Variant report

Variant	rs73267582
Chromosome Location	chr8:86263042-86263043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10110158	0.82[EUR][1000 genomes]
rs16913878	0.82[EUR][1000 genomes]
rs61734485	0.82[EUR][1000 genomes]
rs73267585	0.82[AFR][1000 genomes]
rs73267599	0.82[AFR][1000 genomes]
rs73269603	0.87[AFR][1000 genomes]
rs7813184	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833798	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS 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 target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86244800-86263600	Weak transcription	Fetal Intestine Large	intestine
2	chr8:86257600-86264400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:86259400-86263600	Weak transcription	Fetal Intestine Small	intestine
4	chr8:86260000-86263200	Weak transcription	Left Ventricle	heart
5	chr8:86261600-86265400	Enhancers	Fetal Lung	lung
6	chr8:86261800-86263200	Enhancers	Psoas Muscle	Psoas
7	chr8:86261800-86263600	Enhancers	Ovary	ovary
8	chr8:86261800-86265200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:86261800-86265400	Enhancers	Adipose Nuclei	Adipose
10	chr8:86262000-86264600	Weak transcription	Esophagus	oesophagus
11	chr8:86262000-86266800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:86262200-86263400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:86262400-86263400	Enhancers	Fetal Heart	heart
14	chr8:86262400-86263600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:86262400-86265400	Enhancers	Fetal Muscle Leg	muscle
16	chr8:86262600-86263400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:86262600-86263400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:86262600-86263600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr8:86262600-86267400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:86262800-86263200	Enhancers	Brain Anterior Caudate	brain
21	chr8:86262800-86263600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:86263000-86263200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr8:86263000-86263400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr8:86263000-86264200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:86263000-86264200	Enhancers	Rectal Mucosa Donor 31	rectum

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