Variant report

Variant	rs1731423
Chromosome Location	chr12:44278469-44278470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10506231	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1057486	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10736017	0.94[ASN][1000 genomes]
rs10748373	0.91[EUR][1000 genomes]
rs10748378	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785463	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785466	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785468	0.85[EUR][1000 genomes]
rs10785469	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10880573	0.90[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs10880578	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880585	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182273	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs11182275	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs11182280	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs11182290	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs11182293	0.94[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182324	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12298970	0.89[EUR][1000 genomes]
rs12311962	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12314126	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1358705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609548	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1609549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1610291	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1614042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1621279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623667	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1623829	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1675755	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1675756	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675758	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675765	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675767	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675769	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675771	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1675772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1675774	0.94[EUR][1000 genomes]
rs1675776	0.90[EUR][1000 genomes]
rs1675777	0.80[EUR][1000 genomes]
rs1675778	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1675781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1675782	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1675783	0.91[EUR][1000 genomes]
rs1675784	0.91[EUR][1000 genomes]
rs1675785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1675787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675788	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1675789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675790	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1731429	0.98[ASN][1000 genomes]
rs1731430	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731431	0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731438	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1731439	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1731440	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1731442	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1731447	0.91[ASN][1000 genomes]
rs1731448	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1731452	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2219629	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407783	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2447113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447114	0.91[EUR][1000 genomes]
rs2447115	0.91[EUR][1000 genomes]
rs2447116	0.91[EUR][1000 genomes]
rs2614394	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2951435	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2951436	0.91[EUR][1000 genomes]
rs3764004	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs4238089	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4238090	0.94[ASN][1000 genomes]
rs4238091	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4354753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4363674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4469953	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4537822	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4572198	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4572199	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4609659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768049	0.90[EUR][1000 genomes]
rs4768052	0.87[ASN][1000 genomes]
rs4768053	0.93[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768538	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768543	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5019975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6582484	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs7295151	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7305609	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73096934	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7965240	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7965330	0.81[ASN][1000 genomes]
rs7972025	0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
2	chr12:44256400-44285600	Weak transcription	HSMMtube	muscle
3	chr12:44274600-44278600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:44274600-44286000	Weak transcription	Pancreas	Pancrea
5	chr12:44275000-44281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:44276600-44278600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr12:44276800-44278600	Enhancers	Osteobl	bone
8	chr12:44277000-44278600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:44277000-44279600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:44277200-44278600	Enhancers	HMEC	breast
11	chr12:44277600-44278600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:44277800-44278600	Weak transcription	Esophagus	oesophagus
13	chr12:44277800-44279600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:44278200-44279200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:44278200-44279200	Enhancers	Brain Substantia Nigra	brain
16	chr12:44278200-44279200	Enhancers	Fetal Heart	heart
17	chr12:44278200-44279200	Enhancers	Left Ventricle	heart
18	chr12:44278400-44278600	Enhancers	Brain Anterior Caudate	brain
19	chr12:44278400-44279000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:44278400-44279000	Enhancers	Colon Smooth Muscle	Colon
21	chr12:44278400-44279200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:44278400-44279200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:44278400-44279200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:44278400-44279200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:44278400-44279200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:44278400-44279200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:44278400-44279200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:44278400-44279200	Enhancers	Brain Hippocampus Middle	brain
29	chr12:44278400-44279200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr12:44278400-44279800	Enhancers	Brain Angular Gyrus	brain
31	chr12:44278400-44280200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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