Variant report

Variant	rs10186289
Chromosome Location	chr2:86512988-86512989
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	chr2:86506417..86507945-chr2:86511790..86513500,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1007502	0.90[JPT][hapmap]
rs10165626	0.81[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs10189492	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs10200186	0.81[EUR][1000 genomes]
rs10200526	0.85[CEU][hapmap];0.84[CHB][hapmap];0.82[EUR][1000 genomes]
rs10200619	0.84[CHB][hapmap]
rs10204589	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs10520415	0.92[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs11127019	0.82[JPT][hapmap]
rs11127024	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs11127026	0.92[CEU][hapmap];0.83[CHB][hapmap];0.81[EUR][1000 genomes]
rs11676515	0.81[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs11680025	0.80[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs11685863	0.84[CHB][hapmap]
rs11687392	0.80[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs11689971	0.82[JPT][hapmap]
rs12469233	0.81[EUR][1000 genomes]
rs12472390	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs12472676	0.85[CEU][hapmap];0.84[CHB][hapmap];0.85[EUR][1000 genomes]
rs12476706	0.82[CEU][hapmap]
rs12478575	0.85[CEU][hapmap];0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs12478653	0.87[CEU][hapmap];0.83[CHB][hapmap];0.81[EUR][1000 genomes]
rs12620833	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs12622200	0.92[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs12714179	0.85[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs12714180	0.85[CEU][hapmap];0.84[CHB][hapmap];0.82[EUR][1000 genomes]
rs12999029	0.92[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs13000103	0.85[JPT][hapmap]
rs13005014	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs13015186	0.82[CEU][hapmap]
rs13017143	0.84[CEU][hapmap]
rs13017338	0.85[CEU][hapmap];0.84[CHB][hapmap];0.85[EUR][1000 genomes]
rs13020869	0.82[EUR][1000 genomes]
rs13023154	0.88[CEU][hapmap]
rs13024436	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs13024964	0.82[CEU][hapmap]
rs13421310	0.85[CEU][hapmap];0.84[CHB][hapmap];0.84[EUR][1000 genomes]
rs1559514	0.95[JPT][hapmap]
rs17737955	0.82[CEU][hapmap]
rs17738058	0.81[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs17738096	0.92[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes]
rs1863050	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs1863051	0.84[CEU][hapmap];0.83[CHB][hapmap]
rs1863052	0.84[CEU][hapmap];0.83[CHB][hapmap]
rs1863056	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs1863057	0.81[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs1863058	0.85[JPT][hapmap]
rs1863060	0.81[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs1863061	0.81[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs1863063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042502	0.95[JPT][hapmap]
rs2113615	0.81[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs2276625	0.85[JPT][hapmap]
rs2278105	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2367232	0.81[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs28488524	0.82[ASN][1000 genomes]
rs34048420	0.82[EUR][1000 genomes]
rs34069316	0.82[EUR][1000 genomes]
rs35160687	0.84[EUR][1000 genomes]
rs35281683	0.82[EUR][1000 genomes]
rs35353674	0.80[ASN][1000 genomes]
rs35370705	0.84[EUR][1000 genomes]
rs35762338	0.85[EUR][1000 genomes]
rs4610056	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs4832036	0.88[CHB][hapmap];0.87[JPT][hapmap]
rs4832263	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs4832265	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs4832271	0.80[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs4832272	0.80[ASN][1000 genomes]
rs4832274	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs4832276	0.85[JPT][hapmap]
rs56394965	0.80[ASN][1000 genomes]
rs57270703	0.80[ASN][1000 genomes]
rs6547673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6547674	0.80[CEU][hapmap]
rs6713456	0.85[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6714362	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs6728029	0.98[ASN][1000 genomes]
rs6746198	0.84[CHB][hapmap]
rs6758173	1.00[JPT][hapmap]
rs67903513	0.85[EUR][1000 genomes]
rs718292	0.85[JPT][hapmap]
rs7563887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569654	0.82[JPT][hapmap]
rs7571424	0.92[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7593440	0.84[CHB][hapmap]
rs9309635	0.80[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][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
rs10186289	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs10186289	IMMT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86500000-86517400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:86502800-86513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:86506800-86513200	Enhancers	Colon Smooth Muscle	Colon
4	chr2:86508000-86520200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:86508200-86519800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:86508400-86513000	Bivalent Enhancer	Fetal Stomach	stomach
7	chr2:86508400-86517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:86508600-86518400	Weak transcription	Fetal Brain Male	brain
9	chr2:86509600-86514000	Enhancers	Right Ventricle	heart
10	chr2:86510400-86513000	Enhancers	Fetal Lung	lung
11	chr2:86510400-86513400	Enhancers	Fetal Muscle Trunk	muscle
12	chr2:86510400-86514400	Enhancers	Fetal Muscle Leg	muscle
13	chr2:86510600-86514000	Enhancers	Pancreas	Pancrea
14	chr2:86511000-86518000	Weak transcription	Fetal Kidney	kidney
15	chr2:86511200-86513200	Enhancers	HSMMtube	muscle
16	chr2:86511200-86524000	Weak transcription	Aorta	Aorta
17	chr2:86511800-86513200	Weak transcription	Lung	lung
18	chr2:86511800-86517600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:86512000-86513200	Weak transcription	Placenta	Placenta
20	chr2:86512000-86513200	Weak transcription	Gastric	stomach
21	chr2:86512000-86518200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:86512000-86521800	Weak transcription	Fetal Intestine Small	intestine
23	chr2:86512200-86513000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:86512200-86513000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:86512200-86513000	Enhancers	Stomach Smooth Muscle	stomach
26	chr2:86512200-86513200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:86512200-86513200	Weak transcription	Psoas Muscle	Psoas
28	chr2:86512200-86514000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:86512400-86518000	Weak transcription	Brain Germinal Matrix	brain
30	chr2:86512400-86519600	Weak transcription	Fetal Brain Female	brain
31	chr2:86512400-86524000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:86512600-86513000	Weak transcription	Right Atrium	heart
33	chr2:86512600-86513400	Enhancers	Brain Anterior Caudate	brain
34	chr2:86512600-86513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:86512800-86513600	Enhancers	Left Ventricle	heart
36	chr2:86512800-86513800	Flanking Active TSS	Fetal Heart	heart

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