Variant report

Variant	rs6718596
Chromosome Location	chr2:86533551-86533552
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86530903..86533565-chr2:86534462..86536704,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10210162	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10210905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11127025	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11675985	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11682376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11695402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11891758	0.93[ASN][1000 genomes]
rs11892910	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13404016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1559513	0.83[YRI][hapmap]
rs1863054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1863064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1863065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1863066	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2113616	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2161896	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2367205	0.87[YRI][hapmap]
rs2367231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2886899	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3821016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4832034	1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4832258	0.82[YRI][hapmap]
rs4832259	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4832266	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4832275	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57771960	0.90[ASN][1000 genomes]
rs6547666	0.83[YRI][hapmap]
rs6547672	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6715528	0.84[AFR][1000 genomes]
rs6728519	0.83[ASN][1000 genomes]
rs6730604	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6734695	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6756213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6758535	0.83[YRI][hapmap]
rs6760209	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7576102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs7583021	0.86[YRI][hapmap]
rs7606188	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs889911	0.87[YRI][hapmap]

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
rs6718596	MRPL35	cis	Esophagus Muscularis	GTEx
rs6718596	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86524200-86533600	Enhancers	Fetal Lung	lung
2	chr2:86525800-86540800	Weak transcription	Aorta	Aorta
3	chr2:86529400-86535600	Weak transcription	Psoas Muscle	Psoas
4	chr2:86529400-86535600	Weak transcription	Right Ventricle	heart
5	chr2:86529400-86539200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:86529600-86534600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:86529600-86535600	Weak transcription	Right Atrium	heart
8	chr2:86529800-86537200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:86530000-86537600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:86530200-86535800	Weak transcription	HSMMtube	muscle
11	chr2:86532600-86534600	Weak transcription	Fetal Heart	heart
12	chr2:86532800-86535200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:86532800-86535600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:86533000-86534600	Weak transcription	Left Ventricle	heart
15	chr2:86533000-86538600	Weak transcription	Fetal Brain Female	brain
16	chr2:86533000-86542800	Weak transcription	Fetal Intestine Small	intestine
17	chr2:86533200-86533600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:86533200-86534800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:86533200-86535000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:86533200-86563000	Weak transcription	Brain Germinal Matrix	brain
21	chr2:86533400-86534800	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:86533400-86535800	Weak transcription	Colon Smooth Muscle	Colon

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