Variant report

Variant	rs17094988
Chromosome Location	chr12:45157174-45157175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10880664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11182546	1.00[CHB][hapmap]
rs11182547	1.00[CHB][hapmap]
rs11182553	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182555	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182558	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182561	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182566	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182568	1.00[JPT][hapmap]
rs11182570	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182571	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182574	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182575	1.00[JPT][hapmap]
rs11182576	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182587	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182593	1.00[JPT][hapmap]
rs11182600	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182602	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182605	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182606	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182609	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182610	1.00[CHB][hapmap]
rs11182611	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182613	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182614	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182615	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182616	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182619	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11182620	0.86[ASN][1000 genomes]
rs11182623	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11182624	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11182625	0.91[ASN][1000 genomes]
rs11182626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11182629	0.95[ASN][1000 genomes]
rs11182632	0.95[ASN][1000 genomes]
rs11182637	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182638	1.00[ASN][1000 genomes]
rs11182641	0.91[ASN][1000 genomes]
rs11182642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182644	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182646	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182650	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182652	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182653	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12227198	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12227809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12228891	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12229463	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1452886	1.00[JPT][hapmap]
rs17094809	1.00[AMR][1000 genomes]
rs17094817	1.00[AMR][1000 genomes]
rs17094822	1.00[AMR][1000 genomes]
rs17094832	1.00[AMR][1000 genomes]
rs17094847	1.00[AMR][1000 genomes]
rs17595910	1.00[AMR][1000 genomes]
rs6582510	1.00[JPT][hapmap]
rs6582511	1.00[JPT][hapmap]
rs7961698	1.00[JPT][hapmap]
rs7965452	1.00[AMR][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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