Variant report

Variant	rs9372986
Chromosome Location	chr6:131333206-131333207
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10872375	0.87[ASN][1000 genomes]
rs12195366	0.81[ASN][1000 genomes]
rs12203760	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12214021	0.89[ASN][1000 genomes]
rs1569195	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17059954	0.99[ASN][1000 genomes]
rs1976981	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2151068	0.91[ASN][1000 genomes]
rs2178282	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28812545	0.91[ASN][1000 genomes]
rs4259270	0.91[ASN][1000 genomes]
rs4498389	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6901548	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6902930	0.91[ASN][1000 genomes]
rs6903705	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6905151	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6907809	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916206	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6921542	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6926372	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7763960	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7770892	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9372987	0.91[ASN][1000 genomes]
rs9372989	0.89[ASN][1000 genomes]
rs9375790	0.86[ASN][1000 genomes]
rs9375794	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9375795	0.99[ASN][1000 genomes]
rs9375796	0.89[ASN][1000 genomes]
rs9375797	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9388873	0.89[ASN][1000 genomes]
rs9388876	0.91[ASN][1000 genomes]
rs9398969	0.91[ASN][1000 genomes]
rs9398970	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9398971	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9398972	0.91[ASN][1000 genomes]
rs9398973	0.91[ASN][1000 genomes]
rs9402301	0.90[EUR][1000 genomes]
rs9402306	0.91[EUR][1000 genomes]
rs9402310	0.88[ASN][1000 genomes]
rs9402313	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9402314	0.89[ASN][1000 genomes]
rs9483210	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9492790	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9492792	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs951251	0.87[ASN][1000 genomes]
rs954919	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[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
rs9372986	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131324000-131334200	Weak transcription	Small Intestine	intestine
2	chr6:131326000-131333800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:131328400-131334800	Weak transcription	A549	lung
4	chr6:131329600-131333800	Weak transcription	Brain Angular Gyrus	brain
5	chr6:131329800-131334600	Weak transcription	Fetal Stomach	stomach
6	chr6:131329800-131334800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:131329800-131334800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:131329800-131336400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:131329800-131347400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:131330000-131335000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:131330000-131335000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:131330200-131334800	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:131330200-131335400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:131330400-131333600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:131330400-131336400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:131330600-131334400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:131330800-131334600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:131331200-131334800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:131331400-131333800	Weak transcription	Fetal Lung	lung
20	chr6:131331400-131334800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:131332200-131334600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:131332200-131345400	Weak transcription	Left Ventricle	heart
23	chr6:131332400-131333800	Weak transcription	Adipose Nuclei	Adipose
24	chr6:131332400-131333800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:131332400-131334800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:131332800-131334600	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:131332800-131339600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:131333000-131334400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:131333000-131334800	Weak transcription	Brain Substantia Nigra	brain
30	chr6:131333200-131333600	Enhancers	Ovary	ovary
31	chr6:131333200-131333600	Enhancers	Pancreas	Pancrea

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