Variant report

Variant	rs17128701
Chromosome Location	chr12:41125860-41125861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11832147	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834010	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836043	1.00[CHB][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11837062	0.83[EUR][1000 genomes]
rs11837294	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12318461	1.00[EUR][1000 genomes]
rs1584091	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1596509	1.00[JPT][hapmap]
rs1596514	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1596539	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17120927	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17120936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17128669	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128670	1.00[ASN][1000 genomes]
rs17128674	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128676	1.00[ASN][1000 genomes]
rs17128696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17128710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128725	0.83[ASN][1000 genomes]
rs17128728	1.00[AMR][1000 genomes]
rs17128731	1.00[AMR][1000 genomes]
rs2053630	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4426201	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59257821	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60436538	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581931	1.00[JPT][hapmap]
rs6581932	1.00[EUR][1000 genomes]
rs7132304	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132869	1.00[EUR][1000 genomes]
rs7301307	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965788	1.00[ASN][1000 genomes]
rs7966261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935230	1.00[JPT][hapmap]

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	nsv832378	chr12:40943111-41132305	Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2751098	chr12:41082399-41180235	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1044513	chr12:41091822-41175151	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv558696	chr12:41092666-41172010	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3336471	chr12:41125819-41126262	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41122200-41126200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:41122200-41127600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:41122200-41127800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:41122800-41129600	Weak transcription	A549	lung
5	chr12:41125800-41127400	Enhancers	HUES48 Cell Line	embryonic stem cell

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