Variant report

Variant	esv3446890
Chromosome Location	chr10:1701842-1702283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559834549	chr10:1701846-1701847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11250713	chr10:1701872-1701873	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376320208	chr10:1701904-1701905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113690205	chr10:1701907-1701908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143070023	chr10:1701930-1701931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539379597	chr10:1701932-1701933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148230218	chr10:1701942-1701943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113278256	chr10:1701971-1701972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373486509	chr10:1702022-1702023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28678174	chr10:1702023-1702024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75169595	chr10:1702035-1702036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12415358	chr10:1702051-1702052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75995533	chr10:1702063-1702064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75202972	chr10:1702076-1702077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76575581	chr10:1702090-1702091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55958204	chr10:1702092-1702093	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554252979	chr10:1702112-1702113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192519303	chr10:1702140-1702141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185411481	chr10:1702143-1702144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80114960	chr10:1702144-1702145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553593440	chr10:1702146-1702147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576638501	chr10:1702177-1702178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11817832	chr10:1702184-1702185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11815407	chr10:1702197-1702198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77175002	chr10:1702211-1702212	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190312872	chr10:1702216-1702217	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372003844	chr10:1702260-1702261	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76486731	chr10:1702265-1702266	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11817420	chr10:1702277-1702278	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11815421	chr10:1702283-1702284	Enhancers Bivalent Enhancer 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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1695200-1704000	Weak transcription	Spleen	Spleen
2	chr10:1695400-1712000	Weak transcription	Gastric	stomach
3	chr10:1697600-1702200	Weak transcription	Pancreas	Pancrea
4	chr10:1697800-1703600	Weak transcription	GM12878-XiMat	blood
5	chr10:1700600-1702000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr10:1700800-1702000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr10:1700800-1702200	Enhancers	Brain Hippocampus Middle	brain
8	chr10:1700800-1703400	Weak transcription	Dnd41	blood
9	chr10:1701000-1702400	Enhancers	Brain Germinal Matrix	brain
10	chr10:1701000-1706000	Weak transcription	Brain Substantia Nigra	brain
11	chr10:1701400-1702400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:1701400-1706000	Weak transcription	Fetal Brain Female	brain
13	chr10:1701400-1710200	Weak transcription	Fetal Brain Male	brain
14	chr10:1701800-1702000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:1702200-1702400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr10:1702200-1702400	Bivalent Enhancer	Brain Hippocampus Middle	brain
17	chr10:1702200-1703000	Enhancers	Pancreas	Pancrea

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