746021	K562	blood:	n/a	chr7:6745897-6745910 chr7:6745894-6745908 chr7:6745897-6745910 chr7:6745898-6745907 chr7:6745898-6745909
46	EGR1	chr7:6745830-6745988	GM12878	blood:	n/a	chr7:6745897-6745910 chr7:6745894-6745908 chr7:6745897-6745910 chr7:6745898-6745907 chr7:6745898-6745909
47	ELF1	chr7:6746279-6747099	MCF-7	breast:	n/a	chr7:6746336-6746345 chr7:6746636-6746649 chr7:6746577-6746589
48	ELF1	chr7:6745942-6746256	K562	blood:	n/a	n/a
49	ELF1	chr7:6745750-6746916	GM12878	blood:	n/a	chr7:6746336-6746345 chr7:6746274-6746286 chr7:6746636-6746649 chr7:6746577-6746589
50	ELF1	chr7:6745481-6745851	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6746580-6746630	A549	lung:	n/a
2	chr7:6746580-6746630	A549	lung:	n/a
3	chr7:6746605-6746655	AG09309	skin:	n/a
4	chr7:6746837-6746887	BJ	skin:	n/a
5	chr7:6746599-6746649	BE2_C	brain:	n/a
6	chr7:6746799-6746849	AG09319	gingival:	n/a
7	chr7:6746977-6747027	HepG2	liver:	n/a
8	chr7:6746650-6746700	T-47D	breast:	n/a
9	chr7:6746650-6746700	MCF-7	breast:	n/a
10	chr7:6746650-6746700	PFSK-1	brain:	n/a
11	chr7:6746599-6746649	ECC-1	luminal epithelium:	n/a
12	chr7:6746580-6746630	Hela-S3	cervix:	n/a
13	chr7:6746650-6746700	HCPEpiC	choroid plexus:	n/a
14	chr7:6746977-6747027	BE2_C	brain:	n/a
15	chr7:6746208-6746258	ProgFib	skin:	n/a
16	chr7:6746580-6746630	GM12892	blood:	n/a
17	chr7:6746580-6746630	HepG2	liver:	n/a
18	chr7:6746650-6746700	HRCEpiC	kidney:	n/a
19	chr7:6746605-6746655	CMK	blood:	n/a
20	chr7:6746837-6746887	GM12878	blood:	n/a
21	chr7:6746837-6746887	HIPEpiC	eye:	n/a
22	chr7:6746837-6746887	SK-N-SH_RA	brain:	n/a
23	chr7:6746208-6746258	ECC-1	luminal epithelium:	n/a
24	chr7:6746837-6746887	HCF	heart:	n/a
25	chr7:6746599-6746649	HUVEC	blood vessel:	n/a
26	chr7:6746799-6746849	PrEC	prostate:	n/a
27	chr7:6745725-6745775	GM12878	blood:	n/a
28	chr7:6746688-6746738	SK-N-SH	brain:	n/a
29	chr7:6746688-6746738	AG04449	skin:	fetal
30	chr7:6746837-6746887	GM06990	blood:	n/a
31	chr7:6745725-6745775	BE2_C	brain:	n/a
32	chr7:6746837-6746887	HCPEpiC	choroid plexus:	n/a
33	chr7:6746558-6746608	HEEpiC	esophagus:	n/a
34	chr7:6745725-6745775	HIPEpiC	eye:	n/a
35	chr7:6746799-6746849	AG09309	skin:	n/a
36	chr7:6745725-6745775	SK-N-SH	brain:	n/a
37	chr7:6745969-6746019	T-47D	breast:	n/a
38	chr7:6746558-6746608	AG10803	skin:	n/a
39	chr7:6746580-6746630	HEEpiC	esophagus:	n/a
40	chr7:6746715-6746765	HEK293	kidney:	embryo
41	chr7:6746208-6746258	K562	blood:	n/a
42	chr7:6745969-6746019	HCPEpiC	choroid plexus:	n/a
43	chr7:6746837-6746887	AG04449	skin:	fetal
44	chr7:6746650-6746700	NB4	blood:	n/a
45	chr7:6746688-6746738	HL-60	blood:	n/a
46	chr7:6746799-6746849	ProgFib	skin:	n/a
47	chr7:6746599-6746649	U87	brain:	n/a
48	chr7:6746599-6746649	ovcar-3	ovarian:	n/a
49	chr7:6746715-6746765	NHDF-neo	bronchial:	n/a
50	chr7:6746580-6746630	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:6746161..6747688-chr7:6768318..6771249,2	MCF-7	breast:
2	chr7:6700299..6703221-chr7:6744305..6746051,2	MCF-7	breast:
3	chr7:6681243..6682856-chr7:6746246..6748831,2	K562	blood:
4	chr7:6676193..6679067-chr7:6744810..6746794,4	K562	blood:
5	chr7:6736883..6740896-chr7:6741673..6744991,4	MCF-7	breast:
6	chr12:7052777..7053414-chr7:6746050..6746651,2	Hela-S3	cervix:
7	chr7:6744871..6747873-chr7:6767656..6771321,4	K562	blood:
8	chr7:6675962..6678642-chr7:6744432..6748032,4	MCF-7	breast:
9	chr7:6745463..6748475-chr7:6767656..6769994,3	K562	blood:
10	chr17:59484738..59486572-chr7:6745021..6746847,2	MCF-7	breast:
11	chr7:6745224..6747442-chr7:6767898..6770902,3	MCF-7	breast:
12	chr7:6628194..6631157-chr7:6744707..6746398,2	MCF-7	breast:
13	chr7:6743479..6745149-chr7:6745557..6748493,2	MCF-7	breast:
14	chr2:179315296..179317868-chr7:6745682..6748008,2	MCF-7	breast:
15	chr7:6729955..6731866-chr7:6746781..6748682,2	MCF-7	breast:
16	chr7:6733958..6736454-chr7:6743190..6744750,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC073343.1-1	chr7:6747932-6748026	ENSG00000228010.1
2	lnc-AC073343.1-1	chr7:6746704-6748672	NONHSAT119061

Variant related genes	Relation type
ZNF12	TF binding region
PMS2CL	TF binding region
ZNF12	CpG island
PMS2CL	CpG island
ENSG00000146576	chromatin interactions
ENSG00000164631	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000204311	chromatin interactions
ENSG00000265245	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000232581	chromatin interactions
ENSG00000205903	chromatin interactions
ENSG00000187953	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000180228	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372128442	chr7:6744725-6744726	ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs118191125	chr7:6744745-6744746	ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs531832369	chr7:6744771-6744772	ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs369183897	chr7:6744774-6744775	ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs530988016	chr7:6744811-6744812	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs543222824	chr7:6744845-6744846	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs534170071	chr7:6744848-6744849	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs372598591	chr7:6744891-6744892	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs561501686	chr7:6744919-6744920	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs549968309	chr7:6744920-6744921	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs368996637	chr7:6744934-6744935	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs570688832	chr7:6744935-6744936	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs7798471	chr7:6744957-6744958	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs558669640	chr7:6744970-6744971	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs535790807	chr7:6744978-6744979	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs532553605	chr7:6745021-6745022	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs190851574	chr7:6745029-6745030	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs183408467	chr7:6745047-6745048	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs536982273	chr7:6745093-6745094	