Variant report

Variant	nsv524800
Chromosome Location	chr7:71666864-71714102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:71663421..71665320-chr7:71669615..71672136,2	K562	blood:
2	chr7:71698392..71700394-chr7:71705051..71707157,2	K562	blood:
3	chr1:64494077..64494875-chr7:71705794..71706323,2	MCF-7	breast:
4	chr7:71698392..71700394-chr7:71705051..71707157,2	K562	blood:

Variant related genes	Relation type
ENSG00000207190	chromatin interactions

Extended variants
information (count: 2324 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2324 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11765179	chr7:71666864-71666865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17144387	chr7:71666865-71666866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532714248	chr7:71666940-71666941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536142769	chr7:71666981-71666982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565940385	chr7:71667001-71667002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190161006	chr7:71667006-71667007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555064731	chr7:71667028-71667029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570087577	chr7:71667066-71667067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550259700	chr7:71667072-71667073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116441534	chr7:71667094-71667095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183401303	chr7:71667113-71667114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577966465	chr7:71667142-71667143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545331631	chr7:71667144-71667145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553975062	chr7:71667161-71667162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371399076	chr7:71667173-71667174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562622637	chr7:71667195-71667196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115828192	chr7:71667200-71667201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561020958	chr7:71667219-71667220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531345424	chr7:71667278-71667279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2677282	chr7:71667291-71667292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561319847	chr7:71667356-71667357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373404659	chr7:71667358-71667359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564541176	chr7:71667391-71667392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368185888	chr7:71667426-71667427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532623575	chr7:71667443-71667444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547697859	chr7:71667496-71667497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559490432	chr7:71667502-71667503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12671130	chr7:71667512-71667513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568545471	chr7:71667594-71667595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74417446	chr7:71667631-71667632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145269345	chr7:71667642-71667643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114781139	chr7:71667655-71667656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537155822	chr7:71667686-71667687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187523282	chr7:71667717-71667718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2521204	chr7:71667724-71667725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538907731	chr7:71667768-71667769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149183691	chr7:71667892-71667893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557857030	chr7:71667897-71667898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376833086	chr7:71667899-71667900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536436901	chr7:71667932-71667933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192805207	chr7:71667965-71667966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576041458	chr7:71667967-71667968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183816835	chr7:71667989-71667990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564503523	chr7:71667999-71668000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143349293	chr7:71668008-71668009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147945448	chr7:71668009-71668010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558047141	chr7:71668077-71668078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559611013	chr7:71668084-71668085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530375099	chr7:71668113-71668114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35237198	chr7:71668138-71668139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
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
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71641200-71686800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:71665600-71667000	Weak transcription	Fetal Brain Male	brain
3	chr7:71666400-71676200	Weak transcription	Fetal Thymus	thymus
4	chr7:71666800-71667000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:71667000-71667200	Enhancers	Fetal Brain Male	brain
6	chr7:71667000-71669600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:71669600-71669800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:71672200-71672400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:71672400-71673400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:71673200-71687200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:71673400-71674200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:71673800-71674000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr7:71673800-71674200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:71676200-71676400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:71676200-71676600	Enhancers	Brain Anterior Caudate	brain
16	chr7:71676200-71676600	Enhancers	K562	blood
17	chr7:71676200-71677600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:71676200-71677800	Strong transcription	Fetal Thymus	thymus
19	chr7:71676600-71676800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:71676600-71677000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:71676600-71678200	Weak transcription	Brain Anterior Caudate	brain
22	chr7:71676800-71678600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:71677000-71682000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:71677600-71681400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:71677800-71678600	Enhancers	Brain Hippocampus Middle	brain
26	chr7:71677800-71678800	Genic enhancers	Fetal Thymus	thymus
27	chr7:71678000-71678200	Enhancers	Thymus	Thymus
28	chr7:71678000-71678400	Enhancers	Brain Cingulate Gyrus	brain
29	chr7:71678000-71678800	Enhancers	Brain Substantia Nigra	brain
30	chr7:71678000-71679000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:71678000-71679000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:71678200-71678600	Enhancers	Brain Anterior Caudate	brain
33	chr7:71678200-71678600	Weak transcription	Thymus	Thymus
34	chr7:71678400-71678800	Enhancers	Brain Angular Gyrus	brain
35	chr7:71678600-71679000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:71678600-71679000	ZNF genes & repeats	Thymus	Thymus
37	chr7:71678800-71680600	Weak transcription	Fetal Thymus	thymus
38	chr7:71679000-71686400	Weak transcription	Thymus	Thymus
39	chr7:71679000-71690200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:71679600-71682400	Weak transcription	Right Atrium	heart
41	chr7:71680600-71680800	Genic enhancers	Fetal Thymus	thymus
42	chr7:71680800-71682200	Strong transcription	Fetal Thymus	thymus
43	chr7:71681400-71682800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:71682000-71682800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:71682200-71682600	Genic enhancers	Fetal Thymus	thymus
46	chr7:71682600-71683800	Weak transcription	Fetal Thymus	thymus
47	chr7:71683800-71684800	Genic enhancers	Fetal Thymus	thymus
48	chr7:71684600-71684800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:71684800-71686200	Weak transcription	Fetal Thymus	thymus
50	chr7:71685600-71692800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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