Variant report

Variant	rs6725234
Chromosome Location	chr2:86510288-86510289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:86510140-86510290	GM12865	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86506964..86508906-chr2:86509472..86512092,2	K562	blood:

Variant related genes	Relation type
REEP1	TF binding region

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10165626	0.85[CEU][hapmap];0.84[CHB][hapmap];0.84[AMR][1000 genomes]
rs10189492	0.80[CEU][hapmap]
rs10200186	0.80[ASN][1000 genomes]
rs10200526	0.89[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs10200619	0.85[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs10201457	0.81[JPT][hapmap]
rs10204589	0.92[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10520415	0.88[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs11127019	0.81[EUR][1000 genomes]
rs11127020	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11127021	0.84[EUR][1000 genomes]
rs11127024	0.92[CEU][hapmap];0.84[CHB][hapmap];0.86[EUR][1000 genomes]
rs11127026	0.88[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs11127029	0.81[CEU][hapmap]
rs11674249	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11675942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11676515	0.85[CEU][hapmap];0.84[CHB][hapmap];0.86[EUR][1000 genomes]
rs11680025	0.92[CEU][hapmap];0.84[CHB][hapmap]
rs11681689	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11685863	0.84[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes]
rs11687392	0.85[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11689971	0.84[EUR][1000 genomes]
rs11691726	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs11691807	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12052607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12466728	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12472676	0.89[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs12476826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12478575	0.89[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs12478653	0.88[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs12622200	0.88[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs12714179	0.88[CHB][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs12714180	0.89[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs12988844	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12999029	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs13005014	0.85[CEU][hapmap];0.84[CHB][hapmap];0.84[EUR][1000 genomes]
rs13017338	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs13020869	0.80[ASN][1000 genomes]
rs13421310	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs17438687	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17738058	0.85[CEU][hapmap];0.84[CHB][hapmap];0.86[EUR][1000 genomes]
rs17738096	0.88[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs1863050	0.84[CHB][hapmap]
rs1863051	0.84[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap]
rs1863052	0.84[CEU][hapmap];0.88[CHB][hapmap];0.81[JPT][hapmap];0.80[AMR][1000 genomes]
rs1863056	0.92[CEU][hapmap];0.84[CHB][hapmap];0.86[EUR][1000 genomes]
rs1863057	0.85[CEU][hapmap];0.84[CHB][hapmap];0.86[EUR][1000 genomes]
rs1863058	0.92[CEU][hapmap];0.83[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1863059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1863060	0.85[CEU][hapmap];0.84[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1863061	0.85[CEU][hapmap];0.84[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2113615	0.85[CEU][hapmap];0.84[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2276625	0.84[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2278105	0.81[JPT][hapmap]
rs2303358	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2303359	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2367232	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs2367233	0.81[CEU][hapmap]
rs28488524	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34048420	0.80[ASN][1000 genomes]
rs34069316	0.80[ASN][1000 genomes]
rs34705107	0.84[EUR][1000 genomes]
rs35281683	0.80[ASN][1000 genomes]
rs35353674	0.86[EUR][1000 genomes]
rs35408390	0.83[EUR][1000 genomes]
rs35494267	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35762338	0.80[ASN][1000 genomes]
rs36104799	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4392258	0.82[AMR][1000 genomes]
rs4610056	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs4832030	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4832031	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4832033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832036	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs4832260	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4832261	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4832262	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4832263	0.84[CEU][hapmap];0.84[CHB][hapmap];0.84[EUR][1000 genomes]
rs4832264	0.83[EUR][1000 genomes]
rs4832265	0.85[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4832267	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4832268	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4832269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs4832270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4832271	0.84[CEU][hapmap];0.84[CHB][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4832272	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4832274	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs4832276	0.92[CEU][hapmap]
rs56282355	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56394965	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57270703	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6547668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6547674	0.80[CEU][hapmap]
rs6705366	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6713378	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6713456	0.89[CHB][hapmap];0.83[JPT][hapmap]
rs6713740	0.84[EUR][1000 genomes]
rs6714362	0.81[JPT][hapmap]
rs6738585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6746198	0.85[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.85[AMR][1000 genomes]
rs67903513	0.80[ASN][1000 genomes]
rs718292	0.84[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7560886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568971	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7569654	0.84[EUR][1000 genomes]
rs7571424	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs7583074	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7593440	0.85[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs9309635	0.92[CEU][hapmap];0.84[CHB][hapmap];0.86[EUR][1000 genomes]
rs9677502	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6725234	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 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	chr2:86500000-86517400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:86502800-86510400	Weak transcription	Hela-S3	cervix
4	chr2:86502800-86513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:86503400-86510800	Weak transcription	Colonic Mucosa	Colon
6	chr2:86503800-86510600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:86506200-86512400	Enhancers	Left Ventricle	heart
8	chr2:86506600-86511800	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr2:86506800-86513200	Enhancers	Colon Smooth Muscle	Colon
10	chr2:86507600-86511000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:86507800-86510800	Weak transcription	Esophagus	oesophagus
12	chr2:86508000-86510800	Weak transcription	Brain Angular Gyrus	brain
13	chr2:86508000-86511000	Weak transcription	Brain Anterior Caudate	brain
14	chr2:86508000-86520200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:86508200-86510400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:86508200-86519800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:86508400-86510400	Weak transcription	Brain Germinal Matrix	brain
18	chr2:86508400-86510600	Enhancers	Stomach Smooth Muscle	stomach
19	chr2:86508400-86511200	Weak transcription	HSMMtube	muscle
20	chr2:86508400-86513000	Bivalent Enhancer	Fetal Stomach	stomach
21	chr2:86508400-86517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:86508600-86510400	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:86508600-86518400	Weak transcription	Fetal Brain Male	brain
24	chr2:86508800-86510400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:86509000-86510400	Weak transcription	Fetal Lung	lung
26	chr2:86509000-86511600	Weak transcription	Fetal Brain Female	brain
27	chr2:86509600-86511000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:86509600-86511200	Enhancers	Aorta	Aorta
29	chr2:86509600-86512400	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:86509600-86514000	Enhancers	Right Ventricle	heart
31	chr2:86509800-86510800	Enhancers	Fetal Intestine Small	intestine
32	chr2:86509800-86511600	Enhancers	Fetal Heart	heart
33	chr2:86509800-86511800	Enhancers	Fetal Intestine Large	intestine
34	chr2:86510000-86510400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:86510000-86512000	Enhancers	Placenta	Placenta
36	chr2:86510000-86512200	Enhancers	Psoas Muscle	Psoas
37	chr2:86510200-86510600	Weak transcription	Right Atrium	heart
38	chr2:86510200-86511000	Enhancers	Fetal Kidney	kidney
39	chr2:86510200-86511200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:86510200-86512400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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