Variant report

Variant	nsv524775
Chromosome Location	chr7:21501984-21504427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21502614..21504493-chr7:21507418..21509927,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2282892	chr7:21501984-21501985	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182172331	chr7:21501997-21501998	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527279114	chr7:21502000-21502001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73685138	chr7:21502045-21502046	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545298027	chr7:21502063-21502064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557692348	chr7:21502067-21502068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186336207	chr7:21502072-21502073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2282893	chr7:21502073-21502074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576528544	chr7:21502101-21502102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374346706	chr7:21502109-21502110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570431008	chr7:21502120-21502121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545446153	chr7:21502156-21502157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565264478	chr7:21502166-21502167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527824799	chr7:21502176-21502177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541515164	chr7:21502177-21502178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561327974	chr7:21502208-21502209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560472861	chr7:21502209-21502210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2282894	chr7:21502260-21502261	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569984778	chr7:21502282-21502283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532641938	chr7:21502338-21502339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550994271	chr7:21502364-21502365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143941557	chr7:21502405-21502406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549965661	chr7:21502412-21502413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386711096	chr7:21502427-21502428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28661383	chr7:21502428-21502429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs569973118	chr7:21502462-21502463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190945238	chr7:21502474-21502475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181707516	chr7:21502488-21502489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534878165	chr7:21502496-21502497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536424849	chr7:21502511-21502512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556371883	chr7:21502532-21502533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576440465	chr7:21502626-21502627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538927803	chr7:21502629-21502630	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578120285	chr7:21502694-21502695	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558731549	chr7:21502741-21502742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186051387	chr7:21502758-21502759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527467164	chr7:21502761-21502762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190427938	chr7:21502772-21502773	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372423760	chr7:21502865-21502866	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183112050	chr7:21502867-21502868	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574711687	chr7:21502881-21502882	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs36067096	chr7:21502913-21502914	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201528309	chr7:21502925-21502926	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201981700	chr7:21502926-21502927	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543633982	chr7:21502943-21502944	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563522229	chr7:21502949-21502950	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144875324	chr7:21502950-21502951	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114366799	chr7:21502994-21502995	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187653579	chr7:21502995-21502996	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527242270	chr7:21503030-21503031	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21470400-21516600	Weak transcription	Liver	Liver
2	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
3	chr7:21472800-21506000	Weak transcription	Right Ventricle	heart
4	chr7:21474800-21520600	Weak transcription	Brain Angular Gyrus	brain
5	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
6	chr7:21491000-21526800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:21491000-21536400	Weak transcription	Left Ventricle	heart
8	chr7:21491400-21503000	Weak transcription	Gastric	stomach
9	chr7:21491800-21502200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:21492200-21545200	Weak transcription	Small Intestine	intestine
11	chr7:21493000-21539000	Weak transcription	Spleen	Spleen
12	chr7:21493800-21529600	Weak transcription	Brain Anterior Caudate	brain
13	chr7:21494000-21504600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:21494400-21505600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:21494400-21517400	Weak transcription	Fetal Kidney	kidney
16	chr7:21495200-21521600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:21495800-21516800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:21496000-21502800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:21496000-21516600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:21496000-21519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:21496200-21505400	Weak transcription	Ovary	ovary
22	chr7:21496200-21517800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:21496600-21503000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:21496600-21517600	Weak transcription	Dnd41	blood
25	chr7:21496600-21521600	Weak transcription	Adipose Nuclei	Adipose
26	chr7:21496800-21517600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:21497200-21516200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:21497600-21520800	Weak transcription	HUVEC	blood vessel
29	chr7:21497800-21502800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:21498000-21518800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:21498200-21503800	Weak transcription	Lung	lung
32	chr7:21498200-21532400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:21498600-21502000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:21498600-21543600	Weak transcription	Pancreas	Pancrea
35	chr7:21498800-21511800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:21498800-21517200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:21499200-21502000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr7:21499200-21507200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:21499600-21516600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:21500000-21502400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr7:21500000-21502600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:21500000-21503000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:21500000-21505200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:21500000-21512600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:21500000-21530400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr7:21500000-21552800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:21500200-21502600	Weak transcription	Primary T cells from cord blood	blood
48	chr7:21500200-21516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:21500200-21520600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr7:21500200-21520800	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links