Variant report

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1044303	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12194612	0.81[CEU][hapmap]
rs12199765	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12202038	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360756	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1413754	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236081	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236082	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6975	0.86[EUR][1000 genomes]
rs9388856	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9388857	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9402288	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9402289	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9492767	0.82[CEU][hapmap]
rs9492774	0.88[CHB][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	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
rs2281490	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 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	chr6:131150000-131154800	Weak transcription	Aorta	Aorta
11	chr6:131150400-131161400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:131150600-131183400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr6:131151600-131157600	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:131151600-131158200	Genic enhancers	HepG2	liver
15	chr6:131151600-131216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:131151800-131153400	Enhancers	Fetal Stomach	stomach
17	chr6:131152400-131153200	Weak transcription	Fetal Intestine Small	intestine
18	chr6:131152400-131159400	Weak transcription	Adipose Nuclei	Adipose
19	chr6:131152400-131161800	Strong transcription	Fetal Intestine Large	intestine
20	chr6:131152800-131153200	Transcr. at gene 5' and 3'	Liver	Liver
21	chr6:131152800-131168000	Weak transcription	Fetal Kidney	kidney

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