Variant report

Variant	nsv1043619
Chromosome Location	chr10:1732716-1757007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000135185	chromatin interactions

Extended variants
information (count: 1176 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1176 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183046541	chr10:1732767-1732768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150936354	chr10:1732816-1732817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565702614	chr10:1732822-1732823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370744113	chr10:1732832-1732833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140734061	chr10:1732851-1732852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145853720	chr10:1732885-1732886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11250734	chr10:1732890-1732891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115491862	chr10:1732891-1732892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17294075	chr10:1732901-1732902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541926336	chr10:1732912-1732913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562331976	chr10:1732945-1732946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527861455	chr10:1732959-1732960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74829531	chr10:1732977-1732978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541745548	chr10:1732981-1732982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564617105	chr10:1732996-1732997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368254558	chr10:1732999-1733000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113438800	chr10:1733060-1733061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112511986	chr10:1733076-1733077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549806340	chr10:1733095-1733096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368537576	chr10:1733112-1733113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141329810	chr10:1733126-1733127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529014040	chr10:1733165-1733166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548773808	chr10:1733174-1733175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565893737	chr10:1733182-1733183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534500066	chr10:1733189-1733190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538012342	chr10:1733190-1733191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146984089	chr10:1733197-1733198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138065241	chr10:1733213-1733214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556156681	chr10:1733249-1733250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537168336	chr10:1733318-1733319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535975392	chr10:1733350-1733351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555566282	chr10:1733371-1733372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542293611	chr10:1733397-1733398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183029567	chr10:1733445-1733446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187701004	chr10:1733447-1733448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541264195	chr10:1733463-1733464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558996184	chr10:1733517-1733518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149115827	chr10:1733535-1733536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578252544	chr10:1733666-1733667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544094676	chr10:1733682-1733683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563294610	chr10:1733718-1733719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528092101	chr10:1733780-1733781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143641259	chr10:1733789-1733790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551117828	chr10:1733805-1733806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374438054	chr10:1733807-1733808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544565403	chr10:1733818-1733819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559172060	chr10:1733832-1733833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367732961	chr10:1733836-1733837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192617078	chr10:1733856-1733857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551286317	chr10:1733880-1733881	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1718400-1734200	Weak transcription	GM12878-XiMat	blood
2	chr10:1728200-1738000	Weak transcription	Pancreas	Pancrea
3	chr10:1731000-1733000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:1733000-1733200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:1733200-1733400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:1734200-1734800	Enhancers	GM12878-XiMat	blood
7	chr10:1737800-1738400	Bivalent/Poised TSS	Fetal Lung	lung
8	chr10:1738000-1738200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr10:1738000-1738200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:1738000-1738200	Enhancers	Pancreas	Pancrea
11	chr10:1738200-1738600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:1738200-1739000	Weak transcription	Pancreas	Pancrea
13	chr10:1738200-1740200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:1743400-1751000	Weak transcription	Fetal Brain Male	brain
15	chr10:1745800-1747200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr10:1747200-1758200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:1747400-1748000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:1747800-1749600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr10:1748000-1748400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:1748200-1749200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr10:1748200-1749600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr10:1748200-1749600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr10:1748200-1749800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr10:1748200-1749800	Enhancers	Dnd41	blood
25	chr10:1748200-1750000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr10:1748200-1750000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr10:1748200-1750000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr10:1748400-1749200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
29	chr10:1748400-1749200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr10:1748400-1749600	Enhancers	Primary B cells from cord blood	blood
31	chr10:1748400-1749600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr10:1748400-1749800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr10:1748400-1750000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
34	chr10:1748400-1750400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr10:1748400-1750400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr10:1748600-1749800	ZNF genes & repeats	GM12878-XiMat	blood
37	chr10:1748800-1749800	Enhancers	Primary T cells from cord blood	blood
38	chr10:1749000-1749400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr10:1749000-1749400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr10:1749200-1750000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr10:1749400-1749600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr10:1749800-1753200	Enhancers	Fetal Lung	lung
43	chr10:1750200-1758000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:1750600-1752800	Enhancers	Fetal Stomach	stomach
45	chr10:1751000-1751800	Enhancers	Fetal Brain Male	brain
46	chr10:1751200-1752800	Enhancers	Fetal Kidney	kidney
47	chr10:1751400-1752800	Weak transcription	GM12878-XiMat	blood
48	chr10:1751800-1752000	Flanking Active TSS	Fetal Brain Male	brain
49	chr10:1751800-1752800	Enhancers	Brain Germinal Matrix	brain
50	chr10:1752000-1753000	Weak transcription	Fetal Brain Male	brain

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