Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94886893..94893129-chr5:94964551..94970811,6	K562	blood:

Variant related genes	Relation type
ENSG00000164291	Chromatin interaction
ENSG00000198677	Chromatin interaction

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

rs_ID	r²[population]
rs10063774	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10075777	0.87[AFR][1000 genomes]
rs13166682	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13172592	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs150548	0.90[ASN][1000 genomes]
rs150549	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs150550	0.90[ASN][1000 genomes]
rs213507	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs213508	0.96[ASN][1000 genomes]
rs213509	0.96[ASN][1000 genomes]
rs213510	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs213511	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs213512	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs213880	0.90[ASN][1000 genomes]
rs213885	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs213887	0.96[ASN][1000 genomes]
rs213888	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs411817	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs412026	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs440342	0.97[ASN][1000 genomes]
rs4869245	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6865873	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6890832	0.81[EUR][1000 genomes];0.97[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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94957800-94967200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:94958200-94967200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:94959800-94967800	Weak transcription	Pancreas	Pancrea
4	chr5:94960000-94967000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:94960200-94966000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr5:94960600-94966200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:94961000-94966400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:94961000-94966600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:94961200-94966200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:94961400-94967400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:94963400-94965600	Enhancers	Fetal Intestine Small	intestine
12	chr5:94963400-94966400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:94963400-94967200	Enhancers	Fetal Intestine Large	intestine
14	chr5:94964800-94966400	Weak transcription	Small Intestine	intestine
15	chr5:94964800-94967000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:94965000-94965600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:94965400-94966800	Weak transcription	Adipose Nuclei	Adipose

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