Variant report

Variant	nsv520842
Chromosome Location	chr10:28419760-28422708
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	chr10:28415197..28416716-chr10:28418291..28420406,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2997200	chr10:28419760-28419761	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573596466	chr10:28419772-28419773	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs12761819	chr10:28419979-28419980	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552700417	chr10:28419993-28419994	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574368927	chr10:28420015-28420016	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141163502	chr10:28420018-28420019	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191725173	chr10:28420038-28420039	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143488175	chr10:28420054-28420055	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575122614	chr10:28420091-28420092	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183580741	chr10:28420109-28420110	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187276872	chr10:28420120-28420121	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563903128	chr10:28420134-28420135	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528379498	chr10:28420171-28420172	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540473435	chr10:28420172-28420173	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11006890	chr10:28420181-28420182	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73606077	chr10:28420246-28420247	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550826021	chr10:28420261-28420262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112768068	chr10:28420315-28420316	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569396746	chr10:28420349-28420350	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78208417	chr10:28420364-28420365	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552015262	chr10:28420423-28420424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs41467848	chr10:28420434-28420435	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374594780	chr10:28420437-28420438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200656300	chr10:28420514-28420515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200608363	chr10:28420515-28420516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs267602464	chr10:28420516-28420517	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556013394	chr10:28420524-28420525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376428625	chr10:28420558-28420559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200070555	chr10:28420560-28420561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370853057	chr10:28420563-28420564	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535405832	chr10:28420567-28420568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373507998	chr10:28420574-28420575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145809120	chr10:28420579-28420580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376512908	chr10:28420612-28420613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148990738	chr10:28420619-28420620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145596649	chr10:28420620-28420621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557532955	chr10:28420636-28420637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs41283718	chr10:28420664-28420665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561498584	chr10:28420710-28420711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540192457	chr10:28420716-28420717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73606078	chr10:28420748-28420749	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs529148969	chr10:28420781-28420782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34113079	chr10:28420793-28420794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191752166	chr10:28420825-28420826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12415831	chr10:28420840-28420841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562831855	chr10:28420856-28420857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183843502	chr10:28420869-28420870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186670210	chr10:28420923-28420924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567109059	chr10:28420948-28420949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560774518	chr10:28420956-28420957	Weak transcription Strong 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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28367800-28420200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:28376000-28438400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr10:28378600-28425600	Weak transcription	Colon Smooth Muscle	Colon
4	chr10:28396400-28422400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:28403600-28443200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:28406600-28421600	Weak transcription	Primary B cells from cord blood	blood
7	chr10:28409600-28427800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:28410400-28420600	Weak transcription	HepG2	liver
9	chr10:28411000-28421000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr10:28413000-28424200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr10:28413200-28426200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:28413200-28440600	Weak transcription	Left Ventricle	heart
13	chr10:28413800-28425400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr10:28414200-28420800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr10:28416000-28422000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:28416200-28420600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr10:28416200-28425200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr10:28416800-28423800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:28417000-28421000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr10:28417000-28449200	Weak transcription	Pancreas	Pancrea
21	chr10:28417200-28421200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:28417200-28421600	Weak transcription	Lung	lung
23	chr10:28417200-28422000	Weak transcription	Fetal Intestine Small	intestine
24	chr10:28417200-28422600	Weak transcription	Fetal Stomach	stomach
25	chr10:28417600-28458000	Weak transcription	Aorta	Aorta
26	chr10:28418000-28425600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr10:28418600-28419800	Enhancers	HSMM	muscle
28	chr10:28418600-28421000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr10:28418800-28419800	Enhancers	HSMMtube	muscle
30	chr10:28418800-28420400	Enhancers	Hela-S3	cervix
31	chr10:28418800-28420600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:28419000-28420200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:28419200-28419800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:28419200-28419800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr10:28419200-28419800	Flanking Active TSS	HUVEC	blood vessel
36	chr10:28419200-28419800	Enhancers	NH-A	brain
37	chr10:28419200-28419800	Enhancers	NHEK	skin
38	chr10:28419200-28419800	Enhancers	Osteobl	bone
39	chr10:28419400-28420600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr10:28419400-28422000	Weak transcription	Primary T cells from cord blood	blood
41	chr10:28419600-28420200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr10:28419600-28421800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:28419600-28422200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr10:28419600-28422200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr10:28419600-28422400	Weak transcription	Fetal Intestine Large	intestine
46	chr10:28419600-28424000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr10:28419600-28425800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr10:28419800-28420600	Enhancers	HUVEC	blood vessel
49	chr10:28419800-28426200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr10:28419800-28426600	Weak transcription	HSMMtube	muscle

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