Variant report

Variant	rs3816923
Chromosome Location	chr12:105239948-105239949
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10507186	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs10507187	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs10507188	0.88[CHB][hapmap]
rs11112193	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112194	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112195	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112196	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112203	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12300375	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12309588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12310726	1.00[CEU][hapmap]
rs17036293	1.00[CEU][hapmap]
rs17036439	0.86[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs17036463	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs17036494	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs17036505	0.88[CHB][hapmap]
rs17036509	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs17036534	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs17036542	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs17036549	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs17041531	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs3812795	0.88[CHB][hapmap]
rs4077312	0.88[CHB][hapmap]
rs57066817	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58206824	1.00[EUR][1000 genomes]
rs61046283	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7307668	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7308434	1.00[EUR][1000 genomes]
rs7960343	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7970504	0.86[CHB][hapmap]
rs7971575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974895	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.98[ASN][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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899497	chr12:105155291-105247010	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105219800-105240800	Weak transcription	Gastric	stomach
2	chr12:105220800-105260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:105222000-105258400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:105222000-105258600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:105222200-105258800	Weak transcription	Pancreas	Pancrea
6	chr12:105229000-105259200	Weak transcription	Placenta	Placenta
7	chr12:105233200-105258600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:105236000-105240800	Strong transcription	Liver	Liver
9	chr12:105236200-105258600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:105237400-105259000	Weak transcription	A549	lung
11	chr12:105238000-105240000	Weak transcription	GM12878-XiMat	blood
12	chr12:105238400-105257000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:105238400-105260400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:105238400-105280000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:105239400-105240600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:105239400-105240600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:105239400-105240600	Enhancers	NH-A	brain
18	chr12:105239400-105240800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:105239400-105240800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:105239600-105240000	Enhancers	Aorta	Aorta
21	chr12:105239600-105240600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:105239600-105240600	Enhancers	HSMM	muscle
23	chr12:105239600-105240600	Enhancers	NHDF-Ad	bronchial
24	chr12:105239600-105240600	Flanking Active TSS	Osteobl	bone
25	chr12:105239800-105250400	Weak transcription	Adipose Nuclei	Adipose

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