Variant report

Variant	nsv982845
Chromosome Location	chr10:19935782-19949768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:19874981..19877744-chr10:19939869..19941893,2	MCF-7	breast:
2	chr10:19943628..19945748-chr10:19960912..19962861,2	K562	blood:
3	chr10:19928272..19930845-chr10:19944987..19947653,2	K562	blood:

Extended variants
information (count: 627 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115120212	chr10:19935784-19935785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191432269	chr10:19935788-19935789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12413789	chr10:19935793-19935794	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540419204	chr10:19935832-19935833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181352577	chr10:19935847-19935848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376668175	chr10:19935885-19935886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532647812	chr10:19936009-19936010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10827734	chr10:19936037-19936038	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569201985	chr10:19936038-19936039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116903802	chr10:19936075-19936076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547052371	chr10:19936093-19936094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565455083	chr10:19936105-19936106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10827735	chr10:19936149-19936150	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555956310	chr10:19936179-19936180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201721506	chr10:19936183-19936184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534320879	chr10:19936230-19936231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558761328	chr10:19936272-19936273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144044564	chr10:19936297-19936298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375786035	chr10:19936307-19936308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556506165	chr10:19936318-19936319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10827736	chr10:19936320-19936321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs148689069	chr10:19936323-19936324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553772117	chr10:19936340-19936341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572032241	chr10:19936360-19936361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545523280	chr10:19936395-19936396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1326983	chr10:19936411-19936412	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532585660	chr10:19936412-19936413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200686402	chr10:19936452-19936453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544465431	chr10:19936463-19936464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185828819	chr10:19936485-19936486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530462126	chr10:19936512-19936513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548270853	chr10:19936517-19936518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190630371	chr10:19936531-19936532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560562110	chr10:19936562-19936563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527757514	chr10:19936569-19936570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552719452	chr10:19936580-19936581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143522716	chr10:19936587-19936588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578040521	chr10:19936628-19936629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146296544	chr10:19936671-19936672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139543809	chr10:19936672-19936673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535768916	chr10:19936728-19936729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553471717	chr10:19936753-19936754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367866822	chr10:19936776-19936777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374820504	chr10:19936782-19936783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7474617	chr10:19936785-19936786	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs201366349	chr10:19936831-19936832	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537352541	chr10:19936849-19936850	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144213464	chr10:19936876-19936877	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183160446	chr10:19936882-19936883	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369010992	chr10:19936889-19936890	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19928200-19936400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:19928400-19945600	Weak transcription	Fetal Intestine Small	intestine
3	chr10:19928600-19936800	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19929800-19940200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:19935000-19936000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:19935000-19936400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:19935200-19936000	Enhancers	Fetal Lung	lung
8	chr10:19935400-19936800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:19936400-19937000	Strong transcription	Duodenum Mucosa	Duodenum
10	chr10:19936800-19937200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:19936800-19937400	Strong transcription	Fetal Intestine Large	intestine
12	chr10:19937000-19945400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr10:19937200-19940800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:19937400-19945600	Weak transcription	Fetal Intestine Large	intestine
15	chr10:19939800-19940400	Weak transcription	HSMMtube	muscle
16	chr10:19940000-19941200	Enhancers	NHLF	lung
17	chr10:19940200-19941000	Enhancers	HSMM	muscle
18	chr10:19940200-19941200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr10:19940200-19942000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:19940200-19942200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:19940400-19940600	Enhancers	HSMMtube	muscle
22	chr10:19940400-19940800	Weak transcription	Aorta	Aorta
23	chr10:19940400-19941000	Enhancers	NH-A	brain
24	chr10:19940400-19941200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:19940400-19941200	Enhancers	Osteobl	bone
26	chr10:19940400-19941400	Enhancers	NHEK	skin
27	chr10:19940400-19941600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr10:19940600-19940800	Weak transcription	HSMMtube	muscle
29	chr10:19940600-19941000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:19940600-19941400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:19940800-19941000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:19940800-19941000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr10:19940800-19941000	ZNF genes & repeats	Aorta	Aorta
34	chr10:19940800-19941200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:19940800-19941200	ZNF genes & repeats	HSMMtube	muscle
36	chr10:19940800-19941600	Enhancers	HMEC	breast
37	chr10:19940800-19941800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr10:19940800-19943400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:19941000-19942400	Weak transcription	HSMM	muscle
40	chr10:19941000-19942800	Weak transcription	NH-A	brain
41	chr10:19941000-19943000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:19941000-19948800	Weak transcription	Aorta	Aorta
43	chr10:19941200-19941600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:19941200-19941800	Weak transcription	HSMMtube	muscle
45	chr10:19941200-19942400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr10:19941200-19942800	Weak transcription	Osteobl	bone
47	chr10:19941200-19943000	Weak transcription	NHLF	lung
48	chr10:19941200-19943200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr10:19941400-19942600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr10:19941400-19943200	Weak transcription	NHEK	skin

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