Variant report

Variant	rs12467323
Chromosome Location	chr2:179783696-179783697
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12476741	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12477346	0.82[CHB][hapmap]
rs12992846	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13014078	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13021413	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17362581	0.80[CEU][hapmap]
rs34259102	0.82[AFR][1000 genomes]
rs34438177	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62177302	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62177303	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6709708	0.80[CEU][hapmap]
rs6731864	0.82[CHB][hapmap]
rs6747791	1.00[CHB][hapmap]
rs6752223	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6760910	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73041940	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7564756	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7601902	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[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	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv583756	chr2:179758007-179843612	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1000545	chr2:179768359-179843612	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv875456	chr2:179775893-179896787	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr2:179749800-179785200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:179770000-179788600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:179770000-179848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:179770200-179789200	Weak transcription	Primary B cells from cord blood	blood
6	chr2:179775600-179824200	Weak transcription	Left Ventricle	heart
7	chr2:179775600-179826400	Weak transcription	Pancreas	Pancrea
8	chr2:179779400-179787600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:179779400-179789400	Weak transcription	Psoas Muscle	Psoas
10	chr2:179779600-179785400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:179779800-179784000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:179779800-179784000	Weak transcription	Thymus	Thymus
13	chr2:179780800-179784000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:179782200-179785800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:179783000-179784600	Enhancers	Fetal Heart	heart
16	chr2:179783000-179802400	Weak transcription	HSMMtube	muscle
17	chr2:179783600-179785800	Weak transcription	Primary T cells from cord blood	blood
18	chr2:179783600-179789800	Weak transcription	Fetal Muscle Leg	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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