Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10774493	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10849649	1.00[ASN][1000 genomes]
rs11064769	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064774	1.00[ASN][1000 genomes]
rs12099460	1.00[ASN][1000 genomes]
rs12306000	1.00[ASN][1000 genomes]
rs12306360	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12306535	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12314123	1.00[ASN][1000 genomes]
rs12708370	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2393547	1.00[ASN][1000 genomes]
rs34161061	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35135358	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35143406	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35785729	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4238064	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4767814	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4767816	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68162769	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7296648	1.00[ASN][1000 genomes]
rs7297109	1.00[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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv899552	chr12:119733874-119814623	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119801000-119803800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:119801000-119803800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:119801200-119807800	Weak transcription	Fetal Heart	heart
4	chr12:119801800-119806200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:119801800-119806600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:119802000-119803600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:119802000-119804000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:119802800-119806400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:119802800-119806400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:119802800-119806400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:119802800-119806600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:119803000-119806600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:119803000-119806800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:119803400-119803800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:119803400-119804600	Enhancers	HepG2	liver

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