Variant report

Variant	nsv433029
Chromosome Location	chr7:11753260-11787060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:11751558..11753494-chr7:11758011..11760902,2	K562	blood:
2	chr7:11778825..11780643-chr7:11781305..11783920,2	K562	blood:
3	chr7:11778825..11780643-chr7:11781305..11783920,2	K562	blood:
4	chr7:11776469..11779139-chr7:11790572..11792630,2	MCF-7	breast:
5	chr7:11751558..11753494-chr7:11758011..11760902,2	K562	blood:

Variant related genes	Relation type
ENSG00000005108	chromatin interactions

Extended variants
information (count: 1588 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543278664	chr7:11753262-11753263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184109907	chr7:11753276-11753277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2355068	chr7:11753282-11753283	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545535519	chr7:11753292-11753293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562205121	chr7:11753300-11753301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542591065	chr7:11753315-11753316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7782737	chr7:11753344-11753345	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144055701	chr7:11753357-11753358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541596622	chr7:11753381-11753382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376116271	chr7:11753385-11753386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577271562	chr7:11753394-11753395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150667312	chr7:11753433-11753434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565439239	chr7:11753537-11753538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562034118	chr7:11753580-11753581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532399879	chr7:11753602-11753603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531249853	chr7:11753620-11753621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551271159	chr7:11753621-11753622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373848817	chr7:11753628-11753629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62433391	chr7:11753658-11753659	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187414967	chr7:11753661-11753662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546967229	chr7:11753670-11753671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560962075	chr7:11753676-11753677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547649991	chr7:11753683-11753684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566853207	chr7:11753720-11753721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564372952	chr7:11753730-11753731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557545312	chr7:11753739-11753740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533322150	chr7:11753759-11753760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138889741	chr7:11753772-11753773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577387782	chr7:11753783-11753784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190646016	chr7:11753833-11753834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182522465	chr7:11753861-11753862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550299269	chr7:11753877-11753878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557006960	chr7:11753896-11753897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573868915	chr7:11753903-11753904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370494746	chr7:11753932-11753933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11975056	chr7:11753953-11753954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs372206952	chr7:11753985-11753986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11975069	chr7:11754018-11754019	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs1568973	chr7:11754037-11754038	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565503683	chr7:11754043-11754044	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs7800743	chr7:11754057-11754058	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115291167	chr7:11754095-11754096	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs112749709	chr7:11754097-11754098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs561468317	chr7:11754131-11754132	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187315374	chr7:11754268-11754269	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs150161318	chr7:11754270-11754271	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532789003	chr7:11754285-11754286	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs35292710	chr7:11754349-11754350	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546685665	chr7:11754360-11754361	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566820772	chr7:11754362-11754363	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11747200-11754400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:11747600-11755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:11747800-11755800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:11749200-11754000	Enhancers	A549	lung
5	chr7:11750400-11754200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:11751200-11753400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:11752600-11753400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:11752800-11753400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:11753000-11757400	Enhancers	HUVEC	blood vessel
10	chr7:11753200-11753400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:11753200-11753400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:11753200-11754400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:11753200-11754600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:11753400-11754200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:11753400-11754400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:11753400-11759600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:11754000-11754400	Flanking Active TSS	A549	lung
18	chr7:11754000-11754800	Enhancers	NH-A	brain
19	chr7:11754200-11754800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:11754200-11754800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:11754400-11754600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:11754400-11754600	Active TSS	A549	lung
23	chr7:11754400-11754600	Enhancers	HMEC	breast
24	chr7:11754400-11755000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:11754400-11755200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:11754600-11754800	Flanking Active TSS	A549	lung
27	chr7:11754600-11755800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:11754800-11755200	Active TSS	A549	lung
29	chr7:11754800-11755800	Weak transcription	HMEC	breast
30	chr7:11754800-11756000	Weak transcription	NH-A	brain
31	chr7:11755200-11755800	Enhancers	A549	lung
32	chr7:11755800-11756200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:11755800-11756200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:11755800-11756200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:11755800-11756200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:11755800-11756200	Flanking Active TSS	A549	lung
37	chr7:11755800-11756400	Enhancers	HMEC	breast
38	chr7:11755800-11757000	Enhancers	Pancreas	Pancrea
39	chr7:11756000-11756600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:11756000-11757200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr7:11756200-11756400	Enhancers	NH-A	brain
42	chr7:11756200-11757200	Enhancers	A549	lung
43	chr7:11757200-11764800	Weak transcription	A549	lung
44	chr7:11759600-11760200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:11761000-11765200	Weak transcription	Fetal Lung	lung
46	chr7:11761800-11762200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:11762200-11766000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:11764800-11765400	Enhancers	A549	lung
49	chr7:11765200-11765400	Enhancers	Fetal Lung	lung
50	chr7:11765200-11766000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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