Variant report

Variant	rs72729586
Chromosome Location	chr1:95107886-95107887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12132926	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1361868	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4847321	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4847322	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55923008	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66472521	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6694645	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72729587	0.86[AMR][1000 genomes];0.98[EUR][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:28 , 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	chr1:95101400-95108200	Weak transcription	Placenta	Placenta
6	chr1:95102000-95109800	Weak transcription	Pancreas	Pancrea
7	chr1:95102400-95109200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:95102600-95111800	Weak transcription	HSMMtube	muscle
9	chr1:95102800-95108400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:95103200-95111600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:95106800-95108600	Enhancers	HMEC	breast
12	chr1:95106800-95108800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:95106800-95114200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:95107000-95108600	Enhancers	Small Intestine	intestine
15	chr1:95107000-95108600	Enhancers	Stomach Mucosa	stomach
16	chr1:95107000-95112000	Enhancers	Hela-S3	cervix
17	chr1:95107200-95108400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:95107200-95108800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:95107200-95110400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:95107200-95110600	Enhancers	Duodenum Mucosa	Duodenum
21	chr1:95107400-95108000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr1:95107400-95108400	Enhancers	Left Ventricle	heart
23	chr1:95107400-95110600	Enhancers	Fetal Intestine Large	intestine
24	chr1:95107600-95108200	Weak transcription	Lung	lung
25	chr1:95107800-95108000	Enhancers	Colonic Mucosa	Colon
26	chr1:95107800-95108200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:95107800-95108400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:95107800-95109400	Weak transcription	NHEK	skin

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