Variant report

Variant	rs1863065
Chromosome Location	chr2:86523440-86523441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10210162	0.88[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[ASN][1000 genomes]
rs10210905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11127025	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11675985	0.88[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11682376	0.85[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]
rs11695402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11891758	0.86[ASN][1000 genomes]
rs11892910	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12473739	0.82[CEU][hapmap];0.93[TSI][hapmap]
rs13404016	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[ASN][1000 genomes]
rs1559513	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs1863054	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863064	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[ASN][1000 genomes]
rs2113616	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs2161896	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367205	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs2367231	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]
rs2886899	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3821016	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]
rs4832028	0.82[CEU][hapmap]
rs4832034	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832254	0.82[CEU][hapmap];0.93[TSI][hapmap]
rs4832258	0.82[CEU][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs4832259	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4832266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4832275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57771960	0.96[ASN][1000 genomes]
rs6547666	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs6547672	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6715528	0.81[EUR][1000 genomes]
rs6718596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6728519	0.90[ASN][1000 genomes]
rs6730604	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6734695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6754021	0.86[EUR][1000 genomes]
rs6756213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6758535	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs6760209	0.91[EUR][1000 genomes]
rs7419344	0.82[CEU][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs7576102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7583021	0.82[CEU][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs7606188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs889911	0.82[CEU][hapmap];0.84[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:13)

SNP	Gene	Cis/trans	Tissue	Source
rs1863065	MRPL35	cis	parietal	SCAN
rs1863065	RNF181	cis	cerebellum	SCAN
rs1863065	SMYD1	cis	cerebellum	SCAN
rs1863065	C2orf23	cis	multi-tissue	Pritchard
rs1863065	MRPL35	cis	Nerve Tibial	GTEx
rs1863065	PTCD3	cis	parietal	SCAN
rs1863065	POLR1A	cis	cerebellum	SCAN
rs1863065	SNORD94	cis	cerebellum	SCAN
rs1863065	VAMP5	cis	cerebellum	SCAN
rs1863065	MRPL35	cis	Esophagus Muscularis	GTEx
rs1863065	MRPL35	cis	multi-tissue	Pritchard
rs1863065	MRPL35	cis	cerebellum	SCAN
rs1863065	POLR1A	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86511200-86524000	Weak transcription	Aorta	Aorta
2	chr2:86512400-86524000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:86514000-86529200	Weak transcription	Pancreas	Pancrea
4	chr2:86517800-86524000	Weak transcription	Right Atrium	heart
5	chr2:86518400-86527600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:86520400-86524000	Weak transcription	Right Ventricle	heart
7	chr2:86520600-86524000	Weak transcription	Left Ventricle	heart
8	chr2:86520600-86524000	Weak transcription	Psoas Muscle	Psoas
9	chr2:86520600-86524600	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:86521000-86525000	Weak transcription	HSMMtube	muscle
11	chr2:86521000-86525600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:86521200-86524000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:86521200-86524000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:86521200-86524200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:86521200-86524200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:86521200-86524400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:86521400-86524400	Weak transcription	Fetal Heart	heart
18	chr2:86521600-86528600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:86522000-86523600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:86522600-86524200	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:86522600-86524200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:86522600-86524800	Weak transcription	Brain Angular Gyrus	brain
23	chr2:86522600-86525800	Weak transcription	Fetal Brain Male	brain
24	chr2:86522600-86525800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:86522600-86529000	Weak transcription	Small Intestine	intestine
26	chr2:86522800-86525600	Weak transcription	Fetal Intestine Small	intestine
27	chr2:86523000-86524000	Weak transcription	Brain Germinal Matrix	brain
28	chr2:86523200-86523600	Enhancers	Fetal Brain Female	brain
29	chr2:86523200-86524200	Enhancers	Stomach Smooth Muscle	stomach
30	chr2:86523400-86524600	Weak transcription	Brain Anterior Caudate	brain
31	chr2:86523400-86525200	Weak transcription	Brain Substantia Nigra	brain
32	chr2:86523400-86525600	Weak transcription	Fetal Intestine Large	intestine

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