Variant report

Variant	esv3346546
Chromosome Location	chr7:63641467-63643415
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	CTCF	chr7:63641416-63641636	HUVEC	blood vessel:	n/a	chr7:63641525-63641541
2	CTCF	chr7:63641440-63641590	AoAF	blood vessel:	n/a	chr7:63641525-63641541
3	CTCF	chr7:63641440-63641590	HPAF	blood vessel:	n/a	chr7:63641525-63641541
4	CTCF	chr7:63641480-63641630	HMF	breast:	n/a	chr7:63641525-63641541
5	CTCF	chr7:63641460-63641610	HCFaa	heart:	n/a	chr7:63641525-63641541
6	CTCF	chr7:63641480-63641630	SAEC	small airway:	n/a	chr7:63641525-63641541
7	CTCF	chr7:63643100-63643149	GM12891	blood:	n/a	n/a
8	CTCF	chr7:63641460-63641610	A549	lung:	n/a	chr7:63641525-63641541
9	CTCF	chr7:63641462-63641532	GM20000	blood:	n/a	n/a
10	CTCF	chr7:63641400-63641550	HRE	kidney:	n/a	chr7:63641525-63641541
11	CTCF	chr7:63641450-63641560	SK-N-SH_RA	brain:	n/a	chr7:63641525-63641541
12	CTCF	chr7:63641480-63641630	GM12874	blood:	n/a	chr7:63641525-63641541
13	CTCF	chr7:63641476-63641625	GM12878	blood:	n/a	chr7:63641525-63641541
14	CTCF	chr7:63641440-63641590	HMEC	breast:	n/a	chr7:63641525-63641541
15	CTCF	chr7:63641400-63641550	AG09319	gingival:	n/a	chr7:63641525-63641541
16	CTCF	chr7:63641410-63641671	IMR90	lung:	n/a	chr7:63641525-63641541
17	CTCF	chr7:63641460-63641610	GM12875	blood:	n/a	chr7:63641525-63641541
18	CTCF	chr7:63641420-63641570	HVMF	connective:	n/a	chr7:63641525-63641541
19	CTCF	chr7:63641417-63641582	Medullo	brain:	n/a	chr7:63641525-63641541
20	CTCF	chr7:63641480-63641630	GM12865	blood:	n/a	chr7:63641525-63641541
21	CTCF	chr7:63643261-63644186	SK-N-SH	brain:	n/a	chr7:63643290-63643303 chr7:63643670-63643683 chr7:63643670-63643683 chr7:63643668-63643684 chr7:63643667-63643685
22	CTCF	chr7:63641480-63641630	HCT-116	colon:	n/a	chr7:63641525-63641541
23	CTCF	chr7:63641460-63641610	BE2_C	brain:	n/a	chr7:63641525-63641541
24	CTCF	chr7:63641460-63641610	HEK293	kidney:	n/a	chr7:63641525-63641541
25	CTCF	chr7:63641407-63641705	SK-N-SH_RA	brain:	n/a	chr7:63641525-63641541
26	CTCF	chr7:63641460-63641610	WERI-Rb-1	eye:	n/a	chr7:63641525-63641541
27	CTCF	chr7:63641420-63641570	RPTEC	kidney:	n/a	chr7:63641525-63641541
28	CTCF	chr7:63641380-63641530	HVMF	connective:	n/a	n/a
29	CTCF	chr7:63641460-63641610	GM12864	blood:	n/a	chr7:63641525-63641541
30	CTCF	chr7:63641520-63641670	GM12869	blood:	n/a	chr7:63641525-63641541
31	CTCF	chr7:63641460-63641610	HBMEC	blood vessel:	n/a	chr7:63641525-63641541
32	CTCF	chr7:63641449-63641607	Hela-S3	cervix:	n/a	chr7:63641525-63641541
33	CTCF	chr7:63641341-63641712	GM12878	blood:	n/a	chr7:63641525-63641541
34	CTCF	chr7:63641460-63641610	HA-sp	spinal cord:	n/a	chr7:63641525-63641541
35	CTCF	chr7:63641480-63641630	SK-N-SH_RA	brain:	n/a	chr7:63641525-63641541
36	CTCF	chr7:63641469-63641602	MCF-7	breast:	n/a	chr7:63641525-63641541
37	CTCF	chr7:63641440-63641590	RPTEC	kidney:	n/a	chr7:63641525-63641541
38	CTCF	chr7:63641480-63641630	WERI-Rb-1	eye:	n/a	chr7:63641525-63641541
39	CTCF	chr7:63641480-63641630	HUVEC	blood vessel:	n/a	chr7:63641525-63641541
40	CTCF	chr7:63641460-63641610	HRPEpiC	eye:	n/a	chr7:63641525-63641541
41	CTCF	chr7:63641500-63641650	GM12871	blood:	n/a	chr7:63641525-63641541
42	CTCF	chr7:63641400-63641550	GM12873	blood:	n/a	chr7:63641525-63641541
43	CTCF	chr7:63641380-63641530	HL-60	blood:	n/a	n/a
44	CTCF	chr7:63641420-63641570	HPAF	blood vessel:	n/a	chr7:63641525-63641541
45	CTCF	chr7:63641460-63641610	K562	blood:	n/a	chr7:63641525-63641541
46	CTCF	chr7:63641540-63641690	NHEK	skin:	n/a	n/a
47	CTCF	chr7:63641460-63641610	HPF	lung:	n/a	chr7:63641525-63641541
48	CTCF	chr7:63641480-63641630	HepG2	liver:	n/a	chr7:63641525-63641541
49	CTCF	chr7:63641467-63641595	GM13977	blood:	n/a	chr7:63641525-63641541
50	CTCF	chr7:63641600-63641750	GM12873	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:63643277-63643327	HIPEpiC	eye:	n/a
2	chr7:63643277-63643327	NT2-D1	testis:	n/a
3	chr7:63641507-63641557	NHBE	bronchial:	n/a
4	chr7:63641507-63641557	AG04450	lung:	fetal
5	chr7:63642083-63642133	NH-A	brain:	n/a
6	chr7:63642083-63642133	NB4	blood:	n/a
7	chr7:63641507-63641557	AG10803	skin:	n/a
8	chr7:63642709-63642759	SK-N-SH	brain:	n/a
9	chr7:63642709-63642759	Hepatocyte	liver:	n/a
10	chr7:63641507-63641557	HCF	heart:	n/a
