Variant report

Variant	rs3827681
Chromosome Location	chr10:49659637-49659638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10218874	0.80[EUR][1000 genomes]
rs10508903	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1051507	0.92[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1051508	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1051509	0.89[CEU][hapmap];0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10745266	0.85[CEU][hapmap]
rs10745269	0.81[EUR][1000 genomes]
rs10745270	0.80[EUR][1000 genomes]
rs10776595	0.82[CEU][hapmap]
rs10776596	0.81[CEU][hapmap]
rs10776598	0.81[EUR][1000 genomes]
rs10776600	0.88[ASN][1000 genomes]
rs10857560	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs10857566	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11101306	0.84[EUR][1000 genomes]
rs11101317	0.82[EUR][1000 genomes]
rs11101318	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs11101320	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11101325	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12769902	0.84[ASN][1000 genomes]
rs2017750	0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs2263102	0.80[EUR][1000 genomes]
rs2377351	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs2463960	0.82[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs2590381	0.80[EUR][1000 genomes]
rs2698761	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs2698766	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs3789320	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3813864	0.95[JPT][hapmap]
rs3827680	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs4838590	0.90[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4838593	0.86[ASN][1000 genomes]
rs6537560	0.81[EUR][1000 genomes]
rs6537561	0.81[CEU][hapmap]
rs7072515	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs7075976	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs7086070	0.81[EUR][1000 genomes]
rs7086275	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7101060	0.85[CEU][hapmap]
rs734371	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs7904142	0.82[EUR][1000 genomes]
rs7924070	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8428	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs874208	0.84[ASN][1000 genomes]
rs883604	0.80[EUR][1000 genomes]
rs9284	0.90[CEU][hapmap]
rs9888128	0.81[CEU][hapmap];0.82[EUR][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	esv1005947	chr10:49659234-49660340	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3827681	MAPK8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 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	chr10:49621400-49664400	Weak transcription	Brain Angular Gyrus	brain
5	chr10:49624600-49664800	Weak transcription	Gastric	stomach
6	chr10:49626600-49664400	Weak transcription	Spleen	Spleen
7	chr10:49644200-49664400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr10:49644600-49660400	Weak transcription	Brain Anterior Caudate	brain
9	chr10:49647800-49663000	Weak transcription	NHEK	skin
10	chr10:49647800-49664400	Weak transcription	Fetal Intestine Small	intestine
11	chr10:49648000-49664400	Weak transcription	Right Atrium	heart
12	chr10:49650600-49664000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:49652000-49673000	Weak transcription	HMEC	breast
14	chr10:49652600-49664200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:49653000-49660400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr10:49653000-49673600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr10:49653200-49662400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:49653200-49663600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:49653600-49662400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr10:49653600-49664400	Weak transcription	Esophagus	oesophagus
21	chr10:49653600-49664600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:49655200-49677800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr10:49656000-49661800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr10:49656600-49662200	Strong transcription	Primary hematopoietic stem cells	blood
25	chr10:49656800-49662000	Strong transcription	Fetal Stomach	stomach
26	chr10:49657200-49661200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:49657600-49660800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:49657600-49660800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:49657600-49662000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr10:49657600-49662600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:49657800-49662200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:49657800-49664400	Strong transcription	NHLF	lung
33	chr10:49657800-49677600	Weak transcription	HSMMtube	muscle
34	chr10:49658000-49660400	Weak transcription	K562	blood
35	chr10:49658000-49661800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:49658000-49664400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr10:49658200-49660400	Weak transcription	HSMM	muscle
38	chr10:49658200-49660400	Weak transcription	NH-A	brain
39	chr10:49658200-49663400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:49658200-49664200	Weak transcription	Adipose Nuclei	Adipose
41	chr10:49658200-49664200	Weak transcription	HUVEC	blood vessel
42	chr10:49658200-49664400	Weak transcription	Right Ventricle	heart
43	chr10:49658400-49662000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:49658400-49662000	Strong transcription	Brain Hippocampus Middle	brain
45	chr10:49658400-49662400	Strong transcription	Osteobl	bone
46	chr10:49658600-49660800	Strong transcription	Brain Substantia Nigra	brain
47	chr10:49658600-49661000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr10:49658600-49662400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:49658600-49662400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr10:49658600-49664400	Strong transcription	Muscle Satellite Cultured Cells	--

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