Variant report

Variant	esv1827302
Chromosome Location	chr8:51225496-51246823
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	chr8:51219065..51222213-chr8:51225649..51228332,3	K562	blood:
2	chr1:144893909..144894771-chr8:51229590..51230343,2	MCF-7	breast:

Extended variants
information (count: 502 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528423937	chr8:51236214-51236215	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs189452700	chr8:51236222-51236223	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs559172393	chr8:51236245-51236246	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576788632	chr8:51236272-51236273	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs537801099	chr8:51236310-51236311	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs117809428	chr8:51236333-51236334	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs537711211	chr8:51236338-51236339	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs557687662	chr8:51236365-51236366	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs71550226	chr8:51236407-51236408	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs71233484	chr8:51236408-51236409	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs397781043	chr8:51236415-51236416	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs11783674	chr8:51236428-51236429	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374332755	chr8:51236433-51236434	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs574242362	chr8:51236475-51236476	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs56890895	chr8:51236478-51236479	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564935352	chr8:51236497-51236498	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs560415351	chr8:51236509-51236510	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs572253833	chr8:51236516-51236517	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs545794377	chr8:51236543-51236544	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs28615617	chr8:51236577-51236578	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530385033	chr8:51236585-51236586	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192873893	chr8:51236628-51236629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78807508	chr8:51236671-51236672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139619113	chr8:51236685-51236686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530179095	chr8:51236713-51236714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548263525	chr8:51236730-51236731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149615259	chr8:51236735-51236736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368270495	chr8:51236760-51236761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73579268	chr8:51236761-51236762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571085726	chr8:51236763-51236764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28640202	chr8:51236819-51236820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs28546889	chr8:51236862-51236863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79707948	chr8:51236868-51236869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144316211	chr8:51236890-51236891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553868552	chr8:51236911-51236912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572291077	chr8:51236918-51236919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545933097	chr8:51236927-51236928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557774654	chr8:51236944-51236945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576324553	chr8:51236950-51236951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28814120	chr8:51236954-51236955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148801409	chr8:51236960-51236961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28845183	chr8:51236967-51236968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538990906	chr8:51236979-51236980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541942930	chr8:51236980-51236981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560166530	chr8:51236995-51236996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527892960	chr8:51237007-51237008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7462415	chr8:51237012-51237013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142442314	chr8:51237013-51237014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184120443	chr8:51237023-51237024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79349008	chr8:51237024-51237025	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
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
Lung cancer	18438408	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	17122850	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51236200-51236400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51236200-51236600	Active TSS	Fetal Heart	heart
3	chr8:51236400-51237800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:51238000-51238800	Enhancers	Liver	Liver
5	chr8:51238800-51239000	Flanking Active TSS	Liver	Liver
6	chr8:51239000-51239400	Active TSS	Liver	Liver
7	chr8:51239400-51239800	Flanking Active TSS	Liver	Liver
8	chr8:51239800-51241200	Enhancers	Liver	Liver
9	chr8:51240200-51240800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:51240800-51241200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:51241000-51242600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:51241000-51243000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr8:51241200-51241400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:51241200-51241800	Weak transcription	Liver	Liver
15	chr8:51241200-51242000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr8:51241400-51242400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr8:51241800-51242000	ZNF genes & repeats	Liver	Liver
18	chr8:51242000-51246800	Weak transcription	Liver	Liver
19	chr8:51242400-51243200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr8:51243200-51271600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:51246800-51247200	Enhancers	Liver	Liver

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