11	chr7:63643277-63643327	GM12891	blood:	n/a
12	chr7:63641507-63641557	SK-N-SH_RA	brain:	n/a
13	chr7:63641507-63641557	SAEC	small airway:	n/a
14	chr7:63642083-63642133	SAEC	small airway:	n/a
15	chr7:63641507-63641557	PrEC	prostate:	n/a
16	chr7:63642083-63642133	CMK	blood:	n/a
17	chr7:63642083-63642133	LNCaP	prostate:	n/a
18	chr7:63641507-63641557	SK-N-SH	brain:	n/a
19	chr7:63642709-63642759	AG10803	skin:	n/a
20	chr7:63641507-63641557	NH-A	brain:	n/a
21	chr7:63642709-63642759	MCF-7	breast:	n/a
22	chr7:63643277-63643327	Hepatocyte	liver:	n/a
23	chr7:63643277-63643327	AG04449	skin:	fetal
24	chr7:63643277-63643327	NB4	blood:	n/a
25	chr7:63642709-63642759	Hela-S3	cervix:	n/a
26	chr7:63643277-63643327	MCF-7	breast:	n/a
27	chr7:63642709-63642759	PANC-1	pancreas:	n/a
28	chr7:63643277-63643327	AG04450	lung:	fetal
29	chr7:63642083-63642133	AG04450	lung:	fetal
30	chr7:63643277-63643327	GM12892	blood:	n/a
31	chr7:63642709-63642759	ProgFib	skin:	n/a
32	chr7:63643277-63643327	PrEC	prostate:	n/a
33	chr7:63643277-63643327	HCPEpiC	choroid plexus:	n/a
34	chr7:63642083-63642133	ECC-1	luminal epithelium:	n/a
35	chr7:63641507-63641557	PFSK-1	brain:	n/a
36	chr7:63642083-63642133	Hepatocyte	liver:	n/a
37	chr7:63642083-63642133	GM06990	blood:	n/a
38	chr7:63642709-63642759	K562	blood:	n/a
39	chr7:63642709-63642759	AoSMC	blood vessel:	n/a
40	chr7:63643277-63643327	HCF	heart:	n/a
41	chr7:63643277-63643327	HL-60	blood:	n/a
42	chr7:63642709-63642759	SAEC	small airway:	n/a
43	chr7:63641507-63641557	AG09309	skin:	n/a
44	chr7:63641507-63641557	GM12891	blood:	n/a
45	chr7:63642083-63642133	PFSK-1	brain:	n/a
46	chr7:63642083-63642133	MCF-7	breast:	n/a
47	chr7:63643277-63643327	ECC-1	luminal epithelium:	n/a
48	chr7:63643277-63643327	NHDF-neo	bronchial:	n/a
49	chr7:63642709-63642759	HIPEpiC	eye:	n/a
50	chr7:63642083-63642133	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:69724215..69725136-chr7:63643168..63643688,2	MCF-7	breast:

Variant related genes	Relation type
VN1R38P	TF binding region
ENSG00000213644	TF binding region
VN1R38P	CpG island
ENSG00000213644	CpG island

Extended variants
information (count: 72 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534441284	chr7:63641472-63641473	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs546626663	chr7:63641537-63641538	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
3	rs367752747	chr7:63641633-63641634	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs566580737	chr7:63641634-63641635	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs115734835	chr7:63641660-63641661	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs79333985	chr7:63641710-63641711	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs200728082	chr7:63641888-63641889	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs539597040	chr7:63641899-63641900	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs34105638	chr7:63641913-63641914	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs117146558	chr7:63641946-63641947	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs538176639	chr7:63642073-63642074	ZNF genes & repeats Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs568090165	chr7:63642084-63642085	ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
13	rs6460123	chr7:63642266-63642267	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs6460124	chr7:63642371-63642372	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540058542	chr7:63642379-63642380	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs111240834	chr7:63642386-63642387	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs545792738	chr7:63642392-63642393	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs370009505	chr7:63642398-63642399	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs34333960	chr7:63642413-63642414	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35866732	chr7:63642414-63642415	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs35856616	chr7:63642415-63642416	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs6460125	chr7:63642416-63642417	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs531610048	chr7:63642422-63642423	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs150773619	