Variant report

Variant	nsv889119
Chromosome Location	chr7:120688463-120800837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1936)
CpG islands
(count:611)
Chromatin interactive
region (count:202)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1936 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:120719020-120719586	K562	blood:	n/a	n/a
2	ARID3A	chr7:120709444-120709898	K562	blood:	n/a	n/a
3	ARID3A	chr7:120800023-120800487	K562	blood:	n/a	n/a
4	ARID3A	chr7:120715862-120717615	K562	blood:	n/a	n/a
5	ARID3A	chr7:120724859-120725121	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:120721437-120721773	HepG2	liver:	n/a	n/a
7	ARID3A	chr7:120724896-120725031	K562	blood:	n/a	n/a
8	ARID3A	chr7:120719901-120720326	K562	blood:	n/a	n/a
9	ARID3A	chr7:120711748-120712087	K562	blood:	n/a	n/a
10	ARID3A	chr7:120720624-120722162	K562	blood:	n/a	n/a
11	ARID3A	chr7:120714923-120715159	K562	blood:	n/a	n/a
12	ARID3A	chr7:120723039-120723664	K562	blood:	n/a	n/a
13	ARID3A	chr7:120778432-120778625	K562	blood:	n/a	n/a
14	ARID3A	chr7:120689326-120689898	K562	blood:	n/a	n/a
15	ARID3A	chr7:120747983-120748273	K562	blood:	n/a	n/a
16	ARID3A	chr7:120735693-120736439	K562	blood:	n/a	chr7:120736063-120736079
17	ARID3A	chr7:120695431-120695493	K562	blood:	n/a	n/a
18	ARID3A	chr7:120709160-120709188	K562	blood:	n/a	n/a
19	ATF1	chr7:120778322-120778731	K562	blood:	n/a	n/a
20	ATF1	chr7:120716345-120716834	K562	blood:	n/a	n/a
21	ATF1	chr7:120721397-120721954	K562	blood:	n/a	n/a
22	ATF1	chr7:120689365-120689889	K562	blood:	n/a	n/a
23	ATF1	chr7:120799677-120800576	K562	blood:	n/a	n/a
24	ATF1	chr7:120741816-120741840	K562	blood:	n/a	n/a
25	ATF2	chr7:120778230-120778840	GM12878	blood:	n/a	n/a
26	ATF2	chr7:120778277-120778721	GM12878	blood:	n/a	n/a
27	ATF3	chr7:120715926-120716892	K562	blood:	n/a	n/a
28	ATF3	chr7:120778265-120778713	K562	blood:	n/a	n/a
29	ATF3	chr7:120723078-120723515	K562	blood:	n/a	n/a
30	ATF3	chr7:120800134-120800510	K562	blood:	n/a	n/a
31	ATF3	chr7:120716978-120717420	K562	blood:	n/a	n/a
32	BACH1	chr7:120722246-120722371	K562	blood:	n/a	n/a
33	BACH1	chr7:120736364-120736379	K562	blood:	n/a	n/a
34	BACH1	chr7:120771434-120771460	K562	blood:	n/a	n/a
35	BACH1	chr7:120724172-120724174	K562	blood:	n/a	n/a
36	BACH1	chr7:120705589-120705605	K562	blood:	n/a	n/a
37	BACH1	chr7:120689433-120689761	K562	blood:	n/a	n/a
38	BACH1	chr7:120779259-120779282	K562	blood:	n/a	n/a
39	BACH1	chr7:120698149-120698173	K562	blood:	n/a	n/a
40	BACH1	chr7:120723323-120723346	K562	blood:	n/a	n/a
41	BACH1	chr7:120716017-120716863	K562	blood:	n/a	chr7:120716591-120716605
42	BCL3	chr7:120716255-120716969	K562	blood:	n/a	n/a
43	BCLAF1	chr7:120716200-120717203	K562	blood:	n/a	n/a
44	BCLAF1	chr7:120720782-120722254	K562	blood:	n/a	n/a
45	BCLAF1	chr7:120716170-120717427	K562	blood:	n/a	n/a
46	BHLHE40	chr7:120712925-120713118	K562	blood:	n/a	n/a
47	BHLHE40	chr7:120723237-120723459	K562	blood:	n/a	n/a
48	BHLHE40	chr7:120715613-120717297	K562	blood:	n/a	n/a
49	BHLHE40	chr7:120710885-120711487	K562	blood:	n/a	n/a
50	BHLHE40	chr7:120689353-120689992	K562	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:120716269-120716319	MCF10A-Er-Src	breast:	n/a
2	chr7:120716269-120716319	MCF10A-Er-Src	breast:	n/a
3	chr7:120701829-120701879	NB4	blood:	n/a
4	chr7:120742600-120742650	NT2-D1	testis:	n/a
5	chr7:120716340-120716390	SK-N-SH	brain:	n/a
6	chr7:120701829-120701879	HCM	heart:	n/a
7	chr7:120704511-120704561	HCPEpiC	choroid plexus:	n/a
8	chr7:120702049-120702099	GM12892	blood:	n/a
9	chr7:120716269-120716319	ProgFib	skin:	n/a
10	chr7:120702049-120702099	HCF	heart:	n/a
11	chr7:120701117-120701167	SAEC	small airway:	n/a
12	chr7:120742600-120742650	HEK293	kidney:	embryo
13	chr7:120716340-120716390	HepG2	liver:	n/a
14	chr7:120721606-120721656	AG09319	gingival:	n/a
15	chr7:120689323-120689373	HUVEC	blood vessel:	n/a
16	chr7:120704511-120704561	ECC-1	luminal epithelium:	n/a
17	chr7:120742600-120742650	AG10803	skin:	n/a
18	chr7:120716269-120716319	NT2-D1	testis:	n/a
19	chr7:120716269-120716319	RPTEC	kidney:	n/a
20	chr7:120716269-120716319	SK-N-SH_RA	brain:	n/a
21	chr7:120721606-120721656	HPAEpiC	pulmonary alveolar:	n/a
22	chr7:120721606-120721656	HCT-116	colon:	n/a
23	chr7:120701117-120701167	AG09309	skin:	n/a
24	chr7:120704511-120704561	NB4	blood:	n/a
25	chr7:120742600-120742650	HepG2	liver:	n/a
26	chr7:120701829-120701879	MCF10A-Er-Src	breast:	n/a
27	chr7:120702049-120702099	HRCEpiC	kidney:	n/a
