Variant report

Variant	rs7954069
Chromosome Location	chr12:118976382-118976383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10850988	0.83[AMR][1000 genomes]
rs10850989	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10850990	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10850992	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068983	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12304368	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12307358	0.94[AMR][1000 genomes]
rs12366746	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12366749	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4767685	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57244588	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6490191	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7306583	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7309801	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7315333	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7486459	0.86[AMR][1000 genomes]
rs7967848	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9737979	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9737985	0.94[AMR][1000 genomes]
rs9738728	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9739233	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv899548	chr12:118909907-118987597	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2830233	chr12:118952486-119011469	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1038601	chr12:118958107-119023980	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523621	chr12:118958608-119019143	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv560391	chr12:118958608-119019143	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1038024	chr12:118965736-119014468	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv541614	chr12:118965736-119014468	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118958000-118978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:118971600-118978600	Weak transcription	Right Atrium	heart
3	chr12:118973200-118976400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr12:118974000-118976400	Enhancers	Fetal Heart	heart
5	chr12:118974200-118976800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:118974400-118976800	Weak transcription	Psoas Muscle	Psoas
7	chr12:118974400-118978600	Weak transcription	Right Ventricle	heart
8	chr12:118975400-118976400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:118975400-118976400	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:118975400-118976600	Weak transcription	Aorta	Aorta
11	chr12:118975400-118978600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:118975400-118978600	Weak transcription	Left Ventricle	heart
13	chr12:118975600-118977600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:118975600-118978200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:118975600-118978200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:118975600-118978600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:118975600-118978800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:118975800-118976800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:118976000-118976400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:118976000-118978000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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