Variant report

Variant	nsv528170
Chromosome Location	chr2:38853095-38854024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38850061..38855322-chr2:38870938..38874508,5	K562	blood:
2	chr2:38852070..38854007-chr2:38978194..38979843,2	MCF-7	breast:
3	chr2:38827906..38831148-chr2:38849873..38855053,6	K562	blood:
4	chr2:38828271..38831581-chr2:38848960..38853344,4	K562	blood:
5	chr2:38853457..38857426-chr2:38859030..38862948,5	K562	blood:

Variant related genes	Relation type
ENSG00000235586	chromatin interactions
ENSG00000143889	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000152147	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17023003	chr2:38853095-38853096	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191841494	chr2:38853145-38853146	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs563642278	chr2:38853159-38853160	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs138824188	chr2:38853175-38853176	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs556275899	chr2:38853181-38853182	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs558111919	chr2:38853202-38853203	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs542943282	chr2:38853313-38853314	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs571369646	chr2:38853398-38853399	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs140486352	chr2:38853419-38853420	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs184801045	chr2:38853482-38853483	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs372370679	chr2:38853506-38853507	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs538481670	chr2:38853566-38853567	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs528045591	chr2:38853574-38853575	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs374325124	chr2:38853582-38853583	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs145912795	chr2:38853610-38853611	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs564932130	chr2:38853648-38853649	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs532349153	chr2:38853650-38853651	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs572058016	chr2:38853653-38853654	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs540224824	chr2:38853660-38853661	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs138472314	chr2:38853734-38853735	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs555488386	chr2:38853735-38853736	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs569061586	chr2:38853737-38853738	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs536583430	chr2:38853806-38853807	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs149626006	chr2:38853815-38853816	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs572778690	chr2:38853828-38853829	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs189656518	chr2:38853848-38853849	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs553445409	chr2:38853849-38853850	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs577671591	chr2:38853859-38853860	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs144338525	chr2:38853865-38853866	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs557172990	chr2:38853914-38853915	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs575418804	chr2:38854011-38854012	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs543334566	chr2:38854015-38854016	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs6742843	chr2:38854024-38854025	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	16272173	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:38847400-38853400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:38848200-38854000	Weak transcription	Stomach Mucosa	stomach
4	chr2:38849800-38855400	Weak transcription	GM12878-XiMat	blood
5	chr2:38849800-38855600	Enhancers	Fetal Thymus	thymus
6	chr2:38850000-38854800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:38850400-38853400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:38850400-38853400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:38851800-38853200	Enhancers	Dnd41	blood
10	chr2:38851800-38853200	Enhancers	K562	blood
11	chr2:38851800-38853400	Enhancers	Thymus	Thymus
12	chr2:38852200-38853800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:38852400-38853600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:38852400-38854400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr2:38852600-38854000	Enhancers	HepG2	liver
16	chr2:38853000-38853400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr2:38853000-38854000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:38853000-38854000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:38853000-38854400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:38853000-38854400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:38853000-38854600	Enhancers	Primary hematopoietic stem cells	blood
22	chr2:38853000-38854600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:38853000-38854800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:38853000-38855000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:38853200-38853400	Flanking Active TSS	K562	blood
26	chr2:38853200-38854000	Enhancers	Primary T cells from cord blood	blood
27	chr2:38853200-38854200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr2:38853200-38854600	Flanking Active TSS	Dnd41	blood
29	chr2:38853400-38853600	Enhancers	K562	blood
30	chr2:38853400-38853800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr2:38853400-38853800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr2:38853400-38853800	Active TSS	Thymus	Thymus
33	chr2:38853400-38854000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr2:38853400-38854000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:38853400-38854000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:38853400-38854200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:38853600-38853800	Flanking Active TSS	K562	blood
38	chr2:38853800-38854000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:38853800-38854000	Flanking Active TSS	Thymus	Thymus
40	chr2:38853800-38854200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:38853800-38854800	Enhancers	K562	blood
42	chr2:38854000-38854600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr2:38854000-38855000	Flanking Active TSS	HepG2	liver
44	chr2:38854000-38855200	Enhancers	Thymus	Thymus
45	chr2:38854000-38855600	Enhancers	Stomach Mucosa	stomach
46	chr2:38854000-38861200	Weak transcription	Primary T cells from cord blood	blood

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