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs555926321	chr7:6745181-6745182	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs186564851	chr7:6745194-6745195	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs567168999	chr7:6745222-6745223	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs547743021	chr7:6745311-6745312	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs373126595	chr7:6745318-6745319	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs141715693	chr7:6745328-6745329	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs577533878	chr7:6745342-6745343	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs539910387	chr7:6745343-6745344	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs71978935	chr7:6745348-6745349	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs28759303	chr7:6745354-6745355	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs386709841	chr7:6745358-6745359	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs57140510	chr7:6745361-6745362	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs74405535	chr7:6745380-6745381	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs377696864	chr7:6745383-6745384	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs575881922	chr7:6745442-6745443	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs558013891	chr7:6745445-6745446	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs371318477	chr7:6745485-6745486	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs61574402	chr7:6745488-6745489	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs528699992	chr7:6745502-6745503	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs576610557	chr7:6745570-6745571	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs565399620	chr7:6745586-6745587	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs532526769	chr7:6745655-6745656	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs550936022	chr7:6745707-6745708	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs569196188	chr7:6745733-6745734	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs574183201	chr7:6745751-6745752	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs530709733	chr7:6745753-6745754	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs189838044	chr7:6745760-6745761	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs567078316	chr7:6745820-6745821	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs73331249	chr7:6745858-6745859	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552767975	chr7:6745863-6745864	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs576548455	chr7:6745891-6745892	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6721400-6745200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr7:6721600-6745400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:6722400-6745000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
4	chr7:6722600-6745000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:6723600-6745000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:6723600-6745400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:6723800-6745000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:6724000-6744800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:6725000-6744800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:6725800-6745000	ZNF genes & repeats	NH-A	brain
11	chr7:6726000-6744800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr7:6726000-6745000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:6726000-6745000	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr7:6726000-6745200	ZNF genes & repeats	A549	lung
15	chr7:6726200-6745000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr7:6726200-6745000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr7:6726200-6745000	ZNF genes & repeats	Fetal Lung	lung
18	chr7:6726400-6744800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr7:6726600-6745000	ZNF genes & repeats	GM12878-XiMat	blood
20	chr7:6730800-6745000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:6731200-6745400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:6733200-6745200	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr7:6733600-6744800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:6738000-6744800	Strong transcription	Fetal Thymus	thymus
25	chr7:6738800-6744800	ZNF genes & repeats	Fetal Stomach	stomach
26	chr7:6739400-6745600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:6739600-6745400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:6740200-6745200	ZNF genes & repeats	K562	blood
29	chr7:6740600-6745200	ZNF genes & repeats	HSMM	muscle
30	chr7:6741000-6745000	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr7:6741400-6744800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:6741600-6744800	ZNF genes & repeats	Fetal Kidney	kidney
33	chr7:6741800-6744800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:6741800-6745000	ZNF genes & repeats	Osteobl	bone
35	chr7:6742000-6744800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:6742000-6745000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr7:6742000-6745600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:6742800-6745000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr7:6742800-6745200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:6743000-6744800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr7:6743000-6744800	Strong transcription	Brain Anterior Caudate	brain
42	chr7:6743000-6744800	Strong transcription	Placenta	Placenta
43	chr7:6743600-6744800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:6743600-6744800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr7:6743600-6744800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:6743600-6744800	Weak transcription	Brain Angular Gyrus	brain
47	chr7:6743600-6744800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:6743600-6744800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr7:6743600-6744800	Weak transcription	Left Ventricle	heart
50	chr7:6743600-6744800	Strong transcription	Ovary	ovary

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