Variant report

Variant	nsv948243
Chromosome Location	chr10:19434786-19437488
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:19424011..19426061-chr10:19435541..19437655,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550933659	chr10:19434811-19434812	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7906085	chr10:19434841-19434842	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142932440	chr10:19434892-19434893	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146136664	chr10:19434898-19434899	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148794070	chr10:19434902-19434903	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546092440	chr10:19434927-19434928	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188938085	chr10:19434955-19434956	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141579654	chr10:19434957-19434958	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543499827	chr10:19434994-19434995	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79037718	chr10:19435018-19435019	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373319677	chr10:19435114-19435115	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117130229	chr10:19435118-19435119	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150497176	chr10:19435154-19435155	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370749228	chr10:19435155-19435156	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575840832	chr10:19435157-19435158	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377420386	chr10:19435165-19435166	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139474079	chr10:19435167-19435168	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111530988	chr10:19435191-19435192	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7907571	chr10:19435197-19435198	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181384734	chr10:19435214-19435215	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546556437	chr10:19435215-19435216	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186270977	chr10:19435258-19435259	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564455088	chr10:19435291-19435292	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148324352	chr10:19435292-19435293	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189646740	chr10:19435296-19435297	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12262909	chr10:19435369-19435370	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs34554794	chr10:19435376-19435377	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17646341	chr10:19435382-19435383	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553706189	chr10:19435389-19435390	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565747483	chr10:19435401-19435402	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539732717	chr10:19435405-19435406	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558074878	chr10:19435426-19435427	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180821490	chr10:19435427-19435428	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185915893	chr10:19435466-19435467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12255461	chr10:19435470-19435471	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs2686656	chr10:19435494-19435495	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs529392940	chr10:19435526-19435527	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190903561	chr10:19435640-19435641	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559350579	chr10:19435643-19435644	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533006775	chr10:19435705-19435706	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372117247	chr10:19435714-19435715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72790770	chr10:19435715-19435716	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563470353	chr10:19435807-19435808	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183141972	chr10:19435844-19435845	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185919148	chr10:19435870-19435871	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56224027	chr10:19435887-19435888	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190426139	chr10:19435905-19435906	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7896381	chr10:19435923-19435924	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs147793366	chr10:19435982-19435983	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539473097	chr10:19435983-19435984	Strong transcription Weak 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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19414800-19434800	Weak transcription	Small Intestine	intestine
2	chr10:19426600-19436000	Weak transcription	Fetal Intestine Small	intestine
3	chr10:19430400-19435000	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19433400-19434800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr10:19434800-19435000	Enhancers	Small Intestine	intestine
6	chr10:19434800-19437200	Strong transcription	Duodenum Mucosa	Duodenum
7	chr10:19435000-19439600	Strong transcription	Fetal Intestine Large	intestine
8	chr10:19435200-19435400	Enhancers	Fetal Kidney	kidney
9	chr10:19436000-19438400	Strong transcription	Fetal Intestine Small	intestine
10	chr10:19436400-19436800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:19437200-19438800	Weak transcription	Duodenum Mucosa	Duodenum

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