Variant report

Variant	nsv549791
Chromosome Location	chr10:1479049-1511786
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1492338..1494093-chr10:1506566..1508696,2	MCF-7	breast:
2	chr10:1491263..1494069-chr10:1495929..1498384,2	K562	blood:
3	chr10:1449013..1451560-chr10:1498248..1499822,2	K562	blood:
4	chr10:1487270..1489622-chr10:1493711..1495334,2	K562	blood:
5	chr10:1462723..1464898-chr10:1498013..1500643,2	MCF-7	breast:
6	chr10:1487270..1489622-chr10:1493711..1495334,2	K562	blood:
7	chr10:1492338..1494093-chr10:1506566..1508696,2	MCF-7	breast:
8	chr10:1491263..1494069-chr10:1495929..1498384,2	K562	blood:
9	chr10:1482761..1485630-chr17:57914430..57916527,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000062716	chromatin interactions

Extended variants
information (count: 1603 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1603 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10508209	chr10:1479049-1479050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534886607	chr10:1479190-1479191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558449260	chr10:1479226-1479227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533833118	chr10:1479233-1479234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370096463	chr10:1479246-1479247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2820650	chr10:1479262-1479263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192776880	chr10:1479379-1479380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556947131	chr10:1479401-1479402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573674554	chr10:1479411-1479412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200361666	chr10:1479414-1479415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542746345	chr10:1479417-1479418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61565056	chr10:1479427-1479428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4880852	chr10:1479428-1479429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374511307	chr10:1479438-1479439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201251061	chr10:1479440-1479441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201799498	chr10:1479445-1479446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199858584	chr10:1479446-1479447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200624082	chr10:1479448-1479449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142382073	chr10:1479450-1479451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374328380	chr10:1479451-1479452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56133902	chr10:1479457-1479458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115027254	chr10:1479458-1479459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143138804	chr10:1479460-1479461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373684558	chr10:1479462-1479463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117568394	chr10:1479463-1479464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4880853	chr10:1479478-1479479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs2805551	chr10:1479503-1479504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs184852429	chr10:1479522-1479523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530670924	chr10:1479523-1479524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189365560	chr10:1479552-1479553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148921026	chr10:1479559-1479560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143663864	chr10:1479566-1479567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138250863	chr10:1479656-1479657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566013837	chr10:1479657-1479658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191441161	chr10:1479668-1479669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558030584	chr10:1479723-1479724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571969638	chr10:1479730-1479731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141286163	chr10:1479741-1479742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369030124	chr10:1479742-1479743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183643401	chr10:1479760-1479761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2387675	chr10:1479767-1479768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560195148	chr10:1479796-1479797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542235306	chr10:1479804-1479805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532118358	chr10:1479824-1479825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76436910	chr10:1479838-1479839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372137762	chr10:1479866-1479867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189524545	chr10:1479886-1479887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77311089	chr10:1479887-1479888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564784452	chr10:1479890-1479891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2387676	chr10:1479905-1479906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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
Cancer	20164919	CNVD
Glioma	20126413	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	chr10:1475600-1479400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:1475800-1482200	Weak transcription	Gastric	stomach
3	chr10:1477800-1480200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:1478000-1484200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr10:1480200-1480400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:1480200-1480400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:1480200-1480400	Enhancers	Dnd41	blood
8	chr10:1480400-1482800	Weak transcription	Dnd41	blood
9	chr10:1482200-1483200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:1482200-1483400	Enhancers	Gastric	stomach
11	chr10:1482400-1483200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr10:1482400-1483200	Enhancers	Liver	Liver
13	chr10:1482800-1483200	Enhancers	Stomach Mucosa	stomach
14	chr10:1482800-1484800	Enhancers	Dnd41	blood
15	chr10:1483000-1483400	Enhancers	Duodenum Mucosa	Duodenum
16	chr10:1484200-1484600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr10:1488800-1489000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:1489400-1491600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:1490200-1491800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr10:1490200-1494400	Enhancers	Fetal Lung	lung
21	chr10:1490400-1491200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr10:1490400-1491800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr10:1490600-1490800	Enhancers	Lung	lung
24	chr10:1490600-1491200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr10:1490600-1491200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:1490600-1491200	Enhancers	Gastric	stomach
27	chr10:1490600-1491400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:1490600-1491400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr10:1490600-1491800	Enhancers	Stomach Mucosa	stomach
30	chr10:1490800-1491200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr10:1490800-1491200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr10:1490800-1491200	Enhancers	Pancreas	Pancrea
33	chr10:1491000-1491200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr10:1491000-1493800	Enhancers	Esophagus	oesophagus
35	chr10:1491200-1492200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:1491200-1492200	Weak transcription	Gastric	stomach
37	chr10:1491200-1492800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr10:1491400-1491600	Enhancers	Lung	lung
39	chr10:1491400-1495000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr10:1491400-1495000	Weak transcription	Dnd41	blood
41	chr10:1491600-1493000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:1491800-1492200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr10:1491800-1492400	Bivalent Enhancer	Stomach Mucosa	stomach
44	chr10:1492200-1492400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr10:1492200-1492600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:1492200-1492800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr10:1492200-1494400	Enhancers	Gastric	stomach
48	chr10:1492400-1493600	Enhancers	Stomach Mucosa	stomach
49	chr10:1492800-1493000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr10:1493000-1493600	Enhancers	Sigmoid Colon	Sigmoid Colon

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