Variant report

Variant	nsv894932
Chromosome Location	chr10:19804415-19858518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:19814024..19815559-chr10:19817040..19818969,2	K562	blood:
2	chr10:19806044..19808111-chr10:19811941..19813567,2	K562	blood:
3	chr10:19814024..19815559-chr10:19817040..19818969,2	K562	blood:
4	chr10:19806044..19808111-chr10:19811941..19813567,2	K562	blood:
5	chr10:19813535..19816224-chr10:19819107..19822084,2	MCF-7	breast:
6	chr10:19813535..19816224-chr10:19819107..19822084,2	MCF-7	breast:

Extended variants
information (count: 2436 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:2436 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7087993	chr10:19804415-19804416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377215010	chr10:19804453-19804454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528003350	chr10:19804455-19804456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549923557	chr10:19804458-19804459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114078742	chr10:19804474-19804475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201431088	chr10:19804477-19804478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79996644	chr10:19804478-19804479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540087101	chr10:19804482-19804483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7071651	chr10:19804483-19804484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576926027	chr10:19804484-19804485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545503555	chr10:19804489-19804490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563584312	chr10:19804491-19804492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74840285	chr10:19804506-19804507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201012412	chr10:19804515-19804516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537203528	chr10:19804552-19804553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543033457	chr10:19804581-19804582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561613937	chr10:19804588-19804589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538918917	chr10:19804589-19804590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74661552	chr10:19804590-19804591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188692865	chr10:19804602-19804603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557301947	chr10:19804613-19804614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532569005	chr10:19804637-19804638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73595825	chr10:19804640-19804641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577199404	chr10:19804645-19804646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181121590	chr10:19804646-19804647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368292839	chr10:19804664-19804665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147933183	chr10:19804669-19804670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184906353	chr10:19804688-19804689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566460015	chr10:19804699-19804700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533822780	chr10:19804701-19804702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558541418	chr10:19804713-19804714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576967175	chr10:19804714-19804715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544034603	chr10:19804732-19804733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576563942	chr10:19804765-19804766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200438511	chr10:19804766-19804767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543936600	chr10:19804776-19804777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557466871	chr10:19804787-19804788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76230963	chr10:19804798-19804799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150495781	chr10:19804799-19804800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61841394	chr10:19804854-19804855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573238971	chr10:19804868-19804869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367812788	chr10:19804879-19804880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540943639	chr10:19804890-19804891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186023371	chr10:19804923-19804924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190938566	chr10:19804935-19804936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138377103	chr10:19804944-19804945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182249954	chr10:19804950-19804951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539485842	chr10:19804951-19804952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187346077	chr10:19805017-19805018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72788563	chr10:19805075-19805076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:44)

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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	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
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19793400-19804800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:19796200-19805200	Weak transcription	Fetal Intestine Large	intestine
3	chr10:19796200-19839400	Weak transcription	Aorta	Aorta
4	chr10:19806400-19806600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr10:19806800-19821800	Weak transcription	Fetal Intestine Large	intestine
6	chr10:19807400-19808000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:19807400-19821000	Weak transcription	Fetal Intestine Small	intestine
8	chr10:19818800-19827000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:19819600-19820400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr10:19819800-19820400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr10:19819800-19822600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr10:19820000-19820400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:19821000-19821400	Strong transcription	Fetal Intestine Small	intestine
14	chr10:19821400-19822400	Weak transcription	Fetal Intestine Small	intestine
15	chr10:19821800-19825400	Strong transcription	Fetal Intestine Large	intestine
16	chr10:19822400-19822800	Strong transcription	Fetal Intestine Small	intestine
17	chr10:19822800-19823800	Weak transcription	Fetal Intestine Small	intestine
18	chr10:19822800-19825800	Weak transcription	Fetal Lung	lung
19	chr10:19823800-19824200	Strong transcription	Fetal Intestine Small	intestine
20	chr10:19824200-19839400	Weak transcription	Fetal Intestine Small	intestine
21	chr10:19825400-19832400	Weak transcription	Fetal Intestine Large	intestine
22	chr10:19832000-19832800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr10:19832200-19833000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr10:19832400-19832800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr10:19832400-19832800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr10:19832400-19832800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr10:19832400-19833000	Strong transcription	Fetal Intestine Large	intestine
28	chr10:19833000-19833400	Weak transcription	Fetal Intestine Large	intestine
29	chr10:19833400-19834000	Strong transcription	Fetal Intestine Large	intestine
30	chr10:19834000-19840000	Weak transcription	Fetal Intestine Large	intestine
31	chr10:19835000-19836600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:19837800-19838200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr10:19838000-19838400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr10:19838000-19838800	Enhancers	Colon Smooth Muscle	Colon
35	chr10:19839400-19839600	ZNF genes & repeats	Aorta	Aorta
36	chr10:19839400-19839800	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr10:19839600-19840000	Weak transcription	Aorta	Aorta
38	chr10:19839800-19875400	Weak transcription	Fetal Intestine Small	intestine
39	chr10:19840000-19840400	ZNF genes & repeats	Fetal Intestine Large	intestine
40	chr10:19840400-19856400	Weak transcription	Fetal Intestine Large	intestine
41	chr10:19850000-19850200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:19850200-19850800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:19850400-19850600	Enhancers	Fetal Brain Male	brain
44	chr10:19850800-19851600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:19851600-19858800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:19852400-19852800	Enhancers	Brain Germinal Matrix	brain
47	chr10:19852400-19853000	Enhancers	Aorta	Aorta
48	chr10:19852600-19853000	Enhancers	Fetal Brain Male	brain
49	chr10:19853000-19866400	Weak transcription	Aorta	Aorta
50	chr10:19856400-19857200	Strong transcription	Fetal Intestine Large	intestine

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