Variant report

Variant	rs58503799
Chromosome Location	chr6:131350049-131350050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131345332..131348195-chr6:131348850..131352317,3	MCF-7	breast:
2	chr6:131303458..131306255-chr6:131349749..131352593,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12525104	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12525986	0.89[EUR][1000 genomes]
rs13437326	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17178878	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17179123	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17180687	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17180867	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17784418	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17784472	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17784896	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17785507	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2095961	0.91[ASN][1000 genomes]
rs28482889	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34899420	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs45550834	0.89[ASN][1000 genomes]
rs4895901	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4895903	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895904	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895906	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895907	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895908	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895909	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897478	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4897483	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897484	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897485	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897486	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897487	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897489	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897491	0.81[ASN][1000 genomes]
rs4897492	0.93[ASN][1000 genomes]
rs55898152	0.81[ASN][1000 genomes]
rs56163502	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56173113	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56201801	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62422362	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62422365	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62422380	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62423581	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62423597	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62423598	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6906059	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6910656	0.91[ASN][1000 genomes]
rs6916024	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6922177	0.91[ASN][1000 genomes]
rs6928920	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6935108	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7755720	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7758016	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7761311	0.95[ASN][1000 genomes]
rs9321263	0.91[ASN][1000 genomes]
rs9372985	0.91[ASN][1000 genomes]
rs9388872	0.91[ASN][1000 genomes]
rs9483206	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs954211	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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
rs58503799	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131337800-131351000	Weak transcription	Stomach Mucosa	stomach
2	chr6:131345600-131350400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:131345600-131350600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:131345600-131350800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:131345600-131351000	Weak transcription	Right Ventricle	heart
6	chr6:131345800-131350200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:131345800-131350200	Weak transcription	HSMM	muscle
8	chr6:131345800-131350600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:131345800-131350600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:131345800-131350600	Weak transcription	NHEK	skin
11	chr6:131345800-131350800	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:131345800-131351000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:131345800-131351000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:131345800-131351200	Weak transcription	Right Atrium	heart
15	chr6:131345800-131352000	Weak transcription	Lung	lung
16	chr6:131345800-131353200	Weak transcription	Ovary	ovary
17	chr6:131345800-131353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:131345800-131357600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:131346000-131350200	Weak transcription	NH-A	brain
20	chr6:131346000-131350400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:131346000-131351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:131346000-131351200	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:131346000-131375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:131346200-131351200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:131347000-131350800	Weak transcription	NHLF	lung
26	chr6:131347600-131350600	Weak transcription	Osteobl	bone
27	chr6:131347600-131351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:131347800-131350800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:131347800-131350800	Weak transcription	Fetal Kidney	kidney
30	chr6:131348000-131350200	Weak transcription	Brain Substantia Nigra	brain
31	chr6:131348000-131350800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:131348000-131350800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:131348000-131351000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:131348000-131351000	Weak transcription	Small Intestine	intestine
35	chr6:131348000-131351200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:131348000-131351200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:131348600-131351600	Enhancers	Adipose Nuclei	Adipose
38	chr6:131348800-131350200	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:131348800-131351000	Weak transcription	Psoas Muscle	Psoas
40	chr6:131348800-131351200	Weak transcription	Left Ventricle	heart
41	chr6:131348800-131351400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:131349000-131358800	Weak transcription	Pancreas	Pancrea
43	chr6:131349200-131350800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:131349400-131351400	Enhancers	Brain Angular Gyrus	brain
45	chr6:131349600-131351400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr6:131350000-131350200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:131350000-131350200	Enhancers	Brain Cingulate Gyrus	brain
48	chr6:131350000-131350800	Enhancers	GM12878-XiMat	blood
49	chr6:131350000-131351200	Enhancers	NHDF-Ad	bronchial
50	chr6:131350000-131351400	Enhancers	Rectal Smooth Muscle	rectum

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