Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4671964..4676370-chr6:4676405..4678296,5	K562	blood:
2	chr6:4669229..4672483-chr6:4677301..4680282,4	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11964064	0.84[EUR][1000 genomes]
rs12198676	1.00[ASN][1000 genomes]
rs12201817	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12201861	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12213814	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1971444	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1971445	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2063677	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2063678	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2073042	0.99[EUR][1000 genomes]
rs2281275	0.99[EUR][1000 genomes]
rs379650	1.00[ASN][1000 genomes]
rs392108	1.00[ASN][1000 genomes]
rs443430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67325872	0.97[EUR][1000 genomes]
rs6918242	0.99[EUR][1000 genomes]
rs72819438	0.90[EUR][1000 genomes]
rs742570	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7768553	1.00[ASN][1000 genomes]
rs9328267	0.97[EUR][1000 genomes]
rs9378408	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9392619	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9405760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv528627	chr6:4614058-4731340	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv883416	chr6:4666878-4690760	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 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	chr6:4665000-4680400	Weak transcription	Right Atrium	heart
2	chr6:4666600-4672400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:4668200-4675000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:4669000-4672400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:4669000-4695600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:4669200-4672600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:4669400-4672400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:4669400-4677600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:4671400-4673200	Weak transcription	HSMMtube	muscle
10	chr6:4671800-4673200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:4672000-4672800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:4672200-4673200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:4672200-4673800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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