Variant report

Variant	rs4768570
Chromosome Location	chr12:45157077-45157078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10506251	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs10506252	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11182568	0.87[CEU][hapmap];0.85[MEX][hapmap]
rs11182575	0.87[CEU][hapmap]
rs11182593	0.87[CEU][hapmap]
rs11182653	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11182655	0.86[ASW][hapmap]
rs11612950	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs11613236	1.00[ASN][1000 genomes]
rs11615599	1.00[ASN][1000 genomes]
rs1452886	0.87[CEU][hapmap]
rs17094881	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs17094886	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs17094892	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs17571971	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17572590	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs17572765	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17574492	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574839	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17575480	1.00[CEU][hapmap];0.93[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649873	1.00[ASN][1000 genomes]
rs17650849	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs17651646	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17652715	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17653092	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17653542	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17654244	1.00[CHB][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs17654558	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17654689	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2408044	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768068	0.87[CEU][hapmap];1.00[ASN][1000 genomes]
rs4768070	1.00[ASN][1000 genomes]
rs4768561	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4768566	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4768574	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6582510	0.87[CEU][hapmap]
rs6582511	0.87[CEU][hapmap]
rs6582512	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7135950	1.00[ASN][1000 genomes]
rs7296595	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305652	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs73278114	0.96[EUR][1000 genomes]
rs73282400	1.00[ASN][1000 genomes]
rs73284070	1.00[ASN][1000 genomes]
rs7955981	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957292	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7961698	0.87[CEU][hapmap]
rs7966845	1.00[ASN][1000 genomes]
rs7967221	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs7974472	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs7976217	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[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	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1049080	chr12:45097564-45195295	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45134400-45165200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:45135400-45175000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:45145000-45172200	Weak transcription	Fetal Brain Female	brain
4	chr12:45145200-45169600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:45146800-45172200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:45147400-45172200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:45151400-45163400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:45151800-45209200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:45153600-45185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:45155800-45165200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:45156000-45157600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:45156000-45159000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:45156000-45159000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:45156000-45173800	Weak transcription	Brain Germinal Matrix	brain
15	chr12:45156200-45157200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr12:45156200-45157400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:45156200-45157600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:45156200-45157600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:45156200-45157800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:45156200-45159000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr12:45156600-45158600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:45156600-45158600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:45157000-45157200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:45157000-45205600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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