Variant report

Variant	rs1863064
Chromosome Location	chr2:86518289-86518290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10187875	0.84[EUR][1000 genomes]
rs10210162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10210905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11127025	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11675985	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11682376	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11891758	0.86[ASN][1000 genomes]
rs11892910	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12473739	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs13404016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1559513	0.82[CEU][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1863054	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863066	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2113616	1.00[CHB][hapmap];0.95[YRI][hapmap]
rs2161896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367205	0.82[CEU][hapmap];0.92[YRI][hapmap];0.90[EUR][1000 genomes]
rs2367231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2886899	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3821016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4832028	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs4832034	1.00[CHB][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832254	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs4832258	0.82[CEU][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4832259	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4832266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4832275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57771960	0.96[ASN][1000 genomes]
rs6547666	0.82[CEU][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6547672	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6715528	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6718596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6728519	0.90[ASN][1000 genomes]
rs6730604	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6734695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6754021	0.94[EUR][1000 genomes]
rs6756213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6758535	0.82[CEU][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6760209	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7419344	0.82[CEU][hapmap];0.94[EUR][1000 genomes]
rs7576102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7583021	0.82[CEU][hapmap];0.91[YRI][hapmap];0.90[EUR][1000 genomes]
rs7592211	0.83[EUR][1000 genomes]
rs7606188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs889911	0.82[CEU][hapmap];0.92[YRI][hapmap];0.93[EUR][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1863064	MRPL35	cis	Esophagus Muscularis	GTEx
rs1863064	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86508000-86520200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:86508200-86519800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:86508600-86518400	Weak transcription	Fetal Brain Male	brain
4	chr2:86511200-86524000	Weak transcription	Aorta	Aorta
5	chr2:86512000-86521800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:86512400-86519600	Weak transcription	Fetal Brain Female	brain
7	chr2:86512400-86524000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:86513400-86520200	Weak transcription	Brain Anterior Caudate	brain
9	chr2:86514000-86529200	Weak transcription	Pancreas	Pancrea
10	chr2:86517200-86519000	Enhancers	Fetal Muscle Leg	muscle
11	chr2:86517400-86521200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:86517400-86521200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:86517600-86518400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:86517600-86518400	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr2:86517600-86518400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:86517600-86518800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:86517600-86519200	Enhancers	Left Ventricle	heart
18	chr2:86517600-86520600	Enhancers	Psoas Muscle	Psoas
19	chr2:86517600-86522000	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:86517800-86518400	Enhancers	Adipose Nuclei	Adipose
21	chr2:86517800-86518800	Enhancers	HSMMtube	muscle
22	chr2:86517800-86519200	Enhancers	Colon Smooth Muscle	Colon
23	chr2:86517800-86524000	Weak transcription	Right Atrium	heart
24	chr2:86518000-86518600	Enhancers	Fetal Kidney	kidney
25	chr2:86518000-86519000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:86518000-86521200	Enhancers	Brain Germinal Matrix	brain
27	chr2:86518200-86518600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:86518200-86518600	Weak transcription	Right Ventricle	heart
29	chr2:86518200-86519200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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