Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86535378..86537907-chr2:86539539..86542949,4	MCF-7	breast:
2	chr2:86530903..86533565-chr2:86534462..86536704,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10210905	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11127025	0.86[AFR][1000 genomes]
rs11682376	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11695402	0.81[AFR][1000 genomes]
rs11891758	0.86[ASN][1000 genomes]
rs11892910	0.97[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13404016	0.83[ASN][1000 genomes]
rs1863054	0.81[AFR][1000 genomes]
rs1863064	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1863065	0.86[ASN][1000 genomes]
rs2161896	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2367231	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2886899	0.96[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3821016	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4832034	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4832259	0.83[AFR][1000 genomes]
rs4832266	0.85[AFR][1000 genomes]
rs4832275	0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs57771960	0.83[ASN][1000 genomes]
rs6547672	0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6715528	0.84[AFR][1000 genomes]
rs6718596	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6734695	0.95[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6756213	0.86[AFR][1000 genomes]
rs6760209	0.86[AFR][1000 genomes]
rs7576102	0.85[AFR][1000 genomes]
rs7606188	0.83[AFR][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
rs1863066	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs1863066	MRPL35	cis	Esophagus Muscularis	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86525800-86540800	Weak transcription	Aorta	Aorta
2	chr2:86529400-86539200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:86529800-86537200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:86530000-86537600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:86530200-86535800	Weak transcription	HSMMtube	muscle
6	chr2:86533000-86538600	Weak transcription	Fetal Brain Female	brain
7	chr2:86533000-86542800	Weak transcription	Fetal Intestine Small	intestine
8	chr2:86533200-86563000	Weak transcription	Brain Germinal Matrix	brain
9	chr2:86533400-86535800	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:86533600-86538000	Weak transcription	Fetal Lung	lung
11	chr2:86534600-86536600	Enhancers	Left Ventricle	heart
12	chr2:86534600-86536600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:86534600-86538200	Enhancers	Fetal Heart	heart
14	chr2:86534800-86537200	Enhancers	Fetal Muscle Leg	muscle
15	chr2:86535200-86537000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr2:86535200-86537400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:86535200-86539600	Enhancers	Rectal Smooth Muscle	rectum
18	chr2:86535400-86536800	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:86535600-86535800	Bivalent Enhancer	Fetal Stomach	stomach
20	chr2:86535600-86535800	Enhancers	Stomach Smooth Muscle	stomach
21	chr2:86535600-86536800	Enhancers	Psoas Muscle	Psoas
22	chr2:86535600-86536800	Enhancers	Right Atrium	heart
23	chr2:86535600-86537200	Enhancers	Right Ventricle	heart

Quick Search: