Variant report

Variant	nsv520866
Chromosome Location	chr7:12643396-12646473
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	POLR2A	chr7:12646209-12646327	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr7:12645758-12645959	MCF10A-Er-Src	breast:	n/a	chr7:12645914-12645928 chr7:12645917-12645926 chr7:12645916-12645925

Variant related genes	Relation type
SCIN	TF binding region

Extended variants
information (count: 148 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs849776	chr7:12643396-12643397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540608981	chr7:12643432-12643433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560504261	chr7:12643472-12643473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11308387	chr7:12643535-12643536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77930712	chr7:12643540-12643541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183272733	chr7:12643545-12643546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144401081	chr7:12643558-12643559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370975064	chr7:12643603-12643604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78070233	chr7:12643632-12643633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145302461	chr7:12643664-12643665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568760737	chr7:12643670-12643671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548421392	chr7:12643679-12643680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568395503	chr7:12643705-12643706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs849777	chr7:12643724-12643725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557617626	chr7:12643743-12643744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367721185	chr7:12643790-12643791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527407828	chr7:12643791-12643792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539112736	chr7:12643796-12643797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115152804	chr7:12643813-12643814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182593832	chr7:12643814-12643815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186869015	chr7:12643839-12643840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555628646	chr7:12643875-12643876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149171212	chr7:12643933-12643934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546945586	chr7:12643946-12643947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541352601	chr7:12643972-12643973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143279398	chr7:12643973-12643974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577178761	chr7:12644014-12644015	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs7798406	chr7:12644033-12644034	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs10224407	chr7:12644065-12644066	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531740617	chr7:12644090-12644091	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs569756380	chr7:12644098-12644099	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs201798912	chr7:12644165-12644166	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs374712534	chr7:12644173-12644174	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs527952558	chr7:12644214-12644215	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113146520	chr7:12644247-12644248	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs78038322	chr7:12644253-12644254	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs570310219	chr7:12644271-12644272	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs372230377	chr7:12644289-12644290	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77131383	chr7:12644310-12644311	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs849778	chr7:12644334-12644335	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs201705611	chr7:12644347-12644348	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200411842	chr7:12644348-12644349	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs143007956	chr7:12644349-12644350	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs145138821	chr7:12644354-12644355	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs398072973	chr7:12644364-12644365	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs141537412	chr7:12644375-12644376	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs368057331	chr7:12644414-12644415	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372492458	chr7:12644421-12644422	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572129007	chr7:12644422-12644423	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555565395	chr7:12644446-12644447	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12625000-12645800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:12625000-12652000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:12625400-12667600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:12637000-12644000	Weak transcription	K562	blood
5	chr7:12639800-12649600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:12641400-12644000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:12642400-12649200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:12642800-12649400	Weak transcription	Adipose Nuclei	Adipose
9	chr7:12644000-12644400	ZNF genes & repeats	K562	blood
10	chr7:12644000-12647000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:12644400-12649400	Weak transcription	K562	blood

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