Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127290201..127292362-chr2:127293377..127296094,2	K562	blood:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10175150	0.82[ASN][1000 genomes]
rs10182007	1.00[ASN][1000 genomes]
rs10194561	0.82[ASN][1000 genomes]
rs10203788	0.82[ASN][1000 genomes]
rs1025789	0.82[ASN][1000 genomes]
rs11885234	0.82[ASN][1000 genomes]
rs13382980	0.92[EUR][1000 genomes]
rs13386710	0.92[EUR][1000 genomes]
rs13413216	0.88[EUR][1000 genomes]
rs13415629	0.92[EUR][1000 genomes]
rs13419397	0.92[EUR][1000 genomes]
rs13425595	0.92[EUR][1000 genomes]
rs1440050	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1550402	0.82[ASN][1000 genomes]
rs56896312	0.92[EUR][1000 genomes]
rs6431080	0.92[EUR][1000 genomes]
rs6431081	0.92[EUR][1000 genomes]
rs6431097	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6727953	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6728481	0.82[ASN][1000 genomes]
rs7590145	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7599320	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7599552	0.92[EUR][1000 genomes]
rs7606965	0.92[EUR][1000 genomes]
rs920438	0.82[ASN][1000 genomes]
rs958916	1.00[ASN][1000 genomes]
rs961447	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	nsv1001995	chr2:126506739-127314488	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127289200-127292800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr2:127290200-127295600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:127290400-127293200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr2:127290600-127291800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:127290800-127295600	Enhancers	Primary hematopoietic stem cells	blood
6	chr2:127291600-127292000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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