Variant report

Variant	rs7595785
Chromosome Location	chr2:86556405-86556406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86554507..86558394-chr2:86560101..86562746,3	K562	blood:
2	chr2:86422575..86425568-chr2:86555835..86558825,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273080	Chromatin interaction
ENSG00000132305	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10165626	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10204589	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11127019	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11127020	0.85[AMR][1000 genomes]
rs11127021	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11127024	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11676515	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11680025	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11681689	0.84[AMR][1000 genomes]
rs11687392	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11689971	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11691807	0.83[AMR][1000 genomes]
rs12466728	0.84[AMR][1000 genomes]
rs12476826	0.84[AMR][1000 genomes]
rs12988844	0.85[AMR][1000 genomes]
rs13005014	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13024436	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17438687	0.85[AMR][1000 genomes]
rs17738058	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1863050	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1863055	0.82[AMR][1000 genomes]
rs1863056	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1863057	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1863058	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1863060	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1863061	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113615	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276625	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2303358	0.85[AMR][1000 genomes]
rs2367232	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28488524	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34705107	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35146160	0.99[ASN][1000 genomes]
rs35353674	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35408390	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35723061	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs36079379	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36104799	0.84[AMR][1000 genomes]
rs4610056	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832030	0.85[AMR][1000 genomes]
rs4832031	0.85[AMR][1000 genomes]
rs4832036	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4832260	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4832261	0.83[AMR][1000 genomes]
rs4832262	0.84[AMR][1000 genomes]
rs4832263	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4832264	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4832265	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4832267	0.84[AMR][1000 genomes]
rs4832270	0.84[AMR][1000 genomes]
rs4832271	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4832272	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4832276	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4832277	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56282355	0.82[AMR][1000 genomes]
rs56394965	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57270703	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6547668	0.84[AMR][1000 genomes]
rs6705366	0.84[AMR][1000 genomes]
rs6713378	0.83[AMR][1000 genomes]
rs6713740	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6728029	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6745235	0.84[AMR][1000 genomes]
rs718292	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7568971	0.84[AMR][1000 genomes]
rs7569654	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7583074	0.84[AMR][1000 genomes]
rs9309635	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9677502	0.85[AMR][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
rs7595785	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86533200-86563000	Weak transcription	Brain Germinal Matrix	brain
2	chr2:86536200-86559800	Weak transcription	HSMMtube	muscle
3	chr2:86537600-86563000	Weak transcription	Brain Anterior Caudate	brain
4	chr2:86542200-86559400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:86543000-86556800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:86549200-86563000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:86551600-86559200	Weak transcription	Fetal Brain Male	brain
8	chr2:86552200-86563800	Weak transcription	Aorta	Aorta
9	chr2:86552400-86556800	Weak transcription	Fetal Brain Female	brain
10	chr2:86554600-86556800	Weak transcription	Right Atrium	heart
11	chr2:86555000-86557600	Enhancers	Left Ventricle	heart
12	chr2:86555400-86556800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:86555400-86559600	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:86555400-86563200	Weak transcription	Spleen	Spleen
15	chr2:86555600-86558400	Weak transcription	Fetal Heart	heart
16	chr2:86555800-86557000	ZNF genes & repeats	Fetal Intestine Small	intestine

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