Variant report

Variant	nsv1030033
Chromosome Location	chr7:112092709-112140430
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1347)
CpG islands
(count:1040)
Chromatin interactive
region (count:98)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1347 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:112093984-112094184	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:112135953-112136158	K562	blood:	n/a	n/a
3	ARID3A	chr7:112135898-112136237	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:112120938-112121021	K562	blood:	n/a	n/a
5	ARID3A	chr7:112092070-112093011	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:112093535-112093893	K562	blood:	n/a	n/a
7	ARID3A	chr7:112096196-112096453	HepG2	liver:	n/a	n/a
8	ATF1	chr7:112124697-112124908	K562	blood:	n/a	n/a
9	ATF1	chr7:112120454-112121113	K562	blood:	n/a	n/a
10	ATF1	chr7:112093548-112093862	K562	blood:	n/a	n/a
11	ATF3	chr7:112127619-112127818	K562	blood:	n/a	n/a
12	BACH1	chr7:112119816-112119851	H1-hESC	embryonic stem cell:	n/a	n/a
13	BHLHE40	chr7:112092024-112092781	K562	blood:	n/a	n/a
14	BHLHE40	chr7:112120977-112121016	K562	blood:	n/a	n/a
15	BHLHE40	chr7:112121936-112122177	K562	blood:	n/a	n/a
16	BHLHE40	chr7:112137566-112137887	GM12878	blood:	n/a	n/a
17	BHLHE40	chr7:112135948-112136152	K562	blood:	n/a	n/a
18	BHLHE40	chr7:112127663-112127810	K562	blood:	n/a	n/a
19	BHLHE40	chr7:112137652-112137852	K562	blood:	n/a	n/a
20	BRCA1	chr7:112135919-112136379	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr7:112135937-112136268	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr7:112121903-112122328	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr7:112126281-112126481	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr7:112102201-112102701	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr7:112124747-112125234	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr7:112128158-112128542	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr7:112121827-112122374	HCT-116	colon:	n/a	n/a
28	CBX3	chr7:112121806-112122380	HCT-116	colon:	n/a	n/a
29	CBX3	chr7:112121822-112122282	K562	blood:	n/a	n/a
30	CCNT2	chr7:112101756-112101778	K562	blood:	n/a	n/a
31	CEBPB	chr7:112102251-112102784	MCF-7	breast:	n/a	chr7:112102506-112102519 chr7:112102507-112102518 chr7:112102506-112102517 chr7:112102506-112102517
32	CEBPB	chr7:112124961-112125475	A549	lung:	n/a	chr7:112125426-112125435 chr7:112125424-112125435 chr7:112125426-112125435 chr7:112125424-112125437 chr7:112125426-112125435 chr7:112125426-112125435 chr7:112125424-112125435
33	CEBPB	chr7:112093608-112093954	K562	blood:	n/a	chr7:112093796-112093807 chr7:112093796-112093809 chr7:112093798-112093809
34	CEBPB	chr7:112131215-112131468	K562	blood:	n/a	n/a
35	CEBPB	chr7:112102385-112102574	HepG2	liver:	n/a	chr7:112102506-112102519 chr7:112102507-112102518 chr7:112102506-112102517 chr7:112102506-112102517
36	CEBPB	chr7:112093658-112093944	HepG2	liver:	n/a	chr7:112093796-112093807 chr7:112093796-112093809 chr7:112093798-112093809
37	CEBPB	chr7:112124771-112125556	IMR90	lung:	n/a	chr7:112125426-112125435 chr7:112125424-112125435 chr7:112125426-112125435 chr7:112125424-112125437 chr7:112125426-112125435 chr7:112125426-112125435 chr7:112125424-112125435
38	CEBPB	chr7:112135803-112136189	IMR90	lung:	n/a	chr7:112135970-112135981 chr7:112135972-112135983 chr7:112135970-112135983 chr7:112135970-112135983
39	CEBPB	chr7:112135812-112136154	K562	blood:	n/a	chr7:112135970-112135981 chr7:112135972-112135983 chr7:112135970-112135983 chr7:112135970-112135983
40	CEBPB	chr7:112135864-112136223	H1-hESC	embryonic stem cell:	n/a	chr7:112135970-112135981 chr7:112135972-112135983 chr7:112135970-112135983 chr7:112135970-112135983
41	CEBPB	chr7:112102194-112102819	HCT-116	colon:	n/a	chr7:112102506-112102519 chr7:112102507-112102518 chr7:112102506-112102517 chr7:112102506-112102517
42	CEBPB	chr7:112104436-112104657	HepG2	liver:	n/a	n/a
43	CEBPB	chr7:112135797-112136261	Hela-S3	cervix:	n/a	chr7:112135970-112135981 chr7:112135972-112135983 chr7:112135970-112135983 chr7:112135970-112135983
44	CEBPB	chr7:112102300-112102707	K562	blood:	n/a	chr7:112102506-112102519 chr7:112102507-112102518 chr7:112102506-112102517 chr7:112102506-112102517
45	CEBPB	chr7:112106793-112107072	HepG2	liver:	n/a	chr7:112106908-112106919 chr7:112106907-112106920
46	CEBPB	chr7:112135856-112136359	MCF-7	breast:	n/a	chr7:112135970-112135981 chr7:112135972-112135983 chr7:112135970-112135983 chr7:112135970-112135983
47	CEBPB	chr7:112120505-112121063	IMR90	lung:	n/a	n/a
48	CEBPB	chr7:112102949-112103164	A549	lung:	n/a	n/a
49	CEBPB	chr7:112102290-112102870	A549	lung:	n/a	chr7:112102506-112102519 chr7:112102507-112102518 chr7:112102506-112102517 chr7:112102506-112102517
50	CEBPB	chr7:112106855-112107055	A549	lung:	n/a	chr7:112106908-112106919 chr7:112106907-112106920

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:112119813-112119863	HepG2	liver:	n/a