chr7:63642431-63642432	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs562245433	chr7:63642448-63642449	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572428108	chr7:63642450-63642451	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs527844089	chr7:63642537-63642538	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs553230778	chr7:63642558-63642559	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs547714633	chr7:63642561-63642562	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566568575	chr7:63642644-63642645	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs578131560	chr7:63642652-63642653	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs573357849	chr7:63642678-63642679	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs61731437	chr7:63642694-63642695	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs61731439	chr7:63642713-63642714	ZNF genes & repeats Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs138081130	chr7:63642721-63642722	ZNF genes & repeats Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs554803684	chr7:63642724-63642725	ZNF genes & repeats Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs568275304	chr7:63642727-63642728	ZNF genes & repeats Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs533983235	chr7:63642731-63642732	ZNF genes & repeats Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs553599506	chr7:63642738-63642739	ZNF genes & repeats Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs530885135	chr7:63642759-63642760	ZNF genes & repeats Flanking Active TSS	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs545854963	chr7:63642762-63642763	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs61731436	chr7:63642763-63642764	ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532382230	chr7:63642772-63642773	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs575980158	chr7:63642800-63642801	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs541866703	chr7:63642813-63642814	ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs562395331	chr7:63642838-63642839	ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147134425	chr7:63642851-63642852	ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs541590950	chr7:63642854-63642855	ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs564402403	chr7:63642897-63642898	ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs372851581	chr7:63642936-63642937	ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63642000-63642400	Bivalent/Poised TSS	Ovary	ovary
2	chr7:63642000-63643800	ZNF genes & repeats	Lung	lung
3	chr7:63642000-63643800	ZNF genes & repeats	Spleen	Spleen
4	chr7:63642200-63642400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:63642200-63643600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:63642200-63644800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:63642200-63644800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:63642400-63642600	Active TSS	Ovary	ovary
9	chr7:63642400-63643600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:63642400-63645600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:63642400-63645600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:63642600-63642800	Flanking Active TSS	Ovary	ovary
13	chr7:63642800-63643000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
14	chr7:63642800-63643200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
15	chr7:63642800-63643800	Enhancers	Ovary	ovary
16	chr7:63643000-63643800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
17	chr7:63643200-63644000	Enhancers	Brain Cingulate Gyrus	brain
18	chr7:63643400-63643600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr7:63643400-63643600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
20	chr7:63643400-63643600	Enhancers	Right Atrium	heart
21	chr7:63643400-63643600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr7:63643400-63643800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:63643400-63643800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr7:63643400-63644000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr7:63643400-63644000	Enhancers	Brain Anterior Caudate	brain

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