Variant report

Variant	rs28812545
Chromosome Location	chr6:131329177-131329178
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10872375	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11154611	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11760051	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12195366	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12196734	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12197829	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12203760	0.99[ASN][1000 genomes]
rs12214021	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1569195	0.99[ASN][1000 genomes]
rs17059954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1976981	0.98[ASN][1000 genomes]
rs2151068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178282	0.99[ASN][1000 genomes]
rs4259270	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498389	0.99[ASN][1000 genomes]
rs62423583	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6901548	0.97[ASN][1000 genomes]
rs6902930	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903705	0.99[ASN][1000 genomes]
rs6905151	0.98[ASN][1000 genomes]
rs6907809	0.91[ASN][1000 genomes]
rs6916206	0.94[ASN][1000 genomes]
rs6921542	0.99[ASN][1000 genomes]
rs6926372	0.97[ASN][1000 genomes]
rs7763960	0.98[ASN][1000 genomes]
rs7770892	0.99[ASN][1000 genomes]
rs9321264	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9372986	0.91[ASN][1000 genomes]
rs9372987	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9372989	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9375784	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9375785	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375787	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9375788	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9375789	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9375790	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9375794	0.98[ASN][1000 genomes]
rs9375795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9375796	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9375797	0.99[ASN][1000 genomes]
rs9388873	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9388876	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388880	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9398967	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9398969	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398970	0.99[ASN][1000 genomes]
rs9398971	0.99[ASN][1000 genomes]
rs9398972	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398973	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398975	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9398976	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9402301	0.85[ASN][1000 genomes]
rs9402306	0.86[ASN][1000 genomes]
rs9402310	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9402313	0.99[ASN][1000 genomes]
rs9402314	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9483210	0.97[ASN][1000 genomes]
rs9492790	0.95[ASN][1000 genomes]
rs9492792	0.99[ASN][1000 genomes]
rs951251	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs954919	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28812545	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131318800-131329200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:131322600-131333200	Weak transcription	Pancreas	Pancrea
3	chr6:131324000-131334200	Weak transcription	Small Intestine	intestine
4	chr6:131326000-131329400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:131326000-131333800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:131327000-131331200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:131327000-131333200	Weak transcription	Ovary	ovary
8	chr6:131327800-131329400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
9	chr6:131327800-131330600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr6:131327800-131331200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:131328000-131329800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:131328000-131329800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr6:131328000-131329800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:131328000-131329800	ZNF genes & repeats	Brain Substantia Nigra	brain
15	chr6:131328000-131329800	ZNF genes & repeats	Fetal Stomach	stomach
16	chr6:131328000-131330000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:131328000-131330200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr6:131328000-131330200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:131328000-131330200	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr6:131328200-131329800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:131328400-131329600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
22	chr6:131328400-131332200	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:131328400-131334800	Weak transcription	A549	lung
24	chr6:131328800-131329400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr6:131328800-131330200	ZNF genes & repeats	Fetal Intestine Small	intestine

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