Variant report

Variant	rs11834972
Chromosome Location	chr12:29375817-29375818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr12:29375680-29375947	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
FAR2	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11050001	1.00[EUR][1000 genomes]
rs11050015	1.00[EUR][1000 genomes]
rs11050022	1.00[EUR][1000 genomes]
rs11050023	1.00[EUR][1000 genomes]
rs11050031	1.00[EUR][1000 genomes]
rs11050102	1.00[EUR][1000 genomes]
rs11050109	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11050127	1.00[EUR][1000 genomes]
rs11050130	1.00[EUR][1000 genomes]
rs11050131	1.00[EUR][1000 genomes]
rs11050138	1.00[CEU][hapmap]
rs12298807	1.00[EUR][1000 genomes]
rs12299296	1.00[EUR][1000 genomes]
rs12302693	1.00[EUR][1000 genomes]
rs12305640	1.00[EUR][1000 genomes]
rs12305958	1.00[EUR][1000 genomes]
rs12306317	1.00[EUR][1000 genomes]
rs12308307	1.00[EUR][1000 genomes]
rs12309725	1.00[EUR][1000 genomes]
rs12311253	1.00[EUR][1000 genomes]
rs12313631	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12314772	1.00[EUR][1000 genomes]
rs12315253	1.00[EUR][1000 genomes]
rs12315255	1.00[EUR][1000 genomes]
rs12316813	1.00[EUR][1000 genomes]
rs12318343	1.00[EUR][1000 genomes]
rs12319491	1.00[EUR][1000 genomes]
rs12319600	1.00[CEU][hapmap]
rs12319668	1.00[EUR][1000 genomes]
rs12322477	1.00[EUR][1000 genomes]
rs56235020	1.00[EUR][1000 genomes]
rs59858313	1.00[EUR][1000 genomes]
rs67200761	1.00[EUR][1000 genomes]
rs73061899	1.00[EUR][1000 genomes]
rs73063608	1.00[EUR][1000 genomes]
rs73063634	1.00[EUR][1000 genomes]
rs73063636	1.00[EUR][1000 genomes]
rs73063639	1.00[EUR][1000 genomes]
rs73063778	1.00[EUR][1000 genomes]
rs73063781	1.00[EUR][1000 genomes]
rs73063782	1.00[EUR][1000 genomes]
rs73063783	1.00[EUR][1000 genomes]
rs73065614	1.00[EUR][1000 genomes]
rs73065622	1.00[EUR][1000 genomes]
rs73065637	1.00[EUR][1000 genomes]
rs73067717	1.00[EUR][1000 genomes]
rs73067752	1.00[EUR][1000 genomes]
rs73071945	1.00[EUR][1000 genomes]
rs73071951	1.00[EUR][1000 genomes]
rs73071976	1.00[EUR][1000 genomes]
rs73071996	1.00[EUR][1000 genomes]
rs73073756	1.00[EUR][1000 genomes]
rs73073757	1.00[EUR][1000 genomes]
rs73073797	1.00[EUR][1000 genomes]
rs73073798	1.00[EUR][1000 genomes]
rs73075593	1.00[EUR][1000 genomes]
rs73077508	1.00[EUR][1000 genomes]
rs73077524	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077528	1.00[EUR][1000 genomes]
rs73077530	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077591	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73077595	0.85[AMR][1000 genomes]
rs73077598	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73079508	1.00[EUR][1000 genomes]
rs73079510	1.00[EUR][1000 genomes]
rs73079530	1.00[EUR][1000 genomes]
rs7966961	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7980369	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr12:29360400-29381000	Weak transcription	HUVEC	blood vessel
2	chr12:29363800-29377800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:29365600-29378600	Weak transcription	Small Intestine	intestine
4	chr12:29366200-29393200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:29370600-29376000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:29370600-29376400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:29370600-29376800	Weak transcription	NHDF-Ad	bronchial
8	chr12:29370800-29376800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:29371000-29376000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:29373200-29377800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:29374200-29378400	Weak transcription	Fetal Intestine Small	intestine
12	chr12:29374400-29377600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:29374400-29378600	Weak transcription	Fetal Intestine Large	intestine
14	chr12:29374400-29380200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:29374800-29382800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:29375200-29376600	Weak transcription	Placenta	Placenta
17	chr12:29375200-29381000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:29375600-29376400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:29375800-29376400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:29375800-29377000	Enhancers	Primary monocytes fromperipheralblood	blood

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