28	chr7:120721606-120721656	HEK293	kidney:	embryo
29	chr7:120716269-120716319	HRE	kidney:	n/a
30	chr7:120689323-120689373	NHDF-neo	bronchial:	n/a
31	chr7:120716269-120716319	HCF	heart:	n/a
32	chr7:120716269-120716319	Jurkat	blood:	n/a
33	chr7:120689323-120689373	CMK	blood:	n/a
34	chr7:120702049-120702099	T-47D	breast:	n/a
35	chr7:120721606-120721656	SK-N-SH	brain:	n/a
36	chr7:120701829-120701879	ProgFib	skin:	n/a
37	chr7:120716340-120716390	HPAEpiC	pulmonary alveolar:	n/a
38	chr7:120701829-120701879	MCF-7	breast:	n/a
39	chr7:120701117-120701167	HRE	kidney:	n/a
40	chr7:120716340-120716390	HRPEpiC	eye:	n/a
41	chr7:120716269-120716319	IMR90	lung:	fetal
42	chr7:120702049-120702099	HRE	kidney:	n/a
43	chr7:120742600-120742650	HRCEpiC	kidney:	n/a
44	chr7:120701829-120701879	AG09319	gingival:	n/a
45	chr7:120704511-120704561	HL-60	blood:	n/a
46	chr7:120716269-120716319	Hepatocyte	liver:	n/a
47	chr7:120721606-120721656	ECC-1	luminal epithelium:	n/a
48	chr7:120701117-120701167	RPTEC	kidney:	n/a
49	chr7:120721606-120721656	NHDF-neo	bronchial:	n/a
50	chr7:120689323-120689373	K562	blood:	n/a

(count:202 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr7:120684359..120686005-chr7:120688473..120690743,2	MCF-7	breast:
2	chr7:120695659..120698795-chr7:120708123..120711912,4	K562	blood:
3	chr7:120701560..120707048-chr7:120714809..120721907,9	K562	blood:
4	chr7:120711582..120714500-chr7:120752923..120755177,2	K562	blood:
5	chr7:120745612..120749676-chr7:120751128..120754629,5	K562	blood:
6	chr7:120776773..120780025-chr7:120780036..120783879,5	K562	blood:
7	chr7:120743098..120745031-chr7:120746646..120748514,3	K562	blood:
8	chr7:120445663..120446844-chr7:120747170..120748613,7	K562	blood:
9	chr7:120695659..120698795-chr7:120708123..120711912,4	K562	blood:
10	chr7:120701560..120707048-chr7:120714809..120721907,9	K562	blood:
11	chr7:120661476..120663248-chr7:120721625..120723394,2	K562	blood:
12	chr7:120775298..120777729-chr7:120784980..120787236,2	K562	blood:
13	chr7:120629049..120631832-chr7:120732281..120734682,3	K562	blood:
14	chr7:120692653..120696514-chr7:120719994..120724840,4	K562	blood:
15	chr7:120445860..120446622-chr7:120721053..120722016,4	MCF-7	breast:
16	chr7:120589698..120592018-chr7:120727687..120730624,2	K562	blood:
17	chr7:120795773..120797824-chr7:120798929..120800429,2	K562	blood:
18	chr7:120703590..120707044-chr7:120707756..120711872,8	K562	blood:
19	chr7:120684341..120686164-chr7:120720780..120722996,2	K562	blood:
20	chr7:120745709..120748191-chr7:120751470..120754629,3	K562	blood:
21	chr7:120765203..120766976-chr7:120768801..120771594,2	K562	blood:
22	chr7:120691054..120694014-chr7:120698104..120700209,3	K562	blood:
23	chr7:120627916..120631226-chr7:120738829..120742113,4	K562	blood:
24	chr7:120747233..120749938-chr7:120774365..120776379,3	K562	blood:
25	chr7:120736479..120739918-chr7:120741792..120745937,5	K562	blood:
26	chr7:120698569..120700981-chr7:120701062..120703872,2	K562	blood:
27	chr7:120776773..120780025-chr7:120780036..120783879,5	K562	blood:
28	chr7:120756476..120758682-chr7:120764326..120765844,2	K562	blood:
29	chr7:120735763..120738966-chr7:120742400..120745937,3	K562	blood:
30	chr7:120446148..120447002-chr7:120721020..120721715,2	K562	blood:
31	chr7:120719872..120722285-chr8:115706379..115707879,2	K562	blood:
32	chr7:120672832..120675246-chr7:120709384..120712309,2	K562	blood:
33	chr7:120753655..120756147-chr7:120756373..120757912,2	K562	blood:
34	chr7:120718771..120721283-chr7:120791408..120793421,2	K562	blood:
35	chr7:120697778..120699427-chr7:120715523..120718079,2	K562	blood:
36	chr7:120701678..120704158-chr7:120722578..120725881,3	K562	blood:
37	chr7:120628746..120630644-chr7:120748164..120750985,2	K562	blood:
38	chr7:120734442..120735992-chr7:120738253..120740799,2	K562	blood:
39	chr7:120682875..120684877-chr7:120691015..120693627,2	K562	blood:
40	chr7:120766835..120767476-chr7:121392579..121393363,2	MCF-7	breast:
41	chr7:120773227..120776221-chr7:120776532..120780949,5	K562	blood:
42	chr7:120588429..120592994-chr7:120712560..120717211,6	K562	blood:
43	chr7:120685095..120691151-chr7:120712234..120720635,10	K562	blood:
44	chr7:120765203..120766976-chr7:120768801..120771594,2	K562	blood:
45	chr7:120688120..120689909-chr7:120713674..120716576,3	K562	blood:
46	chr7:120626686..120628740-chr7:120746587..120749245,2	K562	blood:
47	chr7:120688120..120689909-chr7:120713674..120716576,3	K562	blood:
48	chr7:120687893..120691265-chr7:120719839..120722836,4	K562	blood:
