Variant report

Variant	nsv549797
Chromosome Location	chr10:1736049-1756642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1748209..1750288-chr10:1756605..1758484,2	MCF-7	breast:
2	chr10:1748115..1750395-chr10:1750997..1753597,2	K562	blood:
3	chr10:1748115..1750395-chr10:1750997..1753597,2	K562	blood:
4	chr10:1748209..1750288-chr10:1756605..1758484,2	MCF-7	breast:
5	chr10:1745325..1745857-chr7:86849677..86850541,2	Hela-S3	cervix:
6	chr10:1749577..1751913-chr10:1752707..1755333,2	K562	blood:
7	chr10:1749577..1751913-chr10:1752707..1755333,2	K562	blood:

Variant related genes	Relation type
ENSG00000135185	chromatin interactions

Extended variants
information (count: 1007 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1007 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10903541	chr10:1736049-1736050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185926601	chr10:1736063-1736064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61831980	chr10:1736095-1736096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566691129	chr10:1736113-1736114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145200115	chr10:1736138-1736139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552433199	chr10:1736141-1736142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551837004	chr10:1736148-1736149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202088165	chr10:1736239-1736240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537837533	chr10:1736247-1736248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190799088	chr10:1736251-1736252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574477461	chr10:1736276-1736277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533609116	chr10:1736284-1736285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181076504	chr10:1736302-1736303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7923745	chr10:1736305-1736306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs546145393	chr10:1736357-1736358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186318870	chr10:1736360-1736361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557686230	chr10:1736363-1736364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11250735	chr10:1736367-1736368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150989443	chr10:1736419-1736420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7920548	chr10:1736420-1736421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs12269203	chr10:1736437-1736438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs72766776	chr10:1736438-1736439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17156756	chr10:1736512-1736513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532552898	chr10:1736544-1736545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552491126	chr10:1736573-1736574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61831981	chr10:1736578-1736579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113120411	chr10:1736605-1736606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531863601	chr10:1736614-1736615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7924155	chr10:1736632-1736633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529438046	chr10:1736639-1736640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371422875	chr10:1736643-1736644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61831982	chr10:1736683-1736684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533907274	chr10:1736701-1736702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544688106	chr10:1736702-1736703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553878973	chr10:1736704-1736705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112532591	chr10:1736718-1736719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35459108	chr10:1736748-1736749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575214460	chr10:1736752-1736753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11250736	chr10:1736783-1736784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs150163181	chr10:1736825-1736826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11250737	chr10:1736844-1736845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190239578	chr10:1736852-1736853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574335733	chr10:1736888-1736889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138671049	chr10:1736889-1736890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577805859	chr10:1736898-1736899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112516685	chr10:1736921-1736922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559973086	chr10:1736930-1736931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540755718	chr10:1736937-1736938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528628008	chr10:1736942-1736943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141216722	chr10:1736943-1736944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

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
11	chr10:1747200-1758200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:1747400-1748000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:1747800-1749600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr10:1748000-1748400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:1748200-1749200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr10:1748200-1749600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr10:1748200-1749600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr10:1748200-1749800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr10:1748200-1749800	Enhancers	Dnd41	blood
20	chr10:1748200-1750000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr10:1748200-1750000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr10:1748200-1750000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr10:1748400-1749200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
24	chr10:1748400-1749200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr10:1748400-1749600	Enhancers	Primary B cells from cord blood	blood
26	chr10:1748400-1749600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:1748400-1749800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr10:1748400-1750000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
29	chr10:1748400-1750400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr10:1748400-1750400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:1748600-1749800	ZNF genes & repeats	GM12878-XiMat	blood
32	chr10:1748800-1749800	Enhancers	Primary T cells from cord blood	blood
33	chr10:1749000-1749400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr10:1749000-1749400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:1749200-1750000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr10:1749400-1749600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:1749800-1753200	Enhancers	Fetal Lung	lung
38	chr10:1750200-1758000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr10:1750600-1752800	Enhancers	Fetal Stomach	stomach
40	chr10:1751000-1751800	Enhancers	Fetal Brain Male	brain
41	chr10:1751200-1752800	Enhancers	Fetal Kidney	kidney
42	chr10:1751400-1752800	Weak transcription	GM12878-XiMat	blood
43	chr10:1751800-1752000	Flanking Active TSS	Fetal Brain Male	brain
44	chr10:1751800-1752800	Enhancers	Brain Germinal Matrix	brain
45	chr10:1752000-1753000	Weak transcription	Fetal Brain Male	brain
46	chr10:1752800-1753000	Bivalent Enhancer	Fetal Stomach	stomach
47	chr10:1752800-1753000	ZNF genes & repeats	GM12878-XiMat	blood
48	chr10:1753000-1754600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr10:1753000-1754600	Weak transcription	GM12878-XiMat	blood
50	chr10:1753200-1753600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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