Variant report

Variant	rs7755720
Chromosome Location	chr6:131300777-131300778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs12525104	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12525986	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437326	0.89[EUR][1000 genomes]
rs17178878	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17179123	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17180687	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17180867	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17770255	0.80[AMR][1000 genomes]
rs17784418	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17784472	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17784896	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17785507	0.89[EUR][1000 genomes]
rs1811949	1.00[ASN][1000 genomes]
rs1977576	0.95[ASN][1000 genomes]
rs2095961	0.82[ASN][1000 genomes]
rs2297853	1.00[ASN][1000 genomes]
rs28482889	0.89[EUR][1000 genomes]
rs34899420	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895901	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895903	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4895904	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4895906	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4895907	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4895908	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4895909	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897477	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4897478	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4897483	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4897484	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897485	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4897486	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897487	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897489	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897491	0.89[ASN][1000 genomes]
rs55898152	0.89[ASN][1000 genomes]
rs56163502	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56173113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56201801	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58503799	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62422362	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62422365	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62422380	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62423581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62423597	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62423598	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6906059	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6910656	0.82[ASN][1000 genomes]
rs6916024	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6921396	1.00[ASN][1000 genomes]
rs6922045	1.00[ASN][1000 genomes]
rs6922177	0.82[ASN][1000 genomes]
rs6926250	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6928920	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6931804	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6935108	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7741148	1.00[ASN][1000 genomes]
rs7758016	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7769678	1.00[ASN][1000 genomes]
rs7771543	1.00[ASN][1000 genomes]
rs9321263	0.82[ASN][1000 genomes]
rs9372985	0.82[ASN][1000 genomes]
rs9385568	1.00[ASN][1000 genomes]
rs9388872	0.82[ASN][1000 genomes]
rs9402303	1.00[ASN][1000 genomes]
rs9483206	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs954211	0.84[AMR][1000 genomes];0.88[EUR][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
rs7755720	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131253000-131302200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:131272200-131301000	Weak transcription	Placenta	Placenta
3	chr6:131288200-131306600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:131289600-131300800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:131291800-131306200	Weak transcription	Fetal Intestine Small	intestine
6	chr6:131292400-131306400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:131292800-131302000	Weak transcription	NHLF	lung
8	chr6:131295400-131301400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:131295600-131301400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:131295600-131301400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr6:131296400-131302200	Weak transcription	HSMM	muscle
12	chr6:131296800-131302600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:131297600-131302800	Enhancers	Brain Cingulate Gyrus	brain
14	chr6:131298000-131301600	Enhancers	Brain Substantia Nigra	brain
15	chr6:131298000-131302000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:131298000-131302400	Weak transcription	NHDF-Ad	bronchial
17	chr6:131298400-131300800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:131298600-131300800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:131298800-131314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:131299000-131306200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:131299000-131309800	Weak transcription	HepG2	liver
22	chr6:131299200-131301200	Enhancers	K562	blood
23	chr6:131299200-131304600	Enhancers	Fetal Lung	lung
24	chr6:131299400-131301000	Weak transcription	Thymus	Thymus
25	chr6:131299400-131301800	Enhancers	Fetal Muscle Leg	muscle
26	chr6:131299400-131303600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:131299800-131302200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:131300000-131301000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:131300000-131301800	Weak transcription	Psoas Muscle	Psoas
30	chr6:131300000-131302400	Weak transcription	Adipose Nuclei	Adipose
31	chr6:131300200-131301200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:131300200-131301200	Weak transcription	Brain Hippocampus Middle	brain
33	chr6:131300200-131301200	Weak transcription	Fetal Kidney	kidney
34	chr6:131300200-131302400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:131300200-131302600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:131300200-131304000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:131300400-131301000	Weak transcription	Spleen	Spleen
38	chr6:131300400-131301200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:131300400-131301800	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:131300400-131301800	Weak transcription	Fetal Stomach	stomach
41	chr6:131300400-131301800	Weak transcription	Ovary	ovary
42	chr6:131300400-131302600	Weak transcription	Brain Angular Gyrus	brain
43	chr6:131300400-131302600	Weak transcription	Brain Anterior Caudate	brain
44	chr6:131300400-131312200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:131300400-131314600	Weak transcription	Small Intestine	intestine

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