Variant report

Variant	esv998686
Chromosome Location	chr10:1737245-1746126
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	chr10:1745325..1745857-chr7:86849677..86850541,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000135185	chromatin interactions

Extended variants
information (count: 363 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531787681	chr10:1737282-1737283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542543251	chr10:1737287-1737288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562243822	chr10:1737288-1737289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11250740	chr10:1737317-1737318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546422900	chr10:1737327-1737328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148135285	chr10:1737354-1737355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564039717	chr10:1737359-1737360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546759578	chr10:1737409-1737410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80333798	chr10:1737460-1737461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549881733	chr10:1737463-1737464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566308988	chr10:1737473-1737474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368784341	chr10:1737492-1737493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535284474	chr10:1737496-1737497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549304952	chr10:1737501-1737502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141967050	chr10:1737547-1737548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74108988	chr10:1737560-1737561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553765436	chr10:1737586-1737587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150691506	chr10:1737606-1737607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139988795	chr10:1737607-1737608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556364558	chr10:1737623-1737624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371576039	chr10:1737648-1737649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549410647	chr10:1737672-1737673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373815347	chr10:1737702-1737703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562271044	chr10:1737707-1737708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537331483	chr10:1737712-1737713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572795074	chr10:1737713-1737714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144157398	chr10:1737717-1737718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564098937	chr10:1737724-1737725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367546784	chr10:1737726-1737727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532941919	chr10:1737744-1737745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540748897	chr10:1737749-1737750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540137267	chr10:1737777-1737778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190754788	chr10:1737798-1737799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535976940	chr10:1737813-1737814	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs5782591	chr10:1737815-1737816	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76570683	chr10:1737818-1737819	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9663274	chr10:1737822-1737823	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4440960	chr10:1737850-1737851	Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs147356425	chr10:1737856-1737857	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117685541	chr10:1737857-1737858	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183269212	chr10:1737860-1737861	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187688390	chr10:1737867-1737868	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368403443	chr10:1737868-1737869	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556476355	chr10:1737870-1737871	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544157325	chr10:1737880-1737881	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576472171	chr10:1737888-1737889	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139529268	chr10:1737889-1737890	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555708680	chr10:1737893-1737894	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540402102	chr10:1737901-1737902	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541714565	chr10:1737923-1737924	Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1728200-1738000	Weak transcription	Pancreas	Pancrea
2	chr10:1737800-1738400	Bivalent/Poised TSS	Fetal Lung	lung
3	chr10:1738000-1738200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
4	chr10:1738000-1738200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:1738000-1738200	Enhancers	Pancreas	Pancrea
6	chr10:1738200-1738600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr10:1738200-1739000	Weak transcription	Pancreas	Pancrea
8	chr10:1738200-1740200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr10:1743400-1751000	Weak transcription	Fetal Brain Male	brain
10	chr10:1745800-1747200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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