Variant report

Variant	rs1051507
Chromosome Location	chr10:49654403-49654404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49527138..49528910-chr10:49653802..49655584,2	K562	blood:
2	chr10:49637793..49639476-chr10:49653673..49655719,2	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10218874	0.91[EUR][1000 genomes]
rs10437448	0.90[EUR][1000 genomes]
rs10508903	0.89[CEU][hapmap];0.84[CHB][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1051508	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1051509	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10745266	0.81[ASW][hapmap];0.93[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs10745269	0.92[EUR][1000 genomes]
rs10745270	0.91[EUR][1000 genomes]
rs10776595	0.81[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap];0.89[EUR][1000 genomes]
rs10776596	0.81[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.92[MEX][hapmap];0.89[EUR][1000 genomes]
rs10776598	0.92[EUR][1000 genomes]
rs10776600	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10857560	0.81[ASW][hapmap];0.89[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10857562	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10857566	0.92[CEU][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10857567	0.84[ASN][1000 genomes]
rs11101290	0.87[EUR][1000 genomes]
rs11101298	0.81[EUR][1000 genomes]
rs11101306	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11101317	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11101318	0.81[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11101320	0.81[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11101325	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11598434	0.85[EUR][1000 genomes]
rs11599396	0.84[ASN][1000 genomes]
rs12769902	0.82[ASN][1000 genomes]
rs1345103	0.90[CHB][hapmap];0.89[EUR][1000 genomes]
rs1919708	0.89[EUR][1000 genomes]
rs1919712	0.82[CEU][hapmap];0.84[CHB][hapmap]
rs2017750	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2263102	0.90[EUR][1000 genomes]
rs2289805	0.90[CHD][hapmap]
rs2377351	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2463960	0.81[CEU][hapmap];0.95[CHB][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2590381	0.90[EUR][1000 genomes]
rs2698761	0.81[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.80[MEX][hapmap];0.91[EUR][1000 genomes]
rs2698766	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs2889611	0.84[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3789320	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3827680	0.81[CEU][hapmap];0.84[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3827681	0.92[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4838590	0.89[CEU][hapmap];0.84[CHB][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4838591	0.84[ASN][1000 genomes]
rs4838593	0.85[ASN][1000 genomes]
rs4838595	0.82[JPT][hapmap]
rs6537560	0.92[EUR][1000 genomes]
rs6537561	0.81[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.89[EUR][1000 genomes]
rs7072515	0.93[CEU][hapmap];0.84[CHB][hapmap];0.92[EUR][1000 genomes]
rs7075976	0.81[ASW][hapmap];0.93[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7086070	0.92[EUR][1000 genomes]
rs7086275	0.81[CEU][hapmap];0.84[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.92[MEX][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7101060	0.81[ASW][hapmap];0.92[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.93[LWK][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.91[EUR][1000 genomes]
rs72794398	0.86[ASN][1000 genomes]
rs734371	0.81[CEU][hapmap];0.90[EUR][1000 genomes]
rs7904142	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7924070	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8428	0.81[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs867631	0.88[EUR][1000 genomes]
rs874208	0.93[ASN][1000 genomes]
rs883604	0.91[EUR][1000 genomes]
rs9284	0.89[CEU][hapmap];0.84[CHB][hapmap]
rs9888128	0.81[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.92[MEX][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1039508	chr10:49595718-49654403	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1051507	MAPK8	cis	cerebellum	SCAN
rs1051507	MAPK8	cis	parietal	SCAN
rs1051507	MAPK8	Cis_1M	lymphoblastoid	RTeQTL
rs1051507	MAPK8	cis	normal skin	skin_eQTL
rs1051507	ARHGAP22	cis	parietal	SCAN
rs1051507	ANUBL1	cis	cerebellum	SCAN
rs1051507	SGMS1	cis	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49612000-49664200	Weak transcription	Thymus	Thymus
2	chr10:49612800-49660200	Weak transcription	Aorta	Aorta
3	chr10:49619000-49664200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:49620800-49658600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:49621200-49657400	Weak transcription	Brain Hippocampus Middle	brain
6	chr10:49621400-49658600	Weak transcription	Brain Substantia Nigra	brain
7	chr10:49621400-49664400	Weak transcription	Brain Angular Gyrus	brain
8	chr10:49624600-49664800	Weak transcription	Gastric	stomach
9	chr10:49626600-49664400	Weak transcription	Spleen	Spleen
10	chr10:49639600-49657800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:49644200-49655000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr10:49644200-49664400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr10:49644600-49656600	Weak transcription	HUVEC	blood vessel
14	chr10:49644600-49660400	Weak transcription	Brain Anterior Caudate	brain
15	chr10:49644800-49654800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr10:49646200-49657200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:49646600-49655200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr10:49647800-49663000	Weak transcription	NHEK	skin
19	chr10:49647800-49664400	Weak transcription	Fetal Intestine Small	intestine
20	chr10:49648000-49656600	Weak transcription	NH-A	brain
21	chr10:49648000-49664400	Weak transcription	Right Atrium	heart
22	chr10:49648600-49656600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:49648600-49657800	Weak transcription	Ovary	ovary
24	chr10:49648800-49656600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:49649000-49656800	Strong transcription	NHLF	lung
26	chr10:49649200-49656400	Strong transcription	Osteobl	bone
27	chr10:49650000-49655800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:49650600-49664000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:49651200-49656600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr10:49651800-49657200	Weak transcription	HSMMtube	muscle
31	chr10:49652000-49673000	Weak transcription	HMEC	breast
32	chr10:49652200-49655800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:49652400-49655200	Weak transcription	HSMM	muscle
34	chr10:49652400-49657000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:49652600-49655400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:49652600-49658200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:49652600-49664200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:49652800-49656000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr10:49652800-49656600	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr10:49653000-49654800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr10:49653000-49660400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr10:49653000-49673600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr10:49653200-49655800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:49653200-49662400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:49653200-49663600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr10:49653400-49654600	Strong transcription	Fetal Stomach	stomach
47	chr10:49653400-49657800	Weak transcription	Right Ventricle	heart
48	chr10:49653400-49659400	Weak transcription	Pancreas	Pancrea
49	chr10:49653600-49656600	Weak transcription	Fetal Muscle Leg	muscle
50	chr10:49653600-49657000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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