Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182716953..182719682-chr2:182723057..182725244,2	K562	blood:
2	chr2:182713642..182716430-chr2:182718168..182720643,2	K562	blood:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10183937	0.88[JPT][hapmap]
rs10803953	0.85[JPT][hapmap]
rs11891680	0.85[ASN][1000 genomes]
rs11898530	0.90[ASN][1000 genomes]
rs11902326	0.87[ASN][1000 genomes]
rs12612058	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12616753	1.00[YRI][hapmap]
rs12616757	1.00[YRI][hapmap]
rs12620901	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12622894	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13387144	0.88[ASN][1000 genomes]
rs13419200	0.87[GIH][hapmap];1.00[MEX][hapmap]
rs1427333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867491	1.00[YRI][hapmap]
rs16867495	1.00[YRI][hapmap]
rs16867502	0.88[JPT][hapmap];0.82[AMR][1000 genomes]
rs16867503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867504	0.88[JPT][hapmap];0.82[AMR][1000 genomes]
rs1991374	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4018749	0.88[JPT][hapmap]
rs4597474	0.85[CHD][hapmap]
rs57000426	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57971040	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59956987	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61246630	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6720578	0.88[ASN][1000 genomes]
rs7567399	0.88[ASN][1000 genomes]
rs7567560	0.88[ASN][1000 genomes]
rs7581484	0.88[ASN][1000 genomes]
rs7584725	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182714000-182719400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:182714600-182719400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:182715200-182719400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:182715200-182719600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:182716400-182719400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:182718400-182723800	Weak transcription	Pancreas	Pancrea
7	chr2:182719000-182720200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:182719200-182721800	Weak transcription	Hela-S3	cervix

Quick Search: