Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119520274..119523110-chr12:119524611..119526386,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10775012	0.85[CHB][hapmap]
rs10849622	1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.83[ASN][1000 genomes]
rs11064650	0.88[ASN][1000 genomes]
rs11064652	1.00[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11069219	0.85[CHB][hapmap]
rs11609314	0.85[CHB][hapmap]
rs11610794	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11612123	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs11612183	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs11612863	1.00[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs11614635	0.88[ASN][1000 genomes]
rs12228320	0.85[CHB][hapmap]
rs12305005	0.85[CHB][hapmap];0.88[TSI][hapmap]
rs12305240	0.85[CHB][hapmap];0.88[TSI][hapmap]
rs35126317	0.96[ASN][1000 genomes]
rs4767769	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4767772	1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4767773	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767774	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57961828	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119520600-119526800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:119520800-119526400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:119521000-119526000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:119521000-119535600	Weak transcription	Fetal Brain Female	brain
5	chr12:119521200-119537400	Weak transcription	Brain Germinal Matrix	brain
6	chr12:119525000-119526600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:119525000-119527000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:119525000-119529000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:119525800-119526600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:119525800-119526600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:119525800-119526600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:119525800-119528600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:119525800-119528800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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