Variant report

Variant	rs73399931
Chromosome Location	chr12:105251571-105251572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1038969	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10778350	0.86[EUR][1000 genomes]
rs11112189	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11834087	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12307301	0.86[EUR][1000 genomes]
rs12320887	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12321404	0.86[EUR][1000 genomes]
rs12579202	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12579469	0.89[ASN][1000 genomes]
rs12579505	0.87[ASN][1000 genomes]
rs12579945	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12580114	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12580128	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12580794	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12581352	0.85[AFR][1000 genomes]
rs12582312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1565814	0.91[AMR][1000 genomes]
rs17036358	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17036429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17036433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036489	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17036545	0.89[ASN][1000 genomes]
rs4369494	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4545639	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57144501	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57685442	0.90[ASN][1000 genomes]
rs59079144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60976244	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61129422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61262317	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61587191	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7301525	0.82[ASN][1000 genomes]
rs7302213	0.86[EUR][1000 genomes]
rs73383408	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73383420	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73383435	0.90[ASN][1000 genomes]
rs73383439	0.86[ASN][1000 genomes]
rs73383441	0.90[ASN][1000 genomes]
rs73383446	0.84[AFR][1000 genomes]
rs73383467	0.89[ASN][1000 genomes]
rs73383473	0.89[ASN][1000 genomes]
rs73394174	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73394185	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73394186	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73396157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73396159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73399912	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73399925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399934	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73399944	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399947	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73399956	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399960	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73399965	0.84[AFR][1000 genomes]
rs73399968	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971315	0.86[EUR][1000 genomes]
rs7971613	0.86[EUR][1000 genomes]
rs7976092	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105220800-105260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:105222000-105258400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:105222000-105258600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:105222200-105258800	Weak transcription	Pancreas	Pancrea
5	chr12:105229000-105259200	Weak transcription	Placenta	Placenta
6	chr12:105233200-105258600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:105236200-105258600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:105237400-105259000	Weak transcription	A549	lung
9	chr12:105238400-105257000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:105238400-105260400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr12:105238400-105280000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:105240600-105252400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:105240600-105258800	Weak transcription	Aorta	Aorta
14	chr12:105243000-105255800	Weak transcription	Colonic Mucosa	Colon
15	chr12:105243800-105265800	Weak transcription	Fetal Stomach	stomach
16	chr12:105246400-105252600	Weak transcription	NHDF-Ad	bronchial
17	chr12:105247000-105252400	Weak transcription	Osteobl	bone
18	chr12:105248000-105269000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:105248800-105259600	Strong transcription	Liver	Liver
20	chr12:105250400-105252200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:105251400-105251800	Weak transcription	Fetal Heart	heart
22	chr12:105251400-105257000	Weak transcription	Left Ventricle	heart

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