49	chr7:120680122..120681952-chr7:120727272..120728827,2	K562	blood:
50	chr7:120774713..120776221-chr7:120777852..120779454,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ING3-6	chr7:120702382-120702597	expReg_chr7_8599_+
2	lnc-ING3-5	chr7:120690445-120690496	NONHSAT122999

No data

Variant related genes	Relation type
CPED1	TF binding region
HMGN1P18	TF binding region
RNA5SP241	TF binding region
CPED1	CpG island
HMGN1P18	CpG island
RNA5SP241	CpG island
ENSG00000196937	chromatin interactions
ENSG00000212628	chromatin interactions
ENSG00000106034	chromatin interactions
ENSG00000202225	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000071243	chromatin interactions
ENSG00000234927	chromatin interactions

Extended variants
information (count: 4128 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:4128 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2160010	chr7:120688463-120688464	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576091325	chr7:120688499-120688500	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112174774	chr7:120688504-120688505	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs150742608	chr7:120688565-120688566	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561786855	chr7:120688571-120688572	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs151168394	chr7:120688572-120688573	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs77663474	chr7:120688642-120688643	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562983729	chr7:120688679-120688680	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2110276	chr7:120688703-120688704	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564694334	chr7:120688723-120688724	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533503233	chr7:120688749-120688750	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533294145	chr7:120688750-120688751	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149498508	chr7:120688782-120688783	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs529267715	chr7:120688802-120688803	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs181150530	chr7:120688815-120688816	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs2160011	chr7:120688875-120688876	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs185312541	chr7:120688926-120688927	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs62470954	chr7:120688934-120688935	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570601865	chr7:120688965-120688966	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs117250777	chr7:120688979-120688980	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs533815639	chr7:120689028-120689029	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs2538486	chr7:120689034-120689035	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs34438433	chr7:120689046-120689047	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs202073888	chr7:120689047-120689048	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs75416987	chr7:120689048-120689049	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs535446023	chr7:120689105-120689106	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs75813229	chr7:120689182-120689183	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552000811	chr7:120689224-120689225	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs572088750	chr7:120689274-120689275	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs77798902	chr7:120689296-120689297	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs564552946	chr7:120689309-120689310	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs118137764	chr7:120689324-120689325	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs543579077	chr7:120689380-120689381	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs188742977	chr7:120689386-120689387	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs563662773	chr7:120689394-120689395	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs115416846	chr7:120689441-120689442	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs567109354	chr7:120689451-120689452	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559693756	chr7:120689483-120689484	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs116008473	chr7:120689530-120689531	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs62470955	chr7:120689531-120689532	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146033990	