Variant report

Variant	rs6414124
Chromosome Location	chr2:190167593-190167594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10191420	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11884504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12468002	0.83[ASN][1000 genomes]
rs12473931	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12476438	0.86[ASN][1000 genomes]
rs1515868	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2090295	0.83[ASN][1000 genomes]
rs4667262	0.86[YRI][hapmap]
rs60251658	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6723725	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7560722	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190159800-190170800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:190160000-190170400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:190160000-190171000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:190160200-190171200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr2:190162600-190171600	Enhancers	Primary T cells from cord blood	blood
6	chr2:190163000-190171800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:190163400-190169200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:190163400-190170800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:190163600-190169200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:190163600-190170200	Weak transcription	NHDF-Ad	bronchial
11	chr2:190165200-190169400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:190165800-190168000	Enhancers	Dnd41	blood
13	chr2:190165800-190171200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:190165800-190171400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:190166000-190168600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:190166200-190171800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:190166400-190168400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:190166400-190169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:190166800-190167600	Enhancers	A549	lung
20	chr2:190166800-190168000	Enhancers	HMEC	breast
21	chr2:190166800-190168000	Enhancers	NHEK	skin
22	chr2:190167000-190167800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr2:190167000-190168000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:190167000-190168000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:190167000-190168200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:190167000-190169400	Enhancers	Thymus	Thymus
27	chr2:190167000-190170200	Enhancers	Fetal Thymus	thymus
28	chr2:190167200-190167600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:190167200-190171000	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links