Variant report

Variant	rs17156122
Chromosome Location	chr7:102937760-102937761
allele	A/G
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	MAZ	chr7:102937666-102938294	Hela-S3	cervix:	n/a	n/a
2	GABPA	chr7:102937350-102938743	MCF-7	breast:	n/a	n/a
3	CTCF	chr7:102937760-102937910	AG04449	skin:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
4	CTCF	chr7:102937740-102937890	GM12864	blood:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
5	CHD1	chr7:102937522-102938711	GM12878	blood:	n/a	n/a
6	CEBPB	chr7:102937417-102938346	MCF-7	breast:	n/a	n/a
7	HMGN3	chr7:102937759-102938338	K562	blood:	n/a	n/a
8	JUND	chr7:102937458-102938203	HepG2	liver:	n/a	n/a
9	YY1	chr7:102937576-102938279	A549	lung:	n/a	n/a
10	CTCF	chr7:102937740-102937890	HRPEpiC	eye:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
11	FOXA1	chr7:102937701-102937953	T-47D	breast:	n/a	n/a
12	POLR2A	chr7:102937620-102938317	PBDE	blood:	n/a	n/a
13	CTCF	chr7:102937700-102937850	BE2_C	brain:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
14	GABPA	chr7:102937624-102938099	K562	blood:	n/a	n/a
15	RAD21	chr7:102937597-102938079	A549	lung:	n/a	chr7:102937815-102937834 chr7:102937816-102937830
16	MAX	chr7:102937551-102938257	GM12878	blood:	n/a	chr7:102937633-102937642
17	CTCF	chr7:102937549-102938161	K562	blood:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
18	POLR2A	chr7:102937728-102938379	HL-60	blood:	n/a	n/a
19	CTCF	chr7:102937596-102937995	H1-hESC	embryonic stem cell:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
20	CTCF	chr7:102937760-102937910	HRE	kidney:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
21	JUND	chr7:102937615-102938315	K562	blood:	n/a	n/a
22	MAX	chr7:102937667-102937945	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAFF	chr7:102937646-102937931	K562	blood:	n/a	n/a
24	POLR2A	chr7:102937649-102938142	SK-N-SH	brain:	n/a	n/a
25	NR2F2	chr7:102937477-102938478	MCF-7	breast:	n/a	n/a
26	STAT3	chr7:102937742-102937933	MCF10A-Er-Src	breast:	n/a	n/a
27	JUND	chr7:102937622-102938259	A549	lung:	n/a	n/a
28	CTCF	chr7:102937740-102937890	HBMEC	blood vessel:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
29	TAF1	chr7:102937628-102938356	K562	blood:	n/a	n/a
30	SIN3AK20	chr7:102937582-102938262	PANC-1	pancreas:	n/a	n/a
31	ZNF143	chr7:102937602-102937999	K562	blood:	n/a	n/a
32	REST	chr7:102937754-102938183	K562	blood:	n/a	n/a
33	ELF1	chr7:102937623-102938138	SK-N-SH	brain:	n/a	chr7:102937862-102937873
34	CTCF	chr7:102937686-102937988	MCF-7	breast:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
35	RAD21	chr7:102937594-102937998	Hela-S3	cervix:	n/a	chr7:102937815-102937834 chr7:102937816-102937830
36	GABPA	chr7:102937473-102938306	A549	lung:	n/a	n/a
37	FOXM1	chr7:102937556-102938115	GM12878	blood:	n/a	n/a
38	YY1	chr7:102937624-102938443	K562	blood:	n/a	n/a
39	CTCF	chr7:102937559-102938064	A549	lung:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
40	CTCF	chr7:102937720-102937870	HUVEC	blood vessel:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
41	CTCF	chr7:102937760-102937910	Hela-S3	cervix:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
42	RCOR1	chr7:102937416-102938317	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr7:102937576-102938037	K562	blood:	n/a	n/a
44	MXI1	chr7:102937610-102938493	IMR90	lung:	n/a	n/a
45	POLR2A	chr7:102937609-102938304	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr7:102937605-102937946	SK-N-SH_RA	brain:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
47	REST	chr7:102937659-102938076	PFSK-1	brain:	n/a	n/a
48	CTCF	chr7:102937740-102937890	HPF	lung:	n/a	chr7:102937815-102937831 chr7:102937817-102937830 chr7:102937816-102937837 chr7:102937814-102937832
49	GABPA	chr7:102937468-102938479	SK-N-SH	brain:	n/a	n/a
50	RAD21	chr7:102937634-102938036	IMR90	lung:	n/a	chr7:102937815-102937834 chr7:102937816-102937830

