Variant report

Variant	rs2236082
Chromosome Location	chr6:131155493-131155494
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1044303	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12199765	0.83[EUR][1000 genomes]
rs12202038	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1360756	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1413754	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236075	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236081	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281490	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6975	0.85[EUR][1000 genomes]
rs9388856	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388857	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9402288	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9402289	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2236082	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131132000-131159200	Weak transcription	HSMM	muscle
2	chr6:131132000-131173800	Weak transcription	HSMMtube	muscle
3	chr6:131136400-131174400	Weak transcription	Left Ventricle	heart
4	chr6:131147600-131157800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:131148000-131157000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:131148800-131158000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:131149000-131172600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr6:131149400-131213200	Weak transcription	Pancreas	Pancrea
9	chr6:131149600-131160400	Weak transcription	Fetal Brain Male	brain
10	chr6:131150400-131161400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:131150600-131183400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:131151600-131157600	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:131151600-131158200	Genic enhancers	HepG2	liver
14	chr6:131151600-131216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:131152400-131159400	Weak transcription	Adipose Nuclei	Adipose
16	chr6:131152400-131161800	Strong transcription	Fetal Intestine Large	intestine
17	chr6:131152800-131168000	Weak transcription	Fetal Kidney	kidney
18	chr6:131153400-131159600	Weak transcription	Fetal Stomach	stomach
19	chr6:131153600-131162400	Weak transcription	Fetal Lung	lung
20	chr6:131154000-131173800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:131154600-131160800	Weak transcription	Fetal Intestine Small	intestine
22	chr6:131154800-131156200	Flanking Active TSS	Liver	Liver
23	chr6:131155000-131160200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr6:131155000-131174600	Weak transcription	Aorta	Aorta

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