Variant report

Variant	rs2102686
Chromosome Location	chr10:50233977-50233978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1125517	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12763621	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12763646	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12764062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12764806	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12765128	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12765141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12767010	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12768497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12769016	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12770345	0.86[CHB][hapmap]
rs12770669	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12770882	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12774742	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12775075	0.93[ASN][1000 genomes]
rs12775861	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12775969	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12776211	0.85[CHB][hapmap];0.84[CHD][hapmap]
rs12779947	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12782892	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17773323	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877798	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1877806	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1913519	0.90[EUR][1000 genomes]
rs1996185	0.94[EUR][1000 genomes]
rs2175916	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175917	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254863	0.93[EUR][1000 genomes]
rs2255253	0.90[EUR][1000 genomes]
rs2255360	0.91[EUR][1000 genomes]
rs34706288	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3763776	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3810954	0.82[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3938117	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7078453	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7078724	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7082096	0.85[CHB][hapmap];0.84[CHD][hapmap]
rs7082251	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7083453	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7912598	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[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	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2102686	MAPK8	cis	cerebellum	SCAN
rs2102686	ACAD11	trans	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50218600-50238200	Weak transcription	Esophagus	oesophagus
2	chr10:50222800-50279000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:50223000-50254200	Weak transcription	NHDF-Ad	bronchial
4	chr10:50224400-50258200	Weak transcription	Brain Anterior Caudate	brain
5	chr10:50224600-50244800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:50227800-50237400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:50227800-50238800	Weak transcription	HSMMtube	muscle
8	chr10:50227800-50243200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:50231400-50234000	Genic enhancers	Fetal Muscle Leg	muscle
10	chr10:50231400-50234400	Enhancers	Ovary	ovary
11	chr10:50231600-50234000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr10:50231600-50234200	Enhancers	Fetal Intestine Small	intestine
13	chr10:50232200-50234000	Enhancers	Placenta	Placenta
14	chr10:50232200-50234000	Enhancers	Left Ventricle	heart
15	chr10:50232200-50241800	Weak transcription	Fetal Kidney	kidney
16	chr10:50232400-50279200	Weak transcription	Brain Hippocampus Middle	brain
17	chr10:50232600-50235000	Weak transcription	Brain Angular Gyrus	brain
18	chr10:50232600-50245000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:50232800-50237000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:50232800-50242000	Weak transcription	Brain Substantia Nigra	brain
21	chr10:50232800-50247800	Weak transcription	Right Atrium	heart
22	chr10:50232800-50255400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr10:50233000-50236600	Weak transcription	Adipose Nuclei	Adipose
24	chr10:50233000-50237400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr10:50233000-50239800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:50233000-50266000	Weak transcription	Colon Smooth Muscle	Colon
27	chr10:50233200-50238200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr10:50233400-50234000	Enhancers	Liver	Liver
29	chr10:50233400-50234800	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr10:50233400-50235800	Strong transcription	Fetal Stomach	stomach
31	chr10:50233400-50241600	Weak transcription	Fetal Lung	lung
32	chr10:50233600-50234400	Enhancers	HepG2	liver
33	chr10:50233800-50234000	ZNF genes & repeats	Aorta	Aorta
34	chr10:50233800-50235200	Enhancers	Lung	lung
35	chr10:50233800-50237600	Weak transcription	Gastric	stomach
36	chr10:50233800-50237800	Weak transcription	Fetal Intestine Large	intestine
37	chr10:50233800-50247000	Weak transcription	Right Ventricle	heart
38	chr10:50233800-50261400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr10:50233800-50261400	Weak transcription	Spleen	Spleen

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