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:102937749-102937799	HPAEpiC	pulmonary alveolar:	n/a
2	chr7:102937749-102937799	HMEC	breast:	n/a
3	chr7:102937749-102937799	HEK293	kidney:	embryo
4	chr7:102937749-102937799	MCF10A-Er-Src	breast:	n/a
5	chr7:102937749-102937799	AG10803	skin:	n/a
6	chr7:102937749-102937799	HRPEpiC	eye:	n/a
7	chr7:102937749-102937799	Hepatocyte	liver:	n/a
8	chr7:102937749-102937799	SK-N-SH	brain:	n/a
9	chr7:102937749-102937799	NT2-D1	testis:	n/a
10	chr7:102937749-102937799	GM12878	blood:	n/a
11	chr7:102937749-102937799	SK-N-MC	brain:	n/a
12	chr7:102937749-102937799	NHBE	bronchial:	n/a
13	chr7:102937749-102937799	BE2_C	brain:	n/a
14	chr7:102937749-102937799	PANC-1	pancreas:	n/a
15	chr7:102937749-102937799	GM19239	blood:	n/a
16	chr7:102937749-102937799	K562	blood:	n/a
17	chr7:102937749-102937799	RPTEC	kidney:	n/a
18	chr7:102937749-102937799	GM12891	blood:	n/a
19	chr7:102937749-102937799	AG09319	gingival:	n/a
20	chr7:102937749-102937799	AG04449	skin:	fetal
21	chr7:102937749-102937799	IMR90	lung:	fetal
22	chr7:102937749-102937799	NB4	blood:	n/a
23	chr7:102937749-102937799	H1-hESC	embryonic stem cell:	embryo
24	chr7:102937749-102937799	HL-60	blood:	n/a
25	chr7:102937749-102937799	Caco-2	colon:	n/a
26	chr7:102937749-102937799	LNCaP	prostate:	n/a
27	chr7:102937749-102937799	HRE	kidney:	n/a
28	chr7:102937749-102937799	T-47D	breast:	n/a
29	chr7:102937749-102937799	PFSK-1	brain:	n/a
30	chr7:102937749-102937799	HCF	heart:	n/a
31	chr7:102937749-102937799	ovcar-3	ovarian:	n/a
32	chr7:102937749-102937799	NH-A	brain:	n/a
33	chr7:102937749-102937799	ProgFib	skin:	n/a
34	chr7:102937749-102937799	BJ	skin:	n/a
35	chr7:102937749-102937799	SAEC	small airway:	n/a
36	chr7:102937749-102937799	HAEpiC	amniotic membrane:	n/a
37	chr7:102937749-102937799	A549	lung:	n/a
38	chr7:102937749-102937799	AG09309	skin:	n/a
39	chr7:102937749-102937799	GM06990	blood:	n/a
40	chr7:102937749-102937799	Hela-S3	cervix:	n/a
41	chr7:102937749-102937799	GM12892	blood:	n/a
42	chr7:102937749-102937799	MCF-7	breast:	n/a
43	chr7:102937749-102937799	ECC-1	luminal epithelium:	n/a
44	chr7:102937749-102937799	HCM	heart:	n/a
45	chr7:102937749-102937799	HNPCEpiC	eye:	n/a
46	chr7:102937749-102937799	HEEpiC	esophagus:	n/a
47	chr7:102937749-102937799	HRCEpiC	kidney:	n/a
48	chr7:102937749-102937799	HUVEC	blood vessel:	n/a
49	chr7:102937749-102937799	HCPEpiC	choroid plexus:	n/a
50	chr7:102937749-102937799	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:102937260..102939405-chr7:102983367..102989226,6	MCF-7	breast:
2	chr7:102734288..102735154-chr7:102937317..102937869,2	K562	blood:
3	chr7:102936427..102940589-chr7:102983649..102988902,7	K562	blood:
4	chr7:102936363..102940498-chr7:102983696..102986201,5	K562	blood:
5	chr7:102788341..102791545-chr7:102935934..102939308,4	K562	blood:
6	chr7:102936543..102939393-chr7:103085608..103089565,4	MCF-7	breast:
7	chr7:102937219..102940435-chr7:102985734..102988691,4	MCF-7	breast:
8	chr7:102788463..102790768-chr7:102937238..102939346,3	K562	blood:
9	chr7:102935903..102938136-chr7:102983489..102985608,2	MCF-7	breast:
10	chr7:102789004..102789710-chr7:102937583..102938403,2	MCF-7	breast:

Variant related genes	Relation type
PMPCB	TF binding region
PMPCB	CpG island
ENSG00000105821	Chromatin interaction
ENSG00000170615	Chromatin interaction
ENSG00000161057	Chromatin interaction
ENSG00000161048	Chromatin interaction
ENSG00000235354	Chromatin interaction
ENSG00000234715	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11532769	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11560368	0.81[EUR][1000 genomes]
rs11560369	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs12669855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959881	0.81[EUR][1000 genomes]