2	chr7:112130309-112130359	HRCEpiC	kidney:	n/a
3	chr7:112120785-112120835	NT2-D1	testis:	n/a
4	chr7:112119813-112119863	HepG2	liver:	n/a
5	chr7:112130309-112130359	HRCEpiC	kidney:	n/a
6	chr7:112120785-112120835	NT2-D1	testis:	n/a
7	chr7:112119507-112119557	SK-N-SH	brain:	n/a
8	chr7:112120734-112120784	Hela-S3	cervix:	n/a
9	chr7:112124979-112125029	RPTEC	kidney:	n/a
10	chr7:112119507-112119557	AG09319	gingival:	n/a
11	chr7:112120828-112120878	AoSMC	blood vessel:	n/a
12	chr7:112122217-112122267	RPTEC	kidney:	n/a
13	chr7:112120799-112120849	IMR90	lung:	fetal
14	chr7:112119501-112119551	ECC-1	luminal epithelium:	n/a
15	chr7:112120730-112120780	PrEC	prostate:	n/a
16	chr7:112092682-112092732	Caco-2	colon:	n/a
17	chr7:112120730-112120780	HMEC	breast:	n/a
18	chr7:112121259-112121309	BE2_C	brain:	n/a
19	chr7:112120734-112120784	HRCEpiC	kidney:	n/a
20	chr7:112120785-112120835	NHBE	bronchial:	n/a
21	chr7:112121259-112121309	MCF-7	breast:	n/a
22	chr7:112122217-112122267	H1-hESC	embryonic stem cell:	embryo
23	chr7:112120828-112120878	Caco-2	colon:	n/a
24	chr7:112120734-112120784	T-47D	breast:	n/a
25	chr7:112121259-112121309	NH-A	brain:	n/a
26	chr7:112119501-112119551	MCF-7	breast:	n/a
27	chr7:112120877-112120927	HCPEpiC	choroid plexus:	n/a
28	chr7:112130309-112130359	HEK293	kidney:	embryo
29	chr7:112121259-112121309	SKMC	muscle:	n/a
30	chr7:112120785-112120835	H1-hESC	embryonic stem cell:	embryo
31	chr7:112120877-112120927	HEK293	kidney:	embryo
32	chr7:112120734-112120784	AoSMC	blood vessel:	n/a
33	chr7:112122217-112122267	PFSK-1	brain:	n/a
34	chr7:112121259-112121309	HEEpiC	esophagus:	n/a
35	chr7:112120785-112120835	ECC-1	luminal epithelium:	n/a
36	chr7:112120734-112120784	RPTEC	kidney:	n/a
37	chr7:112119813-112119863	GM12878	blood:	n/a
38	chr7:112119813-112119863	LNCaP	prostate:	n/a
39	chr7:112120785-112120835	SK-N-MC	brain:	n/a
40	chr7:112120785-112120835	T-47D	breast:	n/a
41	chr7:112092682-112092732	HCPEpiC	choroid plexus:	n/a
42	chr7:112119507-112119557	GM12892	blood:	n/a
43	chr7:112120828-112120878	K562	blood:	n/a
44	chr7:112119507-112119557	HCF	heart:	n/a
45	chr7:112120799-112120849	HRPEpiC	eye:	n/a
46	chr7:112122217-112122267	NB4	blood:	n/a
47	chr7:112120730-112120780	NT2-D1	testis:	n/a
48	chr7:112135961-112136011	SAEC	small airway:	n/a
49	chr7:112120828-112120878	GM12892	blood:	n/a
50	chr7:112124979-112125029	H1-hESC	embryonic stem cell:	embryo

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:112113015..112114902-chr7:112118169..112120483,2	MCF-7	breast:
2	chr7:112090400..112091924-chr7:112109159..112110873,2	K562	blood:
3	chr7:112117720..112119517-chr7:112121271..112122829,2	K562	blood:
4	chr7:112108291..112109853-chr7:112116761..112118478,2	MCF-7	breast:
5	chr7:112131612..112134582-chr7:112135231..112138012,2	K562	blood:
6	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
7	chr7:112089150..112090788-chr7:112134779..112137087,2	MCF-7	breast:
8	chr7:112089246..112091822-chr7:112137938..112140372,2	MCF-7	breast:
9	chr7:112128570..112130551-chr7:112131471..112133164,2	K562	blood:
10	chr7:112108291..112109853-chr7:112116761..112118478,2	MCF-7	breast:
11	chr7:112088993..112091963-chr7:112126130..112127853,2	K562	blood:
12	chr7:112088943..112098465-chr7:112111106..112127214,31	K562	blood:
13	chr7:112062614..112065098-chr7:112110254..112112226,2	MCF-7	breast:
14	chr7:112059129..112067568-chr7:112088387..112093703,18	K562	blood:
15	chr7:112136223..112138120-chr7:112152281..112154931,2	K562	blood:
16	chr7:112111349..112114011-chr7:112120654..112122714,2	MCF-7	breast:
17	chr7:112098595..112101402-chr7:112109772..112113023,4	K562	blood:
18	chr7:112121747..112122441-chr7:112135491..112136079,2	MCF-7	breast:
19	chr7:112107719..112109774-chr7:112119889..112122320,2	K562	blood:
20	chr7:112126727..112128231-chr7:112130994..112133220,2	K562	blood:
21	chr7:112088811..112094041-chr7:112100770..112110657,18	MCF-7	breast:
22	chr7:112108188..112112481-chr7:112118688..112121294,3	MCF-7	breast:
23	chr7:112047884..112050486-chr7:112089235..112093334,4	MCF-7	breast:
24	chr7:112131612..112134582-chr7:112135231..112138012,2	K562	blood:
25	chr7:112120534..112121048-chr7:112135418..112136166,2	MCF-7	breast:
26	chr7:112090285..112091878-chr7:112134715..112136966,2	K562	blood:
27	chr7:112105277..112107837-chr7:112109982..112112737,2	MCF-7	breast:
28	chr7:112114725..112118373-chr7:112118548..112121134,7	K562	blood:
29	chr7:112110317..112112313-chr7:112114863..112117342,2	MCF-7	breast:
30	chr7:112138620..112143939-chr7:112145486..112149250,7	K562	blood:
31	chr7:112058803..112077296-chr7:112087519..112096464,50	MCF-7	breast:
32	chr7:112025626..112027691-chr7:112134133..112136855,2	K562	blood:
33	chr7:112100687..112102233-chr7:112105743..112108488,2	MCF-7	breast:
34	chr7:112107706..112111230-chr7:112125046..112128552,3	MCF-7	breast:
35	chr7:112121406..112122230-chr7:112135636..112136388,2	MCF-7	breast:
