Variant report

Variant	esv3335126
Chromosome Location	chr7:39989577-39991875
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	chr7:39991137-39991565	HepG2	liver:	n/a	n/a
2	ATF2	chr7:39988181-39990121	GM12878	blood:	n/a	n/a
3	ATF2	chr7:39989525-39990022	GM12878	blood:	n/a	n/a
4	BACH1	chr7:39989782-39989879	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr7:39989596-39989936	GM12878	blood:	n/a	n/a
6	BCL11A	chr7:39989551-39990003	GM12878	blood:	n/a	chr7:39989938-39989951
7	BCL11A	chr7:39989569-39989907	GM12878	blood:	n/a	n/a
8	BCL3	chr7:39989559-39990015	A549	lung:	n/a	chr7:39989938-39989951
9	BCL3	chr7:39988778-39990038	GM12878	blood:	n/a	chr7:39990008-39990017 chr7:39989461-39989470 chr7:39989107-39989116 chr7:39989462-39989475 chr7:39989460-39989473 chr7:39989457-39989470 chr7:39989938-39989951 chr7:39989421-39989430 chr7:39989458-39989467 chr7:39989459-39989472 chr7:39989464-39989473
10	BCLAF1	chr7:39988575-39990198	GM12878	blood:	n/a	chr7:39990008-39990017 chr7:39990144-39990153 chr7:39989461-39989470 chr7:39989107-39989116 chr7:39989462-39989475 chr7:39989460-39989473 chr7:39989457-39989470 chr7:39989938-39989951 chr7:39989421-39989430 chr7:39989458-39989467 chr7:39989459-39989472 chr7:39989464-39989473 chr7:39990147-39990156
11	BCLAF1	chr7:39990833-39991549	GM12878	blood:	n/a	n/a
12	BCLAF1	chr7:39991025-39991531	GM12878	blood:	n/a	n/a
13	BCLAF1	chr7:39988557-39990046	GM12878	blood:	n/a	chr7:39990008-39990017 chr7:39989461-39989470 chr7:39989107-39989116 chr7:39989462-39989475 chr7:39989460-39989473 chr7:39989457-39989470 chr7:39989938-39989951 chr7:39989421-39989430 chr7:39989458-39989467 chr7:39989459-39989472 chr7:39989464-39989473
14	BHLHE40	chr7:39990238-39990381	K562	blood:	n/a	n/a
15	BHLHE40	chr7:39991187-39991428	GM12878	blood:	n/a	n/a
16	BHLHE40	chr7:39988791-39990038	K562	blood:	n/a	chr7:39989452-39989468 chr7:39989459-39989475 chr7:39989457-39989473
17	BHLHE40	chr7:39988761-39990023	GM12878	blood:	n/a	chr7:39989452-39989468 chr7:39989459-39989475 chr7:39989457-39989473
18	BHLHE40	chr7:39991058-39991549	K562	blood:	n/a	n/a
19	BRCA1	chr7:39991212-39992274	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr7:39991726-39991826	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr7:39988609-39990172	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr7:39989680-39989844	HepG2	liver:	n/a	n/a
23	BRCA1	chr7:39989734-39989832	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr7:39989508-39989907	GM12878	blood:	n/a	n/a
25	CBX3	chr7:39989542-39989867	K562	blood:	n/a	n/a
26	CBX3	chr7:39988766-39990151	K562	blood:	n/a	n/a
27	CCNT2	chr7:39988676-39991582	K562	blood:	n/a	chr7:39989792-39989801 chr7:39989902-39989911
28	CEBPB	chr7:39991082-39993478	Hela-S3	cervix:	n/a	chr7:39992576-39992587 chr7:39992576-39992589 chr7:39992971-39992982
29	CEBPB	chr7:39991249-39991314	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr7:39988815-39990356	HepG2	liver:	n/a	n/a
31	CEBPB	chr7:39988683-39990536	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr7:39989720-39989924	K562	blood:	n/a	n/a
33	CEBPD	chr7:39988734-39990007	HepG2	liver:	n/a	n/a
34	CEBPD	chr7:39988713-39989984	K562	blood:	n/a	n/a
35	CEBPD	chr7:39989494-39989750	HepG2	liver:	n/a	n/a
36	CHD1	chr7:39988238-39992105	GM12878	blood:	n/a	chr7:39989417-39989427
37	CHD1	chr7:39990898-39991845	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr7:39990508-39990646	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr7:39989879-39990303	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr7:39988142-39993006	IMR90	lung:	n/a	chr7:39989417-39989427
41	CHD2	chr7:39988733-39989992	HepG2	liver:	n/a	chr7:39989417-39989427
42	CHD2	chr7:39991033-39991452	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr7:39988584-39990020	K562	blood:	n/a	chr7:39989417-39989427
44	CHD2	chr7:39991035-39991042	K562	blood:	n/a	n/a
45	CHD2	chr7:39988561-39990347	GM12878	blood:	n/a	chr7:39989417-39989427
46	CHD2	chr7:39991147-39991499	HepG2	liver:	n/a	n/a
47	CHD2	chr7:39988739-39991659	Hela-S3	cervix:	n/a	chr7:39989417-39989427
48	CHD2	chr7:39991046-39991698	GM12878	blood:	n/a	n/a
49	CHD2	chr7:39988704-39990184	H1-hESC	embryonic stem cell:	n/a	chr7:39989417-39989427
50	CREB1	chr7:39988804-39990030	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:39991463-39991513	AG09309	skin:	n/a
2	chr7:39991463-39991513	AG09309	skin:	n/a
