Variant report

Variant	rs12813393
Chromosome Location	chr12:45213140-45213141
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11609078	0.93[EUR][1000 genomes]
rs11612170	0.87[EUR][1000 genomes]
rs11612586	0.87[EUR][1000 genomes]
rs11613494	0.82[EUR][1000 genomes]
rs12811488	0.89[EUR][1000 genomes]
rs12816104	0.96[EUR][1000 genomes]
rs12816234	0.82[EUR][1000 genomes]
rs12816596	0.93[EUR][1000 genomes]
rs1605295	0.93[EUR][1000 genomes]
rs17598279	0.89[EUR][1000 genomes]
rs35374916	0.93[EUR][1000 genomes]
rs71459269	0.93[EUR][1000 genomes]
rs71459270	0.91[EUR][1000 genomes]
rs71459276	0.87[EUR][1000 genomes]
rs71459279	0.89[EUR][1000 genomes]
rs71459290	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	esv3354743	chr12:45210585-45214783	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45207000-45220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:45208000-45213400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:45208000-45215800	Enhancers	Primary T cells from cord blood	blood
4	chr12:45208400-45213200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:45210000-45213200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:45211000-45213400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:45211400-45213200	Weak transcription	Fetal Brain Female	brain
8	chr12:45211600-45227400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:45211800-45213200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:45211800-45213400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:45211800-45213400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:45211800-45224600	Weak transcription	Fetal Intestine Small	intestine
13	chr12:45212000-45213200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:45212000-45213400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:45212400-45213200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:45213000-45214000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:45213000-45218200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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