Variant report

Variant	rs11050237
Chromosome Location	chr12:29608361-29608362
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10161540	0.91[EUR][1000 genomes]
rs10219521	0.91[EUR][1000 genomes]
rs10219541	0.91[EUR][1000 genomes]
rs11050231	0.91[EUR][1000 genomes]
rs11050232	0.86[EUR][1000 genomes]
rs11050234	1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs11050242	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050243	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050247	1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11609415	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610542	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[ASN][1000 genomes]
rs11610605	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11611065	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611499	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614232	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[ASN][1000 genomes]
rs11614288	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614744	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11829375	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11831164	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11831165	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11838057	0.91[EUR][1000 genomes]
rs1369899	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1436314	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2042512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2288127	0.88[CHB][hapmap]
rs2350531	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28560462	1.00[ASN][1000 genomes]
rs34137040	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35198374	1.00[ASN][1000 genomes]
rs35494573	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3741751	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3764951	0.88[CHB][hapmap]
rs3782512	0.86[CHB][hapmap]
rs4280037	0.86[CHB][hapmap]
rs56179940	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56241141	1.00[ASN][1000 genomes]
rs56808425	0.90[EUR][1000 genomes]
rs58171188	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58359809	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59273552	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487826	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487827	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[ASN][1000 genomes]
rs7138160	0.86[CHB][hapmap]
rs7138552	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294517	0.88[CHB][hapmap]
rs7295922	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs7296302	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297234	1.00[ASN][1000 genomes]
rs7297659	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7301354	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7302425	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[EUR][1000 genomes]
rs7302549	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[ASN][1000 genomes]
rs7302700	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306407	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7309876	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs7311051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311329	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7312547	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[ASN][1000 genomes]
rs7312776	0.82[ASN][1000 genomes]
rs7313103	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7313307	1.00[ASN][1000 genomes]
rs73276833	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73276902	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73278706	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73278726	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73278734	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73278736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73278740	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7489238	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953181	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953237	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7954043	0.91[EUR][1000 genomes]
rs7963197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7964648	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964728	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7964979	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7965132	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7965185	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7975356	1.00[CEU][hapmap];0.88[CHB][hapmap];0.98[EUR][1000 genomes]
rs7977826	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7978026	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs878837	1.00[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs880267	0.82[AMR][1000 genomes];1.00[EUR][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	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv898952	chr12:29565537-29617550	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29581800-29613600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
4	chr12:29594200-29614000	Weak transcription	Left Ventricle	heart
5	chr12:29598400-29657400	Weak transcription	HSMM	muscle
6	chr12:29600000-29639800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas
8	chr12:29604200-29655400	Weak transcription	Adipose Nuclei	Adipose
9	chr12:29605000-29613600	Weak transcription	HSMMtube	muscle
10	chr12:29607200-29608400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr12:29607200-29609800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:29607600-29608400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:29607600-29609200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:29607800-29608800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:29608000-29608400	Enhancers	Brain Hippocampus Middle	brain
16	chr12:29608000-29608600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:29608000-29608600	Weak transcription	Brain Substantia Nigra	brain
18	chr12:29608000-29609000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:29608000-29609000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:29608200-29608400	Enhancers	Pancreas	Pancrea
21	chr12:29608200-29622000	Weak transcription	Brain Anterior Caudate	brain

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