Variant report

Variant	rs57967706
Chromosome Location	chr12:29421959-29421960
allele	C/T
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:18)

rs_ID	r²[population]
rs56224606	0.87[AFR][1000 genomes]
rs58244411	0.87[AFR][1000 genomes]
rs58552561	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59173481	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59368526	0.95[AFR][1000 genomes]
rs59442924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60044892	0.95[AFR][1000 genomes]
rs60675725	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60697326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61447708	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7342354	0.92[AFR][1000 genomes]
rs74076684	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076962	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74077152	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078140	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078141	0.90[AFR][1000 genomes]
rs74078380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078381	1.00[AFR][1000 genomes];1.00[AMR][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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29408200-29423200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:29408200-29425800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:29408400-29424000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr12:29410000-29425800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:29410000-29426200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:29414000-29423400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:29414200-29422800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:29414400-29434000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:29417200-29465400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:29417800-29424400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:29418600-29423400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:29419200-29430600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:29419600-29428000	Weak transcription	Fetal Brain Female	brain
14	chr12:29419800-29430400	Weak transcription	Brain Angular Gyrus	brain
15	chr12:29420400-29435000	Weak transcription	HUVEC	blood vessel
16	chr12:29420600-29423000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:29420600-29431600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:29421000-29423400	Weak transcription	Primary T cells from cord blood	blood
19	chr12:29421000-29424400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:29421000-29425000	Weak transcription	Esophagus	oesophagus
21	chr12:29421000-29432000	Weak transcription	Adipose Nuclei	Adipose
22	chr12:29421200-29422800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:29421200-29426600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:29421400-29423400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:29421400-29425800	Weak transcription	Lung	lung
26	chr12:29421600-29422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:29421600-29422800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:29421600-29423400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:29421600-29426000	Weak transcription	Fetal Intestine Small	intestine
30	chr12:29421600-29426200	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:29421800-29423200	Weak transcription	Dnd41	blood
32	chr12:29421800-29425800	Weak transcription	Spleen	Spleen
33	chr12:29421800-29426200	Weak transcription	Fetal Muscle Trunk	muscle

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