Variant report

Variant	rs72728301
Chromosome Location	chr8:131739876-131739877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10094193	0.81[ASN][1000 genomes]
rs10101684	0.82[ASN][1000 genomes]
rs1509845	0.86[ASN][1000 genomes]
rs1509846	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1553792	0.86[ASN][1000 genomes]
rs17222937	0.84[ASN][1000 genomes]
rs17314117	0.86[ASN][1000 genomes]
rs28692725	0.86[ASN][1000 genomes]
rs4628270	0.86[ASN][1000 genomes]
rs4736578	0.85[ASN][1000 genomes]
rs6991517	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72728277	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72728279	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72728282	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72730022	0.81[AMR][1000 genomes]
rs72730024	0.86[AMR][1000 genomes]
rs9650110	0.86[ASN][1000 genomes]
rs969963	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs978494	0.86[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	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915864	chr8:131509799-131754822	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv831462	chr8:131704119-131895793	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131739200-131740200	Enhancers	Adipose Nuclei	Adipose
2	chr8:131739200-131740400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:131739200-131740600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:131739200-131740600	Flanking Active TSS	A549	lung
5	chr8:131739200-131740800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:131739200-131740800	Enhancers	HSMM	muscle
7	chr8:131739200-131741000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:131739200-131741200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:131739200-131741400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:131739200-131741400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:131739200-131741400	Enhancers	HMEC	breast
12	chr8:131739400-131740000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:131739400-131740000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:131739400-131740000	Flanking Active TSS	Hela-S3	cervix
15	chr8:131739400-131740000	Flanking Active TSS	HSMMtube	muscle
16	chr8:131739400-131740000	Enhancers	K562	blood
17	chr8:131739400-131740200	Enhancers	Brain Hippocampus Middle	brain
18	chr8:131739400-131740200	Flanking Active TSS	NHDF-Ad	bronchial
19	chr8:131739400-131740400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:131739400-131740400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr8:131739400-131740400	Flanking Active TSS	HUVEC	blood vessel
22	chr8:131739400-131740400	Flanking Active TSS	Osteobl	bone
23	chr8:131739400-131741400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:131739600-131740000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:131739600-131740000	Enhancers	Fetal Muscle Leg	muscle
26	chr8:131739600-131740000	Enhancers	Left Ventricle	heart
27	chr8:131739600-131740000	Enhancers	Pancreas	Pancrea
28	chr8:131739600-131740000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr8:131739600-131740000	Flanking Active TSS	NHEK	skin
30	chr8:131739800-131740000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
31	chr8:131739800-131740000	Flanking Active TSS	NH-A	brain
32	chr8:131739800-131740000	Flanking Active TSS	NHLF	lung

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