Variant report

Variant	rs697854
Chromosome Location	chr12:121184931-121184932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10774566	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11065223	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17847	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1814851	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2239760	0.81[EUR][1000 genomes]
rs3829290	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3914	0.83[EUR][1000 genomes]
rs3915	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs548093	0.87[EUR][1000 genomes]
rs555404	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs556001	0.87[EUR][1000 genomes]
rs575437	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6490300	0.81[AMR][1000 genomes]
rs658521	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs695948	0.87[EUR][1000 genomes]
rs695949	0.90[EUR][1000 genomes]
rs695952	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs696337	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs696339	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs696340	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs708783	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7308648	0.90[EUR][1000 genomes]
rs7312316	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7976497	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121177600-121186000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:121177600-121186200	Weak transcription	Left Ventricle	heart
4	chr12:121177800-121186000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:121177800-121186000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:121177800-121186200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:121177800-121197800	Weak transcription	Gastric	stomach
8	chr12:121178000-121186000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:121178200-121186200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:121178400-121185800	Weak transcription	Colonic Mucosa	Colon
12	chr12:121178800-121186000	Weak transcription	Right Ventricle	heart
13	chr12:121179800-121185600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:121179800-121185600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
16	chr12:121180200-121185400	Weak transcription	Fetal Intestine Large	intestine
17	chr12:121180200-121197400	Weak transcription	Pancreas	Pancrea
18	chr12:121180600-121185200	Weak transcription	HepG2	liver
19	chr12:121183200-121197600	Weak transcription	Esophagus	oesophagus
20	chr12:121183600-121185400	Weak transcription	Fetal Intestine Small	intestine
21	chr12:121184600-121185600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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