Variant report

Variant	nsv611311
Chromosome Location	chr8:50865230-50980320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:50709168..50710848-chr8:50931158..50933465,2	MCF-7	breast:
2	chr8:50947214..50948091-chr8:51310516..51311364,3	MCF-7	breast:
3	chr8:50906818..50909515-chr8:50916418..50918690,2	K562	blood:
4	chr8:50861606..50863840-chr8:50871624..50874600,2	MCF-7	breast:
5	chr8:50947077..50947745-chr8:51310573..51311162,2	MCF-7	breast:
6	chr8:50906818..50909515-chr8:50916418..50918690,2	K562	blood:
7	chr8:50925829..50927969-chr8:50932438..50935189,2	MCF-7	breast:
8	chr8:50925829..50927969-chr8:50932438..50935189,2	MCF-7	breast:

No data

Extended variants
information (count: 3855 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:3855 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16914081	chr8:50865230-50865231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540887049	chr8:50865243-50865244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546173193	chr8:50865267-50865268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11786880	chr8:50865341-50865342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111789980	chr8:50865342-50865343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545326242	chr8:50865359-50865360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141218702	chr8:50865372-50865373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372435528	chr8:50865408-50865409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184272106	chr8:50865418-50865419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189040183	chr8:50865426-50865427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199541138	chr8:50865427-50865428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562185532	chr8:50865444-50865445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529444942	chr8:50865468-50865469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547686533	chr8:50865484-50865485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35290348	chr8:50865498-50865499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566305830	chr8:50865518-50865519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572469787	chr8:50865519-50865520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114185639	chr8:50865523-50865524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181858081	chr8:50865524-50865525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144955934	chr8:50865529-50865530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540064515	chr8:50865535-50865536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536660803	chr8:50865569-50865570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186423484	chr8:50865613-50865614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11773979	chr8:50865653-50865654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534775288	chr8:50865718-50865719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552880671	chr8:50865746-50865747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111236496	chr8:50865748-50865749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10504093	chr8:50865830-50865831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs563591705	chr8:50865844-50865845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114135292	chr8:50865904-50865905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543841597	chr8:50865910-50865911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138806209	chr8:50865925-50865926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531234659	chr8:50865975-50865976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34440985	chr8:50865987-50865988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529363113	chr8:50866025-50866026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76468727	chr8:50866050-50866051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180909888	chr8:50866086-50866087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533607412	chr8:50866087-50866088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186238976	chr8:50866106-50866107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111846107	chr8:50866137-50866138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536599843	chr8:50866174-50866175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140627396	chr8:50866213-50866214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182780004	chr8:50866261-50866262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534414695	chr8:50866301-50866302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187510371	chr8:50866305-50866306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571321788	chr8:50866313-50866314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533943883	chr8:50866363-50866364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538849388	chr8:50866368-50866369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372474503	chr8:50866376-50866377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34997537	chr8:50866404-50866405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50855200-50875200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:50858400-50865800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:50858400-50870200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:50858400-50871600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:50860400-50875400	Weak transcription	Fetal Intestine Small	intestine
6	chr8:50865400-50865600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr8:50865800-50866000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr8:50865800-50868000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:50865800-50869200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:50866000-50867800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:50866000-50868600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:50866200-50866400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:50866200-50866400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr8:50866200-50868200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:50866200-50868400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:50866200-50868600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:50866200-50868600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:50866400-50867800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:50866600-50868400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:50866800-50867600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr8:50867800-50868000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:50867800-50868000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:50867800-50868000	Enhancers	Brain Cingulate Gyrus	brain
24	chr8:50867800-50868200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:50867800-50868200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:50867800-50868200	Enhancers	Brain Substantia Nigra	brain
27	chr8:50867800-50868400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr8:50867800-50868400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:50867800-50868400	Enhancers	Brain Anterior Caudate	brain
30	chr8:50867800-50868400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr8:50867800-50868400	Enhancers	HMEC	breast
32	chr8:50867800-50868600	Enhancers	Brain Germinal Matrix	brain
33	chr8:50867800-50869200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:50868000-50868400	Enhancers	Brain Hippocampus Middle	brain
35	chr8:50868000-50868600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr8:50868200-50869400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:50868400-50873200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:50868600-50869600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr8:50868600-50872600	Weak transcription	Brain Germinal Matrix	brain
40	chr8:50869400-50869800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:50869400-50870400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:50869400-50870400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:50869600-50870000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:50869600-50870200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:50869800-50870200	Enhancers	Fetal Lung	lung
46	chr8:50869800-50875000	Weak transcription	Fetal Brain Male	brain
47	chr8:50870000-50870400	Enhancers	NH-A	brain
48	chr8:50870200-50871000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:50870200-50875400	Weak transcription	Fetal Lung	lung
50	chr8:50870400-50875400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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