Variant report

Variant	rs7425383
Chromosome Location	chr2:190168806-190168807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190162947..190164456-chr2:190167621..190170079,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10166385	0.89[EUR][1000 genomes]
rs10167242	0.95[EUR][1000 genomes]
rs10172607	0.89[EUR][1000 genomes]
rs10173224	0.89[EUR][1000 genomes]
rs10175108	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10184895	0.90[EUR][1000 genomes]
rs10188246	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198663	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10207812	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs10210634	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10804029	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931401	0.90[JPT][hapmap];0.89[YRI][hapmap]
rs10931403	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10931405	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10931411	0.85[ASN][1000 genomes]
rs10931417	0.85[ASN][1000 genomes]
rs11676905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677167	0.85[ASN][1000 genomes]
rs11678414	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs12474942	0.89[EUR][1000 genomes]
rs12613903	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs12621657	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12693539	0.80[ASN][1000 genomes]
rs12994482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015207	0.80[ASN][1000 genomes]
rs13018252	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13035381	0.85[ASN][1000 genomes]
rs13408928	0.89[EUR][1000 genomes]
rs13411992	0.89[EUR][1000 genomes]
rs13413518	0.89[EUR][1000 genomes]
rs1356976	0.84[ASN][1000 genomes]
rs1464135	0.90[JPT][hapmap]
rs1474000	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1520854	0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1520856	0.84[ASN][1000 genomes]
rs1520858	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1595749	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1851104	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1866605	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1992295	0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2351632	0.89[EUR][1000 genomes]
rs2351635	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2351932	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2351934	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs2683012	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4580411	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4667268	0.93[JPT][hapmap]
rs4667270	0.89[EUR][1000 genomes]
rs4667275	0.87[ASN][1000 genomes]
rs4667280	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4667284	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs6434334	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6434337	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434340	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6434342	0.84[ASN][1000 genomes]
rs6434343	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6704568	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6738193	0.80[ASN][1000 genomes]
rs6747222	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs6752545	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6761868	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7422875	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556928	0.85[ASN][1000 genomes]
rs7566093	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7574281	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7574403	0.80[ASN][1000 genomes]
rs7603704	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8179541	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs8179732	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs939158	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9677436	0.81[EUR][1000 genomes];0.85[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	chr2:190165800-190171200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:190165800-190171400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:190166200-190171800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:190166400-190169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:190167000-190169400	Enhancers	Thymus	Thymus
17	chr2:190167000-190170200	Enhancers	Fetal Thymus	thymus
18	chr2:190167200-190171000	Weak transcription	Stomach Mucosa	stomach
19	chr2:190167600-190169200	Weak transcription	A549	lung
20	chr2:190167800-190169000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:190168000-190169000	Weak transcription	Dnd41	blood
22	chr2:190168000-190169800	Weak transcription	HMEC	breast
23	chr2:190168000-190170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:190168000-190170000	Weak transcription	NHEK	skin
25	chr2:190168000-190170200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:190168200-190170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:190168400-190170000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr2:190168400-190176200	Weak transcription	Pancreas	Pancrea
29	chr2:190168600-190170000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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