Variant report

Variant	rs2241162
Chromosome Location	chr2:39776534-39776535
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	chr2:39767599..39769475-chr2:39773569..39776768,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12712645	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1526027	0.83[AMR][1000 genomes]
rs17533512	0.89[EUR][1000 genomes]
rs6745941	0.84[AMR][1000 genomes]
rs714855	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7608399	0.88[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	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2241162	EML4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39761800-39777600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:39762200-39785000	Weak transcription	HSMMtube	muscle
3	chr2:39769200-39777000	Weak transcription	Fetal Heart	heart
4	chr2:39769600-39776600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:39770400-39776800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:39770800-39789600	Weak transcription	Left Ventricle	heart
7	chr2:39773200-39778200	Enhancers	HMEC	breast
8	chr2:39773600-39777200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:39774200-39778000	Enhancers	Placenta	Placenta
10	chr2:39774400-39777200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:39774400-39777600	Weak transcription	Hela-S3	cervix
12	chr2:39774600-39777600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:39775400-39776800	Weak transcription	Psoas Muscle	Psoas
14	chr2:39775600-39776800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:39775600-39777000	Weak transcription	HUVEC	blood vessel
16	chr2:39775600-39777600	Weak transcription	NH-A	brain
17	chr2:39775800-39780400	Enhancers	HepG2	liver
18	chr2:39776000-39777800	Weak transcription	NHEK	skin
19	chr2:39776200-39778000	Enhancers	Pancreas	Pancrea
20	chr2:39776400-39776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:39776400-39778000	Enhancers	Fetal Intestine Large	intestine
22	chr2:39776400-39778400	Enhancers	Stomach Mucosa	stomach
23	chr2:39776400-39779000	Enhancers	Fetal Intestine Small	intestine

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