Variant report

Variant	rs72939254
Chromosome Location	chr4:143134926-143134927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2130687	0.95[ASN][1000 genomes]
rs2322544	0.87[ASN][1000 genomes]
rs2627801	0.81[ASN][1000 genomes]
rs28673676	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58375747	0.97[ASN][1000 genomes]
rs72939257	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72939266	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72939272	0.81[ASN][1000 genomes]
rs73850818	0.97[ASN][1000 genomes]
rs992256	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830097	chr4:142949705-143136372	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830098	chr4:143050143-143234384	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv595604	chr4:143077401-143228914	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143072000-143137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:143095000-143154200	Weak transcription	Left Ventricle	heart
4	chr4:143112600-143137600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:143114600-143150600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:143116800-143141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:143122600-143143600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:143128800-143135000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:143128800-143157200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:143128800-143158600	Weak transcription	NHDF-Ad	bronchial
11	chr4:143129000-143153400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:143129000-143155200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:143129000-143157200	Weak transcription	Dnd41	blood
14	chr4:143129200-143147400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:143129200-143152200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:143129200-143155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:143129200-143157200	Weak transcription	NHEK	skin
18	chr4:143129200-143169600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:143129600-143139000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:143130200-143157200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:143131600-143152200	Weak transcription	HSMM	muscle
22	chr4:143133200-143137200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:143133400-143135800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:143133600-143135400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:143133600-143157200	Weak transcription	HMEC	breast
26	chr4:143133800-143135600	Strong transcription	Primary T cells from cord blood	blood
27	chr4:143133800-143146200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:143134400-143135200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr4:143134400-143135600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr4:143134400-143136400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:143134600-143135000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr4:143134600-143135400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:143134800-143135400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:143134800-143135600	Strong transcription	HSMMtube	muscle
35	chr4:143134800-143139600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:143134800-143144000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links