Variant report

Variant	rs3821016
Chromosome Location	chr2:86509079-86509080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
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]
rs10210905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11127025	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11675985	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11682376	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11695402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11891758	0.93[ASN][1000 genomes]
rs11892910	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12473739	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs13404016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1559513	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1863054	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1863064	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]
rs1863065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863066	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2113616	1.00[CHB][hapmap];0.91[YRI][hapmap]
rs2161896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2367205	0.82[CEU][hapmap];0.83[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];1.00[ASN][1000 genomes]
rs2886899	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[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];0.93[ASN][1000 genomes]
rs4832254	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs4832258	0.82[CEU][hapmap];0.82[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];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4832266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4832275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57771960	0.90[ASN][1000 genomes]
rs6547666	0.82[CEU][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];1.00[ASN][1000 genomes]
rs6715528	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6718596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6728519	0.83[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]
rs6734695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6754021	0.94[EUR][1000 genomes]
rs6756213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6758535	0.82[CEU][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];0.85[ASN][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];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7583021	0.82[CEU][hapmap];0.86[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];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs889911	0.82[CEU][hapmap];0.83[YRI][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	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
rs3821016	MRPL35	cis	Esophagus Muscularis	GTEx
rs3821016	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86499000-86510800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:86499200-86509600	Weak transcription	Aorta	Aorta
3	chr2:86500000-86517400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:86502800-86510400	Weak transcription	Hela-S3	cervix
5	chr2:86502800-86513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:86503400-86510800	Weak transcription	Colonic Mucosa	Colon
7	chr2:86503800-86510600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:86506200-86509200	Enhancers	Psoas Muscle	Psoas
9	chr2:86506200-86512400	Enhancers	Left Ventricle	heart
10	chr2:86506600-86511800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr2:86506800-86513200	Enhancers	Colon Smooth Muscle	Colon
12	chr2:86507400-86509600	Weak transcription	Right Ventricle	heart
13	chr2:86507400-86510000	Weak transcription	Placenta	Placenta
14	chr2:86507600-86511000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:86507800-86509800	Weak transcription	Fetal Intestine Large	intestine
16	chr2:86507800-86510800	Weak transcription	Esophagus	oesophagus
17	chr2:86508000-86510800	Weak transcription	Brain Angular Gyrus	brain
18	chr2:86508000-86511000	Weak transcription	Brain Anterior Caudate	brain
19	chr2:86508000-86520200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:86508200-86510000	Weak transcription	Right Atrium	heart
21	chr2:86508200-86510000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:86508200-86510200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:86508200-86510400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:86508200-86519800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:86508400-86509600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:86508400-86509800	Weak transcription	Fetal Heart	heart
27	chr2:86508400-86510400	Weak transcription	Brain Germinal Matrix	brain
28	chr2:86508400-86510600	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:86508400-86511200	Weak transcription	HSMMtube	muscle
30	chr2:86508400-86513000	Bivalent Enhancer	Fetal Stomach	stomach
31	chr2:86508400-86517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:86508600-86510400	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:86508600-86518400	Weak transcription	Fetal Brain Male	brain
34	chr2:86508800-86510400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:86509000-86509200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:86509000-86509800	Weak transcription	Fetal Intestine Small	intestine
37	chr2:86509000-86510400	Weak transcription	Fetal Lung	lung
38	chr2:86509000-86511600	Weak transcription	Fetal Brain Female	brain

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