36	chr7:112088410..112092033-chr7:112123451..112127009,4	MCF-7	breast:
37	chr7:112107706..112111230-chr7:112125046..112128552,3	MCF-7	breast:
38	chr7:112122239..112125298-chr7:112125883..112129241,4	MCF-7	breast:
39	chr7:112110317..112112313-chr7:112114863..112117342,2	MCF-7	breast:
40	chr7:112120566..112122134-chr7:112133962..112136266,2	MCF-7	breast:
41	chr7:111806034..111807822-chr7:112092535..112095230,2	K562	blood:
42	chr7:112109911..112112772-chr7:112114561..112118551,4	K562	blood:
43	chr7:112107719..112109774-chr7:112119889..112122320,2	K562	blood:
44	chr7:112135974..112137750-chr7:112147907..112149600,2	MCF-7	breast:
45	chr7:112089471..112094125-chr7:112120459..112123941,5	MCF-7	breast:
46	chr7:112121071..112126030-chr7:112126598..112131851,6	K562	blood:
47	chr7:112120089..112121280-chr7:112135851..112136600,6	MCF-7	breast:
48	chr7:112134584..112136693-chr7:112137323..112139687,3	K562	blood:
49	chr7:112122370..112125277-chr7:112129500..112134032,5	K562	blood:
50	chr7:112048216..112051136-chr7:112094029..112095591,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	IFRD1	hsa-miR-26b-5p	chr7:112097471-112097493
2	IFRD1	hsa-miR-26b-5p	chr7:112115575-112115590

Variant related genes	Relation type
IFRD1	TF binding region
LSMEM1	TF binding region
IFRD1	CpG island
LSMEM1	CpG island
ENSG00000146802	chromatin interactions
ENSG00000226851	chromatin interactions
ENSG00000006652	chromatin interactions
ENSG00000198839	chromatin interactions
ENSG00000165355	chromatin interactions
ENSG00000181016	chromatin interactions
ENSG00000133226	chromatin interactions

Extended variants
information (count: 1816 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1816 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553903283	chr7:112092711-112092712	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs181423260	chr7:112092726-112092727	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs186360538	chr7:112092730-112092731	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs113505196	chr7:112092754-112092755	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs543130824	chr7:112092766-112092767	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs112128061	chr7:112092774-112092775	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs557690803	chr7:112092817-112092818	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs575972506	chr7:112092819-112092820	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs6966318	chr7:112092857-112092858	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs561870254	chr7:112092892-112092893	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs368748193	chr7:112092899-112092900	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs573481856	chr7:112092913-112092914	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs554099375	chr7:112092915-112092916	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs10500007	chr7:112092944-112092945	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75276788	chr7:112092945-112092946	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs9656193	chr7:112093041-112093042	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs145102802	chr7:112093057-112093058	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs530824434	chr7:112093098-112093099	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs565243520	chr7:112093110-112093111	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs549636247	chr7:112093260-112093261	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs148359283	chr7:112093405-112093406	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs141457788	chr7:112093426-112093427	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs117466197	chr7:112093447-112093448	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs571874007	chr7:112093486-112093487	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs71561764	chr7:112093503-112093504	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs539492436	chr7:112093504-112093505	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs553411430	chr7:112093512-112093513	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs576534590	chr7:112093586-112093587	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs539622433	chr7:112093618-112093619	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs536678800	chr7:112093670-112093671	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs118185908	chr7:112093699-112093700	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs190711577	chr7:112093774-112093775	Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs531956869	chr7:112093882-112093883	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs375881905	chr7:112093894-112093895	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs573636341	chr7:112093920-112093921	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs555932344	chr7:112093924-112093925	