chr7:120689576-120689577	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs7784837	chr7:120689577-120689578	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs111592955	chr7:120689613-120689614	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs569974822	chr7:120689628-120689629	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs367994004	chr7:120689644-120689645	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs76147824	chr7:120689675-120689676	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs181543594	chr7:120689683-120689684	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs565648504	chr7:120689748-120689749	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs116617328	chr7:120689784-120689785	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs186419009	chr7:120689822-120689823	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:1212 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120673400-120689200	Weak transcription	HSMMtube	muscle
2	chr7:120673800-120694200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:120682000-120689200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:120682000-120689400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:120682000-120689400	Weak transcription	Osteobl	bone
6	chr7:120682200-120695800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
8	chr7:120682600-120692000	Weak transcription	Fetal Stomach	stomach
9	chr7:120682800-120700800	Weak transcription	Fetal Kidney	kidney
10	chr7:120683200-120689400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:120683200-120689400	Weak transcription	Right Ventricle	heart
12	chr7:120683800-120689400	Weak transcription	Ovary	ovary
13	chr7:120683800-120689400	Weak transcription	Psoas Muscle	Psoas
14	chr7:120683800-120690800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:120684000-120694000	Weak transcription	Small Intestine	intestine
16	chr7:120684200-120689400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:120684400-120689200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:120684400-120689200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:120684400-120689400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:120684400-120689400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:120684400-120689600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:120685000-120689600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:120685600-120690000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr7:120686800-120690000	Weak transcription	Placenta	Placenta
25	chr7:120687000-120689600	Strong transcription	Adipose Nuclei	Adipose
26	chr7:120687000-120689800	Strong transcription	HSMM	muscle
27	chr7:120687200-120688600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:120687400-120689400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:120687400-120689400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:120687600-120689200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:120687600-120689400	Weak transcription	Hela-S3	cervix
32	chr7:120687800-120689200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:120687800-120689400	Strong transcription	Left Ventricle	heart
34	chr7:120687800-120689800	Strong transcription	NHLF	lung
35	chr7:120687800-120706600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:120688000-120688600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:120688000-120688600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:120688000-120689000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:120688000-120690200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr7:120688200-120689000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
41	chr7:120688400-120689000	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:120688400-120689000	Genic enhancers	K562	blood
43	chr7:120688400-120689200	Weak transcription	Liver	Liver
44	chr7:120688400-120689200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr7:120688400-120690000	Weak transcription	NHDF-Ad	bronchial
46	chr7:120688400-120690800	Weak transcription	Aorta	Aorta
47	chr7:120688600-120689400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:120688600-120689400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:120688600-120689800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:120689000-120689200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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