Variant report

Variant	rs56201801
Chromosome Location	chr6:131336787-131336788
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs12525104	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525986	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13437326	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17178878	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17179123	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17180687	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17180867	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17784418	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17784472	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17784896	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17785507	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1811949	0.89[ASN][1000 genomes]
rs1977576	0.95[ASN][1000 genomes]
rs2297853	0.89[ASN][1000 genomes]
rs28482889	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34899420	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895901	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895903	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895904	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895906	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895907	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895908	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895909	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897477	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4897478	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4897483	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897484	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897485	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897486	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897487	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897489	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897491	1.00[ASN][1000 genomes]
rs55898152	1.00[ASN][1000 genomes]
rs56163502	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173113	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58503799	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62422362	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422365	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422380	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62423581	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62423597	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62423598	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6906059	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6916024	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921396	0.89[ASN][1000 genomes]
rs6922045	0.89[ASN][1000 genomes]
rs6928920	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935108	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741148	0.89[ASN][1000 genomes]
rs7755720	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7758016	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7769678	0.89[ASN][1000 genomes]
rs7771543	0.89[ASN][1000 genomes]
rs9385568	0.89[ASN][1000 genomes]
rs9402303	0.89[ASN][1000 genomes]
rs9483206	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954211	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[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
rs56201801	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131329800-131347400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:131332200-131345400	Weak transcription	Left Ventricle	heart
3	chr6:131332800-131339600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:131333600-131339200	Weak transcription	Pancreas	Pancrea
5	chr6:131333800-131337400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:131334000-131337000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:131334000-131337400	Enhancers	Fetal Kidney	kidney
8	chr6:131334400-131337200	Weak transcription	Small Intestine	intestine
9	chr6:131334400-131337400	Enhancers	HMEC	breast
10	chr6:131334600-131338000	Enhancers	Fetal Stomach	stomach
11	chr6:131334600-131338200	Enhancers	HepG2	liver
12	chr6:131334600-131338200	Enhancers	Osteobl	bone
13	chr6:131334600-131339000	Enhancers	Rectal Smooth Muscle	rectum
14	chr6:131334800-131336800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:131334800-131336800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:131334800-131337400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:131334800-131337600	Enhancers	A549	lung
18	chr6:131334800-131342800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:131335000-131336800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:131335000-131337000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:131335000-131337200	Weak transcription	HSMMtube	muscle
22	chr6:131335000-131337800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:131335000-131338000	Enhancers	HSMM	muscle
24	chr6:131335200-131336800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:131335200-131336800	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:131335200-131336800	Enhancers	Brain Substantia Nigra	brain
27	chr6:131335200-131337200	Enhancers	NHLF	lung
28	chr6:131335200-131337800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:131335200-131337800	Enhancers	Adipose Nuclei	Adipose
30	chr6:131335200-131337800	Enhancers	Fetal Lung	lung
31	chr6:131335200-131338000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:131335200-131338000	Enhancers	Brain Hippocampus Middle	brain
33	chr6:131335200-131338000	Enhancers	NHDF-Ad	bronchial
34	chr6:131335200-131343200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:131335400-131336800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:131335400-131337000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:131335400-131337000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:131335400-131337000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:131335400-131337000	Weak transcription	NH-A	brain
40	chr6:131335400-131337200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr6:131335400-131338000	Enhancers	HUVEC	blood vessel
42	chr6:131335400-131338200	Enhancers	Colon Smooth Muscle	Colon
43	chr6:131335600-131338000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:131335600-131345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:131335800-131336800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:131335800-131337000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:131335800-131337000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:131335800-131337000	Enhancers	Brain Anterior Caudate	brain
49	chr6:131335800-131337000	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:131336000-131337000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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