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs370893488	chr7:112093934-112093935	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs55956214	chr7:112093971-112093972	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs540934200	chr7:112093978-112093979	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs559074146	chr7:112093983-112093984	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs577435592	chr7:112093986-112093987	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs576222102	chr7:112093996-112093997	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs11768354	chr7:112094085-112094086	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs530912027	chr7:112094129-112094130	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs549149410	chr7:112094153-112094154	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs561277057	chr7:112094222-112094223	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs562040104	chr7:112094315-112094316	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs117016181	chr7:112094318-112094319	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs115361987	chr7:112094337-112094338	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs571837115	chr7:112094393-112094394	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Acute myeloid leukemia	16864856	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1562 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112089600-112092800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:112089600-112092800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr7:112089600-112092800	Active TSS	Fetal Kidney	kidney
4	chr7:112089600-112093000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:112089600-112093000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:112089600-112093400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:112089600-112094000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr7:112089600-112094200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:112089600-112094200	Active TSS	Psoas Muscle	Psoas
10	chr7:112089800-112092800	Active TSS	Ovary	ovary
11	chr7:112089800-112092800	Active TSS	Pancreas	Pancrea
12	chr7:112089800-112093000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr7:112089800-112093000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:112089800-112093000	Active TSS	Aorta	Aorta
15	chr7:112089800-112093000	Active TSS	Colon Smooth Muscle	Colon
16	chr7:112089800-112093000	Active TSS	Left Ventricle	heart
17	chr7:112089800-112093200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:112089800-112093400	Active TSS	A549	lung
19	chr7:112089800-112093600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr7:112089800-112093600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:112089800-112094400	Active TSS	Right Ventricle	heart
22	chr7:112089800-112094800	Active TSS	GM12878-XiMat	blood
23	chr7:112090000-112092800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:112090000-112092800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:112090000-112092800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:112090000-112092800	Active TSS	NHLF	lung
27	chr7:112090000-112094600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:112090200-112092800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:112090200-112092800	Active TSS	HSMM	muscle
30	chr7:112090200-112092800	Active TSS	NHEK	skin
31	chr7:112090200-112093400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:112090200-112093400	Active TSS	HMEC	breast
33	chr7:112090200-112093400	Active TSS	HSMMtube	muscle
34	chr7:112090200-112094200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:112090400-112093000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:112091400-112093000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr7:112091400-112093000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:112091400-112093000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:112091400-112093000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr7:112091400-112094000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr7:112091400-112094600	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr7:112091600-112092800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr7:112091600-112092800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr7:112091600-112093200	Active TSS	HepG2	liver
45	chr7:112091600-112093600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr7:112091600-112094400	Active TSS	Right Atrium	heart
47	chr7:112091800-112092800	Enhancers	Primary T cells fromperipheralblood	blood
48	chr7:112091800-112093000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr7:112091800-112093000	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr7:112091800-112093200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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