3	chr7:39991463-39991513	ECC-1	luminal epithelium:	n/a
4	chr7:39991217-39991267	IMR90	lung:	fetal
5	chr7:39989867-39989917	NT2-D1	testis:	n/a
6	chr7:39990729-39990779	AG04450	lung:	fetal
7	chr7:39989867-39989917	HPAEpiC	pulmonary alveolar:	n/a
8	chr7:39989723-39989773	RPTEC	kidney:	n/a
9	chr7:39991463-39991513	SK-N-SH_RA	brain:	n/a
10	chr7:39991463-39991513	AG10803	skin:	n/a
11	chr7:39989860-39989910	Hela-S3	cervix:	n/a
12	chr7:39989862-39989912	HCT-116	colon:	n/a
13	chr7:39990532-39990582	NT2-D1	testis:	n/a
14	chr7:39989544-39989594	PFSK-1	brain:	n/a
15	chr7:39990042-39990092	GM19239	blood:	n/a
16	chr7:39989867-39989917	RPTEC	kidney:	n/a
17	chr7:39990042-39990092	AG09309	skin:	n/a
18	chr7:39990544-39990594	HRCEpiC	kidney:	n/a
19	chr7:39989862-39989912	NB4	blood:	n/a
20	chr7:39989723-39989773	HPAEpiC	pulmonary alveolar:	n/a
21	chr7:39989723-39989773	SAEC	small airway:	n/a
22	chr7:39990544-39990594	HEK293	kidney:	embryo
23	chr7:39990532-39990582	BJ	skin:	n/a
24	chr7:39991463-39991513	AoSMC	blood vessel:	n/a
25	chr7:39989860-39989910	PrEC	prostate:	n/a
26	chr7:39989544-39989594	SK-N-SH	brain:	n/a
27	chr7:39990544-39990594	HepG2	liver:	n/a
28	chr7:39990042-39990092	IMR90	lung:	fetal
29	chr7:39989860-39989910	HRE	kidney:	n/a
30	chr7:39990042-39990092	HPAEpiC	pulmonary alveolar:	n/a
31	chr7:39990042-39990092	HMEC	breast:	n/a
32	chr7:39991463-39991513	ovcar-3	ovarian:	n/a
33	chr7:39990544-39990594	Caco-2	colon:	n/a
34	chr7:39990544-39990594	IMR90	lung:	fetal
35	chr7:39990544-39990594	HL-60	blood:	n/a
36	chr7:39989723-39989773	PANC-1	pancreas:	n/a
37	chr7:39989867-39989917	BJ	skin:	n/a
38	chr7:39989544-39989594	HNPCEpiC	eye:	n/a
39	chr7:39990532-39990582	H1-hESC	embryonic stem cell:	embryo
40	chr7:39989862-39989912	Caco-2	colon:	n/a
41	chr7:39989723-39989773	BE2_C	brain:	n/a
42	chr7:39990544-39990594	Hepatocyte	liver:	n/a
43	chr7:39989723-39989773	NHDF-neo	bronchial:	n/a
44	chr7:39991217-39991267	HRCEpiC	kidney:	n/a
45	chr7:39989723-39989773	AG04449	skin:	fetal
46	chr7:39989544-39989594	HPAEpiC	pulmonary alveolar:	n/a
47	chr7:39991217-39991267	GM12878	blood:	n/a
48	chr7:39989862-39989912	AG10803	skin:	n/a
49	chr7:39990532-39990582	ProgFib	skin:	n/a
50	chr7:39990729-39990779	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:39987721..39990242-chr7:40174056..40176267,2	MCF-7	breast:
2	chr5:180236713..180237305-chr7:39989209..39989914,2	Hela-S3	cervix:
3	chr13:115079770..115080277-chr7:39988952..39989607,2	HCT-116	colon:
4	chr20:48598768..48599760-chr7:39989242..39989944,2	Hela-S3	cervix:
5	chr22:39713147..39715672-chr7:39989128..39991236,2	MCF-7	breast:
6	chr7:39989010..39992398-chr7:40024722..40029040,5	MCF-7	breast:
7	chr7:39991743..39994324-chr7:40009939..40012634,2	K562	blood:
8	chr19:48824897..48825730-chr7:39988705..39989640,2	NB4	blood:
9	chr5:36876363..36877049-chr7:39989868..39990637,2	Hela-S3	cervix:
10	chr1:117909739..117910357-chr7:39988909..39989757,2	Hela-S3	cervix:
11	chr7:39989088..39989799-chr9:5437668..5438233,2	Hela-S3	cervix:
12	chr19:39897400..39897939-chr7:39988698..39989697,2	Hela-S3	cervix:
13	chr7:39989281..39990257-chr9:4679240..4680185,2	Hela-S3	cervix:
14	chr7:39605012..39607338-chr7:39986740..39989686,2	K562	blood:
15	chr11:76155227..76155947-chr7:39989290..39990183,2	Hela-S3	cervix:
16	chr7:39663090..39665724-chr7:39988469..39990285,2	MCF-7	breast:
17	chr7:39987485..39989678-chr7:40173138..40176244,4	K562	blood:
18	chr11:96122465..96123203-chr7:39988642..39989631,2	Hela-S3	cervix:
19	chr7:5569837..5570419-chr7:39990754..39991673,2	Hela-S3	cervix:
20	chr7:39985235..39991458-chr7:40172332..40176244,8	K562	blood:
21	chr14:92587219..92588097-chr7:39989268..39989812,2	Hela-S3	cervix:
22	chr6:26157666..26158376-chr7:39988958..39989905,3	Hela-S3	cervix:
23	chr14:96968408..96969093-chr7:39989276..39989838,2	Hela-S3	cervix:
24	chr7:39987318..39990027-chr8:101962750..101965742,2	MCF-7	breast:
25	chr10:75011864..75012841-chr7:39989467..39990350,2	NB4	blood:
26	chr16:85060770..85061475-chr7:39989435..39989944,2	Hela-S3	cervix:
27	chr1:41156987..41157841-chr7:39988968..39989713,2	NB4	blood:

Variant related genes	Relation type
CDK13	TF binding region
ENSG00000259826	TF binding region
CDK13	CpG island
ENSG00000259826	CpG island
ENSG00000131446	chromatin interactions
ENSG00000090060	chromatin interactions
ENSG00000198162	chromatin interactions
ENSG00000227172	chromatin interactions
