Variant report

Variant	nsv894740
Chromosome Location	chr10:1646899-1675548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1672309..1673852-chr10:1677430..1679876,2	MCF-7	breast:
2	chr10:1669032..1671336-chr10:1672737..1675449,2	MCF-7	breast:
3	chr10:1669134..1671598-chr10:1672246..1674379,2	K562	blood:
4	chr10:1637263..1639781-chr10:1644116..1647024,2	K562	blood:
5	chr10:1669032..1671336-chr10:1672737..1675449,2	MCF-7	breast:
6	chr10:1643971..1645583-chr10:1650285..1653262,2	K562	blood:
7	chr10:1669134..1671598-chr10:1672246..1674379,2	K562	blood:

Extended variants
information (count: 1505 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1505 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1112787	chr10:1646899-1646900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538330883	chr10:1646914-1646915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145733480	chr10:1646944-1646945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1112786	chr10:1646959-1646960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs374180183	chr10:1646968-1646969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11250659	chr10:1647010-1647011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554860905	chr10:1647026-1647027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574639449	chr10:1647039-1647040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113910489	chr10:1647046-1647047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148523416	chr10:1647070-1647071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142879073	chr10:1647077-1647078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10437529	chr10:1647114-1647115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs545539986	chr10:1647121-1647122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115338832	chr10:1647216-1647217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531143465	chr10:1647232-1647233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375921999	chr10:1647234-1647235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10903508	chr10:1647260-1647261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561673354	chr10:1647261-1647262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577101141	chr10:1647270-1647271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114544987	chr10:1647293-1647294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35886979	chr10:1647315-1647316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12412144	chr10:1647353-1647354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111734374	chr10:1647441-1647442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538222356	chr10:1647502-1647503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551872821	chr10:1647522-1647523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568573730	chr10:1647539-1647540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569493155	chr10:1647552-1647553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187139619	chr10:1647554-1647555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574708866	chr10:1647569-1647570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533820813	chr10:1647575-1647576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531356490	chr10:1647588-1647589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554078565	chr10:1647598-1647599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146598195	chr10:1647637-1647638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545380598	chr10:1647672-1647673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141337621	chr10:1647699-1647700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575645518	chr10:1647701-1647702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547889539	chr10:1647770-1647771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116811018	chr10:1647910-1647911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530451902	chr10:1647946-1647947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11250660	chr10:1647947-1647948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs11250661	chr10:1647948-1647949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531992703	chr10:1647984-1647985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116593919	chr10:1648012-1648013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568972359	chr10:1648027-1648028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537526531	chr10:1648028-1648029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145126322	chr10:1648032-1648033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568181433	chr10:1648033-1648034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372474730	chr10:1648042-1648043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146874578	chr10:1648070-1648071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570710530	chr10:1648120-1648121	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:231 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1634600-1648200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:1644600-1648600	Weak transcription	Fetal Thymus	thymus
3	chr10:1645000-1648400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:1648200-1648400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr10:1648200-1648600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:1648400-1648600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr10:1648400-1648600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr10:1648400-1648800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr10:1648600-1648800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr10:1648600-1649000	Enhancers	Fetal Thymus	thymus
11	chr10:1648600-1650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:1648800-1651000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr10:1649800-1651800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:1650200-1651000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr10:1650200-1651000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr10:1650200-1651600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:1650200-1652000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:1650400-1651000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr10:1650400-1651000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:1650400-1651000	Enhancers	Brain Germinal Matrix	brain
21	chr10:1650400-1651000	Enhancers	Fetal Brain Female	brain
22	chr10:1650400-1651800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:1650400-1652600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:1650600-1650800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr10:1650600-1650800	Enhancers	Brain Anterior Caudate	brain
26	chr10:1650600-1651000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr10:1650600-1651000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr10:1650600-1651000	Enhancers	Brain Hippocampus Middle	brain
29	chr10:1650600-1651000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:1650600-1651000	Enhancers	Brain Substantia Nigra	brain
31	chr10:1650600-1651200	Bivalent Enhancer	Fetal Lung	lung
32	chr10:1650600-1651400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:1650600-1651600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr10:1650600-1652200	Bivalent Enhancer	Fetal Brain Male	brain
35	chr10:1650800-1651000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr10:1650800-1651200	Active TSS	Brain Anterior Caudate	brain
37	chr10:1650800-1651400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
38	chr10:1651000-1651200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr10:1651000-1651200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr10:1651000-1651200	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr10:1651000-1651200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
42	chr10:1651000-1651200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:1651000-1651200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
44	chr10:1651000-1651200	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
45	chr10:1651000-1651400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr10:1651000-1651400	Active TSS	H9 Cell Line	embryonic stem cell
47	chr10:1651000-1651400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr10:1651000-1651400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr10:1651000-1651400	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr10:1651000-1651400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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