Variant report

Variant	rs10221783
Chromosome Location	chr2:178772345-178772346
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178771023..178773697-chr2:178777397..178779735,2	K562	blood:
2	chr2:178771746..178772712-chr2:179279472..179279999,2	MCF-7	breast:
3	chr2:178763789..178767498-chr2:178770691..178773361,4	K562	blood:
4	chr2:178765919..178767498-chr2:178770984..178773004,2	K562	blood:
5	chr2:178770676..178772578-chr2:178773100..178774793,2	MCF-7	breast:

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10164920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10165089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs10168605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10170290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10170607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap]
rs10171247	0.87[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs10171486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10174066	0.86[CEU][hapmap];1.00[YRI][hapmap]
rs10174152	0.92[ASW][hapmap];0.92[LWK][hapmap]
rs10174604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10180052	1.00[CEU][hapmap]
rs10181377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10182833	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10183144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10186239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10189134	1.00[ASW][hapmap];0.87[CEU][hapmap];0.94[GIH][hapmap];0.96[LWK][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10190066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10190805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10191328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10192990	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10193299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10194612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10195497	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10197020	1.00[CEU][hapmap]
rs10197329	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10198681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10198877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10200643	0.87[CEU][hapmap]
rs10202989	0.86[CEU][hapmap]
rs10207459	1.00[CEU][hapmap]
rs10208501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10211057	1.00[CEU][hapmap]
rs10211341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10221806	0.87[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs10497477	0.87[CEU][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap]
rs10497478	0.87[CEU][hapmap]
rs10497481	0.87[CEU][hapmap]
rs10497483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930819	0.87[CEU][hapmap]
rs12151755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693123	0.83[AFR][1000 genomes]
rs12693127	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12693128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693145	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693147	1.00[CEU][hapmap]
rs12988331	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12990471	0.85[CEU][hapmap]
rs12994913	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12995449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13003683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13008170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13008780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13009350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13010993	0.86[AFR][1000 genomes]
rs13015148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13017026	0.85[CEU][hapmap]
rs13021204	0.87[CEU][hapmap]
rs13023049	1.00[CEU][hapmap]
rs13026481	0.86[CEU][hapmap]
rs13028692	0.86[CEU][hapmap]
rs13386418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13386639	0.87[CEU][hapmap]
rs13388218	0.94[AFR][1000 genomes]
rs13389574	0.87[CEU][hapmap];0.83[GIH][hapmap]
rs13390014	0.88[GIH][hapmap];0.85[TSI][hapmap]
rs13392577	0.87[CEU][hapmap]
rs13393722	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs13396207	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13398604	0.92[ASW][hapmap]
rs13400109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13400411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13402629	0.87[CEU][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap]
rs13402636	0.86[CEU][hapmap]
rs13405585	0.87[CEU][hapmap]
rs13410185	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13410486	0.87[CEU][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap]
rs13411527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13411542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13411922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs13411970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13413095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13413731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13419437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13422276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13422706	1.00[CEU][hapmap]
rs13425873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13426862	0.82[CEU][hapmap]
rs13427912	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13428032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13429445	0.87[CEU][hapmap]
rs1358299	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1527291	1.00[JPT][hapmap]
rs16865821	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs16865846	1.00[JPT][hapmap]
rs17329742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17329956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17329998	0.87[CEU][hapmap]
rs17330012	0.87[CEU][hapmap]
rs17330172	0.87[CEU][hapmap]
rs17330290	0.86[CEU][hapmap]
rs17330381	0.86[CEU][hapmap]
rs17401293	1.00[CEU][hapmap]
rs17401468	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.81[TSI][hapmap];0.95[ASN][1000 genomes]
rs17401650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17401671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17401860	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17401902	0.87[CEU][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap]
rs17401916	0.86[CEU][hapmap]
rs17401951	1.00[CEU][hapmap]
rs17402102	0.87[CEU][hapmap]
rs17635803	0.87[CEU][hapmap]
rs17635875	1.00[CEU][hapmap]
rs17635957	0.87[CEU][hapmap]
rs17687170	0.87[CEU][hapmap]
rs17687217	1.00[CEU][hapmap]
rs1898012	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs2043548	0.87[CEU][hapmap]
rs35267683	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35385829	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35625771	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35758079	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3861373	0.86[CEU][hapmap]
rs4377360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4423634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6708449	1.00[JPT][hapmap]
rs6726222	1.00[JPT][hapmap]
rs6726477	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap]
rs6738614	0.83[ASW][hapmap];0.87[CEU][hapmap];0.94[GIH][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs6750238	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs71423515	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71423518	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71423519	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7556748	0.92[ASW][hapmap];0.83[LWK][hapmap]
rs7561059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7575322	0.87[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7600368	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.96[LWK][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs9288011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9989802	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178762600-178772600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:178765800-178774200	Weak transcription	HMEC	breast
3	chr2:178765800-178774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:178766600-178772600	Weak transcription	NHEK	skin
5	chr2:178768000-178773000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:178768200-178774000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:178768600-178773000	Weak transcription	Left Ventricle	heart
8	chr2:178768600-178780000	Weak transcription	Psoas Muscle	Psoas
9	chr2:178770200-178773800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:178770400-178772400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:178770600-178774600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:178771200-178772400	Weak transcription	Fetal Heart	heart
13	chr2:178771200-178774000	Weak transcription	Adipose Nuclei	Adipose
14	chr2:178771600-178772400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:178771600-178772600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:178772200-178773600	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links