Variant report

Variant	esv14971
Chromosome Location	chr8:35195413-35201496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 212 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191737925	chr8:35195441-35195442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545330593	chr8:35195468-35195469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144261975	chr8:35195505-35195506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146554745	chr8:35195612-35195613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140016079	chr8:35195639-35195640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183184638	chr8:35195647-35195648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186528669	chr8:35195670-35195671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531334309	chr8:35195673-35195674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190996663	chr8:35195698-35195699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549450764	chr8:35195718-35195719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570951531	chr8:35195719-35195720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572035997	chr8:35195722-35195723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142479005	chr8:35195769-35195770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548072827	chr8:35195784-35195785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151325218	chr8:35195797-35195798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566208678	chr8:35195808-35195809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140579042	chr8:35195831-35195832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555228612	chr8:35195919-35195920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570245447	chr8:35195920-35195921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537580732	chr8:35195943-35195944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559088995	chr8:35195970-35195971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527339637	chr8:35195972-35195973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369787985	chr8:35195989-35195990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577169024	chr8:35196047-35196048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150458784	chr8:35196069-35196070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78740381	chr8:35196082-35196083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10089135	chr8:35196132-35196133	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182076224	chr8:35196162-35196163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186726459	chr8:35196219-35196220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570241610	chr8:35196268-35196269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537521187	chr8:35196269-35196270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373414949	chr8:35196318-35196319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145313607	chr8:35196319-35196320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192358875	chr8:35196334-35196335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532148898	chr8:35196335-35196336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376395072	chr8:35196342-35196343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183402843	chr8:35196360-35196361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559278696	chr8:35196390-35196391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545255428	chr8:35196395-35196396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10105890	chr8:35196417-35196418	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569067489	chr8:35196444-35196445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150692000	chr8:35196453-35196454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548888988	chr8:35196468-35196469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372812893	chr8:35196492-35196493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75696662	chr8:35196525-35196526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552711170	chr8:35196603-35196604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570825418	chr8:35196622-35196623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536954277	chr8:35196700-35196701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11996793	chr8:35196801-35196802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188562648	chr8:35196820-35196821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35185400-35196200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:35185400-35204000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:35187800-35200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:35188800-35201000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:35188800-35201000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:35189800-35200200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:35190600-35201400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:35191600-35199800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:35193800-35196800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:35195000-35196600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:35195200-35195800	Weak transcription	Fetal Brain Male	brain
12	chr8:35195800-35196600	Enhancers	Fetal Brain Male	brain
13	chr8:35196000-35196400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:35196000-35196400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:35196000-35198400	Enhancers	Fetal Heart	heart
16	chr8:35196200-35196400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:35196200-35196800	Enhancers	Brain Angular Gyrus	brain
18	chr8:35196400-35196600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:35196800-35201000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:35199800-35200400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr8:35200200-35200400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:35200200-35203800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr8:35200400-35200800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:35200400-35202000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:35200800-35201000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:35201000-35201600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:35201000-35201600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr8:35201000-35202200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:35201000-35202800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:35201400-35202200	Enhancers	H1 Cell Line	embryonic stem cell

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