Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37601453..37608472-chr6:37609186..37615415,9	K562	blood:
2	chr6:37606812..37609273-chr6:37613389..37615459,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112139	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12195277	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs13198513	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs13204070	0.83[JPT][hapmap]
rs13212859	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs1883899	0.83[CEU][hapmap];0.83[JPT][hapmap]
rs1883900	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs2273109	0.86[EUR][1000 genomes]
rs2273110	0.83[JPT][hapmap]
rs3846873	0.86[EUR][1000 genomes]
rs3846874	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs3846876	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs3846879	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs3857571	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs4236056	0.88[CEU][hapmap]
rs4357132	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs4711509	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs6930085	0.83[JPT][hapmap]
rs7452676	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs7452692	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs7775837	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs804830	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs804831	0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs813079	0.83[JPT][hapmap]
rs9366945	0.83[JPT][hapmap]
rs9394447	0.83[JPT][hapmap]
rs9462343	0.83[JPT][hapmap]

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	esv2752124	chr6:37416219-37680622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37594000-37615400	Weak transcription	Fetal Brain Female	brain
2	chr6:37599200-37615600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:37599200-37621800	Weak transcription	NHLF	lung
4	chr6:37602200-37616600	Weak transcription	Right Atrium	heart
5	chr6:37602800-37616400	Weak transcription	Ovary	ovary
6	chr6:37604200-37614600	Strong transcription	Fetal Stomach	stomach
7	chr6:37606800-37615600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:37611800-37616000	Weak transcription	Gastric	stomach
9	chr6:37612200-37615600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:37612200-37616200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:37612200-37616200	Weak transcription	GM12878-XiMat	blood
12	chr6:37612400-37615400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:37612400-37616200	Weak transcription	HMEC	breast
14	chr6:37612600-37616000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:37612600-37616200	Weak transcription	Left Ventricle	heart
16	chr6:37612600-37619800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:37612800-37616000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:37613400-37616000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:37614200-37615800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:37614200-37621800	Weak transcription	Aorta	Aorta

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