Variant report

Variant	nsv947795
Chromosome Location	chr10:28430433-28433770
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	chr10:28433533..28435848-chr10:28435858..28437751,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150998870	chr10:28430508-28430509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7071072	chr10:28430527-28430528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554621451	chr10:28430536-28430537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78131314	chr10:28430572-28430573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11006893	chr10:28430573-28430574	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559065615	chr10:28430659-28430660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2985525	chr10:28430660-28430661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541704588	chr10:28430668-28430669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs199905520	chr10:28430691-28430692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548271919	chr10:28430700-28430701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559931587	chr10:28430724-28430725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10826405	chr10:28430740-28430741	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542775776	chr10:28430751-28430752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189652026	chr10:28430785-28430786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144378013	chr10:28430861-28430862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72803635	chr10:28430879-28430880	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559497360	chr10:28430918-28430919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180814089	chr10:28430932-28430933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565046251	chr10:28430958-28430959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532350078	chr10:28430959-28430960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547653977	chr10:28431023-28431024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs67781163	chr10:28431034-28431035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs75481632	chr10:28431038-28431039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16928532	chr10:28431047-28431048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184830552	chr10:28431080-28431081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553611500	chr10:28431109-28431110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370142002	chr10:28431142-28431143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78696134	chr10:28431158-28431159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147910716	chr10:28431255-28431256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535043256	chr10:28431266-28431267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35206940	chr10:28431267-28431268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35470521	chr10:28431270-28431271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553611280	chr10:28431296-28431297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141633418	chr10:28431400-28431401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550491649	chr10:28431411-28431412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563936652	chr10:28431425-28431426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542661716	chr10:28431448-28431449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76195890	chr10:28431489-28431490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3902060	chr10:28431530-28431531	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543501958	chr10:28431536-28431537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564974283	chr10:28431540-28431541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566960853	chr10:28431575-28431576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150413064	chr10:28431626-28431627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540839945	chr10:28431647-28431648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189250830	chr10:28431701-28431702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529897144	chr10:28431752-28431753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371349776	chr10:28431761-28431762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548178402	chr10:28431768-28431769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535447100	chr10:28431806-28431807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536400252	chr10:28431830-28431831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
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
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28376000-28438400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:28403600-28443200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:28413200-28440600	Weak transcription	Left Ventricle	heart
4	chr10:28417000-28449200	Weak transcription	Pancreas	Pancrea
5	chr10:28417600-28458000	Weak transcription	Aorta	Aorta
6	chr10:28426400-28435800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr10:28426600-28431200	Enhancers	HUVEC	blood vessel
8	chr10:28426800-28438400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr10:28427200-28438200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:28427200-28440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:28427200-28448600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr10:28427400-28435600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr10:28427600-28431200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr10:28427600-28436000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr10:28428000-28435600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr10:28428200-28436000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:28428400-28434400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:28428400-28435600	Weak transcription	Primary T cells from cord blood	blood
19	chr10:28428400-28435800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:28428400-28435800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr10:28429400-28432000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr10:28430000-28437600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr10:28430400-28430600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:28430600-28441400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr10:28431200-28431800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr10:28431600-28436600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:28431800-28434200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr10:28432000-28439600	Strong transcription	Primary monocytes fromperipheralblood	blood

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