Variant report

Variant	rs73696521
Chromosome Location	chr8:102867633-102867634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1440256	1.00[ASN][1000 genomes]
rs1440257	1.00[ASN][1000 genomes]
rs1440258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16868551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16868553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58181251	1.00[ASN][1000 genomes]
rs59933698	1.00[ASN][1000 genomes]
rs7000008	1.00[ASN][1000 genomes]
rs73696518	1.00[ASN][1000 genomes]
rs73696522	0.91[AFR][1000 genomes]
rs73696644	1.00[ASN][1000 genomes]
rs7464196	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv518162	chr8:102841031-102893626	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv523850	chr8:102841031-102893626	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1030076	chr8:102866179-102896458	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102803600-102870600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:102862400-102869600	Weak transcription	Left Ventricle	heart
3	chr8:102862600-102868600	Weak transcription	Aorta	Aorta
4	chr8:102862600-102868600	Weak transcription	Ovary	ovary
5	chr8:102862800-102876000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:102865000-102869200	Weak transcription	GM12878-XiMat	blood
7	chr8:102866000-102868400	Enhancers	HMEC	breast
8	chr8:102866400-102868200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:102866400-102868200	Enhancers	NHEK	skin
10	chr8:102866400-102869000	Weak transcription	HSMMtube	muscle
11	chr8:102866600-102869200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:102866600-102870600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:102866600-102876000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:102866800-102870600	Weak transcription	Psoas Muscle	Psoas
15	chr8:102867000-102867800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:102867400-102868200	Weak transcription	Lung	lung
17	chr8:102867400-102868400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:102867400-102872400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:102867600-102868200	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:102867600-102869400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:102867600-102872400	Weak transcription	NHDF-Ad	bronchial

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