rs6964078	0.84[EUR][1000 genomes]
rs7782185	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9718373	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv831084	chr7:102778908-102964970	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102937200-102937800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:102937200-102938200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:102937200-102938800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:102937200-102938800	Active TSS	Brain Angular Gyrus	brain
5	chr7:102937200-102939400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:102937400-102937800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:102937400-102937800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:102937400-102937800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr7:102937400-102937800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:102937400-102937800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr7:102937400-102937800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr7:102937400-102937800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr7:102937400-102937800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:102937400-102937800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr7:102937400-102937800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr7:102937400-102937800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:102937400-102937800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:102937400-102937800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:102937400-102937800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:102937400-102937800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr7:102937400-102937800	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr7:102937400-102937800	Active TSS	Brain Germinal Matrix	brain
23	chr7:102937400-102937800	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr7:102937400-102937800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:102937400-102937800	Flanking Active TSS	Fetal Kidney	kidney
26	chr7:102937400-102937800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr7:102937400-102937800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr7:102937400-102937800	Flanking Active TSS	Dnd41	blood
29	chr7:102937400-102937800	Flanking Active TSS	GM12878-XiMat	blood
30	chr7:102937400-102937800	Flanking Active TSS	Hela-S3	cervix
31	chr7:102937400-102937800	Flanking Active TSS	HUVEC	blood vessel
32	chr7:102937400-102937800	Flanking Active TSS	K562	blood
33	chr7:102937400-102937800	Flanking Active TSS	NHEK	skin
34	chr7:102937400-102937800	Flanking Active TSS	NHLF	lung
35	chr7:102937400-102937800	Flanking Active TSS	Osteobl	bone
36	chr7:102937400-102938000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:102937400-102938400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr7:102937400-102938600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr7:102937400-102938600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:102937400-102938600	Active TSS	Brain Anterior Caudate	brain
41	chr7:102937400-102938600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:102937400-102938600	Active TSS	Colon Smooth Muscle	Colon
43	chr7:102937400-102938600	Active TSS	Fetal Brain Female	brain
44	chr7:102937400-102938800	Active TSS	Colonic Mucosa	Colon
45	chr7:102937400-102938800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr7:102937400-102938800	Active TSS	HMEC	breast
47	chr7:102937400-102939000	Active TSS	H1 Cell Line	embryonic stem cell
48	chr7:102937400-102939000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:102937400-102939000	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr7:102937400-102939200	Active TSS	H9 Cell Line	embryonic stem cell

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