Variant report

Variant	rs12468981
Chromosome Location	chr2:179780247-179780248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12999923	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13012653	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019110	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747791	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:179717000-179790600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:179749800-179785200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:179761200-179782800	Weak transcription	Right Ventricle	heart
5	chr2:179770000-179788600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:179770000-179848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:179770200-179789200	Weak transcription	Primary B cells from cord blood	blood
8	chr2:179771600-179781600	Weak transcription	Lung	lung
9	chr2:179775600-179782400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:179775600-179824200	Weak transcription	Left Ventricle	heart
11	chr2:179775600-179826400	Weak transcription	Pancreas	Pancrea
12	chr2:179776200-179780400	Weak transcription	Primary T cells from cord blood	blood
13	chr2:179776200-179783000	Weak transcription	Fetal Heart	heart
14	chr2:179778000-179782400	Weak transcription	HSMMtube	muscle
15	chr2:179779000-179781400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:179779400-179781600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:179779400-179787600	Weak transcription	Fetal Intestine Small	intestine
18	chr2:179779400-179789400	Weak transcription	Psoas Muscle	Psoas
19	chr2:179779600-179780400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:179779600-179785400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:179779800-179784000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:179779800-179784000	Weak transcription	Thymus	Thymus

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