Variant report

Variant	rs10861315
Chromosome Location	chr12:105431835-105431836
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10746009	0.92[EUR][1000 genomes]
rs10861314	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861316	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861317	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10861318	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10861319	0.97[EUR][1000 genomes]
rs10861321	0.97[EUR][1000 genomes]
rs10861322	0.97[EUR][1000 genomes]
rs10861323	0.96[EUR][1000 genomes]
rs10861324	0.97[EUR][1000 genomes]
rs10861325	0.97[EUR][1000 genomes]
rs11112330	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112332	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11112333	0.82[AFR][1000 genomes]
rs11112336	0.97[EUR][1000 genomes]
rs12227643	0.99[ASN][1000 genomes]
rs12231561	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12231563	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818323	0.80[ASN][1000 genomes]
rs2228699	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2228700	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34337968	0.80[ASN][1000 genomes]
rs4278585	0.97[EUR][1000 genomes]
rs4310693	0.97[EUR][1000 genomes]
rs4312142	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4412819	0.97[EUR][1000 genomes]
rs4964120	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964314	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964315	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964316	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964319	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4964320	0.99[EUR][1000 genomes]
rs4964321	0.99[EUR][1000 genomes]
rs4964324	0.95[EUR][1000 genomes]
rs4964325	0.96[EUR][1000 genomes]
rs57015503	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6539181	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6539182	0.97[EUR][1000 genomes]
rs7133683	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7133801	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134259	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297999	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7301423	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7301527	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7301544	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7302857	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7313093	0.92[EUR][1000 genomes]
rs7313449	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7313946	0.98[EUR][1000 genomes]
rs7314207	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7315784	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7316236	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7485673	0.92[ASN][1000 genomes]
rs7956169	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105394200-105435000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:105394800-105434200	Weak transcription	Brain Substantia Nigra	brain
3	chr12:105397400-105443200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:105407800-105434400	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:105408000-105434400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:105408000-105434400	Weak transcription	Brain Anterior Caudate	brain
7	chr12:105409200-105446800	Weak transcription	Left Ventricle	heart
8	chr12:105409400-105465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:105410800-105446400	Weak transcription	K562	blood
10	chr12:105412400-105440400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:105413000-105441800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:105413000-105445000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:105413000-105476800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:105413200-105457800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:105414800-105447200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:105414800-105454000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:105415000-105440400	Weak transcription	Gastric	stomach
18	chr12:105418600-105441000	Weak transcription	Pancreas	Pancrea
19	chr12:105419400-105434400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:105420000-105477000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:105420200-105441000	Weak transcription	Fetal Brain Male	brain
22	chr12:105420400-105434600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:105420400-105435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:105420400-105440600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:105420400-105448600	Weak transcription	Ovary	ovary
26	chr12:105420600-105435200	Strong transcription	Osteobl	bone
27	chr12:105420600-105442000	Weak transcription	Fetal Lung	lung
28	chr12:105420600-105442000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:105420600-105447000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:105420800-105434400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:105420800-105442000	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:105421400-105432600	Strong transcription	HSMMtube	muscle
33	chr12:105421400-105433600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:105422600-105442800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:105423200-105459400	Weak transcription	Lung	lung
36	chr12:105423600-105440400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:105425000-105432400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:105425200-105440800	Weak transcription	A549	lung
39	chr12:105425600-105434400	Weak transcription	Fetal Stomach	stomach
40	chr12:105425800-105438200	Weak transcription	Brain Germinal Matrix	brain
41	chr12:105427000-105434800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:105427000-105440400	Weak transcription	Aorta	Aorta
43	chr12:105427400-105434200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:105428200-105433200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:105429600-105440800	Weak transcription	Fetal Brain Female	brain
46	chr12:105430400-105432200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr12:105430400-105432400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:105430400-105432600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr12:105430400-105434400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:105430400-105435800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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