Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95104382..95108045-chr1:95108728..95112831,4	K562	blood:

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10782983	0.91[CHB][hapmap]
rs10874869	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10874870	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10874872	0.92[ASN][1000 genomes]
rs11165184	0.91[CHB][hapmap]
rs1341643	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1341644	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2971937	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2996286	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3814018	0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs3885983	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4847325	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs715813	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7537169	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv519997	chr1:95083836-95113417	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1001230	chr1:95085184-95108531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1910	chr1:95100383-95111872	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95095800-95108400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:95099800-95111600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:95100800-95110600	Weak transcription	NH-A	brain
4	chr1:95100800-95112000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:95101400-95107200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:95101400-95107200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:95101400-95108200	Weak transcription	Placenta	Placenta
8	chr1:95102000-95109800	Weak transcription	Pancreas	Pancrea
9	chr1:95102400-95107000	Weak transcription	Stomach Mucosa	stomach
10	chr1:95102400-95109200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:95102600-95111800	Weak transcription	HSMMtube	muscle
12	chr1:95102800-95106800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:95102800-95107200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:95102800-95108400	Weak transcription	Fetal Intestine Small	intestine
15	chr1:95103000-95106800	Weak transcription	HMEC	breast
16	chr1:95103000-95107400	Weak transcription	Lung	lung
17	chr1:95103200-95106800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:95103200-95106800	Weak transcription	NHEK	skin
19	chr1:95103200-95107000	Weak transcription	Hela-S3	cervix
20	chr1:95103200-95111600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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