Variant report

Variant	rs12800617
Chromosome Location	chr11:15850555-15850556
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:15850004..15852475-chr11:15853196..15856629,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1009460	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832522	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832523	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11023754	0.83[MEX][hapmap]
rs12226568	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12272146	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12786929	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1348076	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440708	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1440709	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1465893	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1543832	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1837605	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1882129	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1882130	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1882132	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920666	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920667	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1920668	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920669	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920670	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1920671	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920672	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1960710	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165355	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593588	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593589	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593590	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615041	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2615042	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615043	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7101476	0.84[ASN][1000 genomes]
rs7106776	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	nsv832073	chr11:15822409-15984078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr11:15847200-15850600	Enhancers	Brain Germinal Matrix	brain
2	chr11:15847400-15852200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:15847400-15853800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr11:15848000-15850600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr11:15848000-15852800	Enhancers	Brain Hippocampus Middle	brain
6	chr11:15848000-15853400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:15848200-15850600	Enhancers	Brain Substantia Nigra	brain
8	chr11:15848400-15852400	Weak transcription	NH-A	brain
9	chr11:15848400-15853000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:15848600-15850600	Enhancers	Brain Cingulate Gyrus	brain
11	chr11:15848600-15852600	Enhancers	Fetal Lung	lung
12	chr11:15848800-15851600	Weak transcription	Lung	lung
13	chr11:15848800-15852000	Weak transcription	Left Ventricle	heart
14	chr11:15848800-15857600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:15849000-15852200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:15849000-15852600	Enhancers	Brain Anterior Caudate	brain
17	chr11:15849200-15850600	Enhancers	Right Atrium	heart
18	chr11:15849200-15850600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:15849200-15851200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:15849200-15851200	Enhancers	Fetal Muscle Leg	muscle
21	chr11:15849400-15851200	Enhancers	Psoas Muscle	Psoas
22	chr11:15849400-15852400	Weak transcription	Adipose Nuclei	Adipose
23	chr11:15849600-15850600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:15849600-15851200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr11:15849800-15850600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:15850000-15850600	Enhancers	Pancreas	Pancrea
27	chr11:15850000-15851000	Weak transcription	Fetal Kidney	kidney
28	chr11:15850000-15851200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr11:15850000-15851400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:15850200-15850600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:15850200-15850600	Enhancers	Aorta	Aorta
32	chr11:15850200-15851200	Enhancers	Small Intestine	intestine
33	chr11:15850200-15853400	Enhancers	HUVEC	blood vessel
34	chr11:15850400-15852000	Weak transcription	Brain Angular Gyrus	brain

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