ENSG00000273061	chromatin interactions
ENSG00000255135	chromatin interactions
ENSG00000065883	chromatin interactions
ENSG00000183340	chromatin interactions
ENSG00000124216	chromatin interactions
ENSG00000105479	chromatin interactions
ENSG00000183648	chromatin interactions
ENSG00000272145	chromatin interactions
ENSG00000106993	chromatin interactions
ENSG00000241127	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000175600	chromatin interactions
ENSG00000135709	chromatin interactions
ENSG00000100316	chromatin interactions
ENSG00000227540	chromatin interactions
ENSG00000006451	chromatin interactions
ENSG00000182180	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000168303	chromatin interactions
ENSG00000263764	chromatin interactions
ENSG00000198824	chromatin interactions
ENSG00000164924	chromatin interactions
ENSG00000164190	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000260806	chromatin interactions
ENSG00000149231	chromatin interactions
ENSG00000066136	chromatin interactions
ENSG00000107020	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552650878	chr7:39989649-39989650	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
2	rs572607630	chr7:39989653-39989654	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
3	rs544565287	chr7:39989672-39989673	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
4	rs377693591	chr7:39989705-39989706	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
5	rs555098658	chr7:39989728-39989729	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
6	rs17537649	chr7:39989893-39989894	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
7	rs544070332	chr7:39989898-39989899	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
8	rs563858911	chr7:39989910-39989911	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs17537655	chr7:39989925-39989926	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs192558432	chr7:39989933-39989934	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs17496109	chr7:39990021-39990022	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs17496116	chr7:39990134-39990135	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528605064	chr7:39990144-39990145	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs551765285	chr7:39990234-39990235	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs571636079	chr7:39990310-39990311	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs371265072	chr7:39990334-39990335	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs537086765	chr7:39990349-39990350	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs557213181	chr7:39990373-39990374	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs567495816	chr7:39990421-39990422	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs535997764	chr7:39990487-39990488	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs17496123	chr7:39990552-39990553	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs572572201	chr7:39990665-39990666	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs17496130	chr7:39990681-39990682	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs558256893	chr7:39990699-39990700	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs575159200	chr7:39990724-39990725	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs145227187	chr7:39990830-39990831	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs143271914	chr7:39990882-39990883	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs564002120	chr7:39990902-39990903	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs574254115	chr7:39990956-39990957	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs538112746	chr7:39990981-39990982	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs543202207	chr7:39990988-39990989	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs368104540	chr7:39991059-39991060	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs560003667	chr7:39991063-39991064	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs528567573	chr7:39991065-39991066	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs201677783	chr7:39991072-39991073	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs367808094	chr7:39991074-39991075	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs551890799	chr7:39991075-39991076	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs370384011	chr7:39991104-39991105	