Variant report

Variant	nsv967953
Chromosome Location	chr4:151952005-151980912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:151945025..151947080-chr4:151949871..151952141,2	K562	blood:
2	chr4:151951974..151954098-chr4:151957921..151960809,2	K562	blood:
3	chr4:151950794..151952477-chr4:151960049..151962471,2	K562	blood:
4	chr4:151979577..151982207-chr4:151985703..151987237,2	K562	blood:
5	chr4:151973262..151975293-chr4:152020797..152022630,2	MCF-7	breast:
6	chr4:151935286..151937401-chr4:151966290..151969822,4	MCF-7	breast:
7	chr4:151950794..151952477-chr4:151960049..151962471,2	K562	blood:
8	chr4:151977724..151980652-chr4:151983571..151986029,2	MCF-7	breast:
9	chr4:151934388..151939336-chr4:151949312..151960128,17	K562	blood:
10	chr4:151951841..151954397-chr4:151974353..151976877,2	K562	blood:
11	chr4:151935389..151937622-chr4:151962993..151967313,4	MCF-7	breast:
12	chr4:151949743..151954774-chr4:152019052..152025442,10	K562	blood:
13	chr4:151948572..151951286-chr4:151952063..151954538,3	K562	blood:
14	chr4:151955002..151956744-chr4:152027454..152029037,2	MCF-7	breast:
15	chr4:151934245..151939109-chr4:151950920..151958154,15	MCF-7	breast:
16	chr4:151951974..151954098-chr4:151957921..151960809,2	K562	blood:
17	chr4:151933368..151935569-chr4:151963455..151965869,2	K562	blood:
18	chr4:151977495..151979666-chr4:152020018..152022079,2	K562	blood:
19	chr4:151934920..151937567-chr4:151956241..151958618,3	K562	blood:
20	chr4:151951851..151954621-chr4:152019052..152022270,3	K562	blood:
21	chr4:151951841..151954397-chr4:151974353..151976877,2	K562	blood:
22	chr4:151942613..151945033-chr4:151968330..151970068,2	MCF-7	breast:
23	chr4:151948098..151951326-chr4:151954553..151956183,3	K562	blood:
24	chr4:151939961..151943075-chr4:151951185..151954734,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145425	chromatin interactions
ENSG00000201264	chromatin interactions
ENSG00000208797	chromatin interactions
ENSG00000198589	chromatin interactions
ENSG00000235606	chromatin interactions

Extended variants
information (count: 864 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:864 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566842992	chr4:151952064-151952065	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs115187785	chr4:151952132-151952133	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs181586603	chr4:151952166-151952167	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs184632667	chr4:151952211-151952212	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs146680172	chr4:151952215-151952216	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs61006181	chr4:151952236-151952237	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs139192946	chr4:151952258-151952259	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs142569531	chr4:151952295-151952296	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs533297309	chr4:151952318-151952319	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs199816132	chr4:151952326-151952327	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs368029825	chr4:151952354-151952355	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs534211810	chr4:151952450-151952451	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs61465040	chr4:151952510-151952511	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs371670977	chr4:151952512-151952513	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs11367693	chr4:151952539-151952540	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs529102971	chr4:151952543-151952544	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs549119159	chr4:151952599-151952600	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs552674641	chr4:151952661-151952662	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs77852827	chr4:151952673-151952674	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs74941107	chr4:151952717-151952718	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs568873888	chr4:151952772-151952773	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs537917396	chr4:151952773-151952774	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs188608482	chr4:151952777-151952778	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs570894453	chr4:151952781-151952782	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs538399688	chr4:151952792-151952793	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs539784975	chr4:151952854-151952855	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs6535758	chr4:151952872-151952873	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368104930	chr4:151952901-151952902	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs535683188	chr4:151952914-151952915	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs62344627	chr4:151952922-151952923	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs551003694	chr4:151952924-151952925	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs77935291	chr4:151952925-151952926	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs375147271	chr4:151952933-151952934	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs6817611	chr4:151952998-151952999	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575674047	chr4:151953004-151953005	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs536134512	chr4:151953005-151953006	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs544674771	chr4:151953007-151953008	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs564361567	chr4:151953019-151953020	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs181319710	chr4:151953068-151953069	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs540584632	chr4:151953069-151953070	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs185961378	chr4:151953082-151953083	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs529165730	chr4:151953089-151953090	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs548926805	chr4:151953120-151953121	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs140842461	chr4:151953122-151953123	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs554199784	chr4:151953273-151953274	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs531340035	chr4:151953277-151953278	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs72963680	chr4:151953308-151953309	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570957666	chr4:151953392-151953393	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs190826598	chr4:151953407-151953408	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs546949883	chr4:151953474-151953475	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151937800-151967600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:151938200-151967400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:151938200-151969000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:151938400-151967000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:151950200-151953000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:151950800-151952400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr4:151950800-151953000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:151950800-151953200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:151951200-151953000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:151951400-151952800	Enhancers	K562	blood
11	chr4:151951400-151953000	Enhancers	GM12878-XiMat	blood
12	chr4:151951600-151952800	Weak transcription	HUVEC	blood vessel
13	chr4:151951600-151953200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:151952400-151952800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:151952400-151954400	Enhancers	Primary hematopoietic stem cells	blood
16	chr4:151952800-151953000	Enhancers	Hela-S3	cervix
17	chr4:151952800-151953000	Enhancers	HUVEC	blood vessel
18	chr4:151952800-151953000	Enhancers	NH-A	brain
19	chr4:151952800-151953400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr4:151952800-151953800	Flanking Active TSS	K562	blood
21	chr4:151953000-151953200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr4:151953000-151953400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:151953000-151953400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr4:151953000-151953400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr4:151953000-151953400	Flanking Active TSS	Hela-S3	cervix
26	chr4:151953000-151953400	Flanking Active TSS	NH-A	brain
27	chr4:151953000-151953400	Enhancers	NHDF-Ad	bronchial
28	chr4:151953000-151953600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:151953000-151953600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:151953000-151953600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:151953000-151953600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:151953000-151953600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:151953000-151953600	Flanking Active TSS	GM12878-XiMat	blood
34	chr4:151953000-151953600	Enhancers	HMEC	breast
35	chr4:151953000-151953800	Enhancers	Primary B cells from peripheral blood	blood
36	chr4:151953000-151953800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr4:151953000-151953800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:151953000-151953800	Flanking Active TSS	HUVEC	blood vessel
39	chr4:151953000-151953800	Enhancers	NHEK	skin
40	chr4:151953000-151953800	Enhancers	Osteobl	bone
41	chr4:151953000-151954000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr4:151953000-151954200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:151953000-151954200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:151953200-151953400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:151953200-151953400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr4:151953200-151953400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:151953200-151953400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr4:151953200-151953600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr4:151953200-151953600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:151953200-151953600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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