Variant report

Variant	rs73399934
Chromosome Location	chr12:105257614-105257615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1038969	0.81[ASN][1000 genomes]
rs10778350	0.86[EUR][1000 genomes]
rs11112189	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11834087	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12307301	0.86[EUR][1000 genomes]
rs12320887	0.86[EUR][1000 genomes]
rs12321404	0.86[EUR][1000 genomes]
rs12579202	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12579469	0.94[ASN][1000 genomes]
rs12579505	0.91[ASN][1000 genomes]
rs12579945	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12580114	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12580128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580794	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12581352	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12582312	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17036358	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17036429	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036433	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036489	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17036545	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4369494	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4545639	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57144501	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57685442	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs59079144	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60976244	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61129422	0.92[ASN][1000 genomes]
rs61262317	0.86[EUR][1000 genomes]
rs61587191	0.86[EUR][1000 genomes]
rs7302213	0.86[EUR][1000 genomes]
rs73383408	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73383420	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73383435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73383439	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73383441	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73383467	0.94[ASN][1000 genomes]
rs73383473	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73383478	0.86[AMR][1000 genomes]
rs73394174	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73394185	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73394186	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73396157	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73396159	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73399912	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73399925	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73399927	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73399929	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73399931	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73399944	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73399947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73399956	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73399960	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73399968	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7971315	0.86[EUR][1000 genomes]
rs7971613	0.86[EUR][1000 genomes]
rs7976092	0.93[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:34 , 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	chr12:105238400-105260400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:105238400-105280000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:105240600-105258800	Weak transcription	Aorta	Aorta
12	chr12:105243800-105265800	Weak transcription	Fetal Stomach	stomach
13	chr12:105248000-105269000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:105248800-105259600	Strong transcription	Liver	Liver
15	chr12:105252200-105259000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:105257000-105257800	Enhancers	NH-A	brain
17	chr12:105257000-105258000	Enhancers	HSMM	muscle
18	chr12:105257000-105258200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:105257000-105258200	Enhancers	NHLF	lung
20	chr12:105257000-105258400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:105257000-105258400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:105257000-105259200	Enhancers	Osteobl	bone
23	chr12:105257000-105259400	Enhancers	Ovary	ovary
24	chr12:105257000-105260000	Enhancers	NHDF-Ad	bronchial
25	chr12:105257000-105260600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:105257000-105260800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:105257000-105260800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr12:105257000-105261400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:105257200-105257800	Weak transcription	Left Ventricle	heart
30	chr12:105257200-105258600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:105257400-105258600	Weak transcription	HMEC	breast
32	chr12:105257400-105258800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:105257600-105260000	Weak transcription	HSMMtube	muscle
34	chr12:105257600-105260400	Enhancers	Hela-S3	cervix

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