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs374654969	chr7:39991113-39991114	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs374612677	chr7:39991131-39991132	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs368100231	chr7:39991147-39991148	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs11548117	chr7:39991170-39991171	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs199909554	chr7:39991186-39991187	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs375548572	chr7:39991189-39991190	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs536158754	chr7:39991193-39991194	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs546363676	chr7:39991204-39991205	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs13622	chr7:39991259-39991260	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs199896416	chr7:39991277-39991278	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs538477637	chr7:39991290-39991291	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs17537669	chr7:39991306-39991307	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39987800-39992800	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr7:39987800-39993200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:39987800-39993400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:39988000-39989600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:39988000-39990600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:39988000-39991400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:39988000-39991400	Active TSS	Esophagus	oesophagus
8	chr7:39988000-39991800	Active TSS	Gastric	stomach
9	chr7:39988000-39991800	Active TSS	Left Ventricle	heart
10	chr7:39988000-39991800	Active TSS	Pancreas	Pancrea
11	chr7:39988000-39992000	Active TSS	Stomach Mucosa	stomach
12	chr7:39988000-39992200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:39988000-39992400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:39988000-39992800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:39988000-39993000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:39988000-39993200	Active TSS	HSMM	muscle
17	chr7:39988000-39993400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:39988000-39993400	Active TSS	Osteobl	bone
19	chr7:39988000-39993600	Active TSS	Colonic Mucosa	Colon
20	chr7:39988000-39993800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:39988000-39993800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr7:39988000-39994000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr7:39988200-39989600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:39988200-39991000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:39988200-39991800	Active TSS	Lung	lung
26	chr7:39988200-39992200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:39988200-39992800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:39988200-39993200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:39988200-39993200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr7:39988200-39993200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:39988200-39993200	Active TSS	Muscle Satellite Cultured Cells	--
32	chr7:39988200-39993200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:39988200-39993200	Active TSS	Colon Smooth Muscle	Colon
34	chr7:39988200-39993200	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr7:39988200-39993200	Active TSS	A549	lung
36	chr7:39988200-39993200	Active TSS	K562	blood
37	chr7:39988200-39993200	Active TSS	NH-A	brain
38	chr7:39988200-39993200	Active TSS	NHDF-Ad	bronchial
39	chr7:39988200-39993400	Active TSS	Aorta	Aorta
40	chr7:39988200-39993400	Active TSS	Psoas Muscle	Psoas
41	chr7:39988200-39993400	Active TSS	Right Ventricle	heart
42	chr7:39988200-39993600	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:39988200-39993800	Active TSS	H1 Cell Line	embryonic stem cell
44	chr7:39988200-39996200	Active TSS	GM12878-XiMat	blood
45	chr7:39988400-39989600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:39988400-39989800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr7:39988400-39989800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:39988400-39989800	Active TSS	Brain Germinal Matrix	brain
49	chr7:39988400-39989800	Active TSS	Stomach Smooth Muscle	stomach
50	chr7:39988400-39990200	Active TSS	Fetal Brain Male	brain

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