Variant report

Variant	rs12681916
Chromosome Location	chr8:107783258-107783259
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11988518	0.87[ASN][1000 genomes]
rs11990338	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11996457	0.96[ASN][1000 genomes]
rs12056528	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12675956	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12676199	0.94[ASN][1000 genomes]
rs12681427	0.90[ASN][1000 genomes]
rs1542644	0.90[ASN][1000 genomes]
rs16875079	0.86[ASN][1000 genomes]
rs1954790	0.90[ASN][1000 genomes]
rs2881423	0.90[ASN][1000 genomes]
rs6469077	0.90[ASN][1000 genomes]
rs6983111	0.90[ASN][1000 genomes]
rs6983210	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7817274	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1032991	chr8:107756661-107819035	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv611846	chr8:107778324-107819368	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107740200-107783800	Weak transcription	Fetal Brain Male	brain
2	chr8:107776000-107785000	Weak transcription	HSMMtube	muscle
3	chr8:107777600-107784600	Weak transcription	HUVEC	blood vessel
4	chr8:107777800-107784000	Weak transcription	Fetal Kidney	kidney
5	chr8:107777800-107785000	Weak transcription	NHLF	lung
6	chr8:107778000-107784600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:107778000-107785000	Weak transcription	Fetal Lung	lung
8	chr8:107778200-107785000	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:107778400-107784800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:107779000-107784200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:107779200-107785000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:107779800-107785000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:107782400-107783600	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:107782600-107783400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:107782600-107784000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:107782600-107785000	Weak transcription	Left Ventricle	heart
17	chr8:107782600-107785000	Weak transcription	Psoas Muscle	Psoas
18	chr8:107782600-107785000	Weak transcription	Right Atrium	heart
19	chr8:107782600-107785000	Weak transcription	Right Ventricle	heart
20	chr8:107783000-107784000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:107783200-107785800	Enhancers	Fetal Heart	heart
22	chr8:107783200-107798400	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links