Variant report

Variant	rs1811949
Chromosome Location	chr6:131299179-131299180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1043596	0.80[CEU][hapmap]
rs12194612	0.80[CEU][hapmap]
rs12525104	0.89[ASN][1000 genomes]
rs12525986	1.00[ASN][1000 genomes]
rs13437326	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17178878	0.95[ASN][1000 genomes]
rs17179123	0.95[ASN][1000 genomes]
rs17180687	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17180867	0.89[ASN][1000 genomes]
rs17770255	1.00[JPT][hapmap]
rs17784418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17784472	0.89[ASN][1000 genomes]
rs17784896	0.87[ASN][1000 genomes]
rs17785507	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1977576	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2095961	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2297853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28482889	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs34899420	0.95[ASN][1000 genomes]
rs3777465	0.84[AFR][1000 genomes]
rs45550834	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4895901	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4895903	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs4895904	0.89[ASN][1000 genomes]
rs4895906	0.89[ASN][1000 genomes]
rs4895907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4895908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4895909	0.89[ASN][1000 genomes]
rs4897473	0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4897478	0.95[ASN][1000 genomes]
rs4897484	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4897485	1.00[JPT][hapmap]
rs4897486	0.89[ASN][1000 genomes]
rs4897487	0.89[ASN][1000 genomes]
rs4897489	0.89[ASN][1000 genomes]
rs4897491	0.89[ASN][1000 genomes]
rs55898152	0.89[ASN][1000 genomes]
rs56163502	0.89[ASN][1000 genomes]
rs56173113	1.00[ASN][1000 genomes]
rs56201801	0.89[ASN][1000 genomes]
rs62422362	0.89[ASN][1000 genomes]
rs62422365	0.89[ASN][1000 genomes]
rs62422380	0.89[ASN][1000 genomes]
rs62423581	1.00[ASN][1000 genomes]
rs62423598	0.95[ASN][1000 genomes]
rs6906059	0.84[ASN][1000 genomes]
rs6906478	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6908980	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6910656	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6916024	0.89[ASN][1000 genomes]
rs6921396	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922177	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6926250	1.00[CHB][hapmap]
rs6928920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6931804	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6935108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7741148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755720	1.00[ASN][1000 genomes]
rs7758016	0.87[ASN][1000 genomes]
rs7761311	0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7769678	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771543	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872576	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs915172	0.80[CEU][hapmap]
rs9321263	0.96[CEU][hapmap];0.82[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs933063	0.84[CEU][hapmap]
rs9372985	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9385568	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388872	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9402303	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9483206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs954211	0.82[CHB][hapmap];1.00[JPT][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1811949	EPB41L2	cis	parietal	SCAN
rs1811949	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 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	chr6:131291600-131299200	Weak transcription	Pancreas	Pancrea
6	chr6:131291600-131299400	Weak transcription	Right Atrium	heart
7	chr6:131291800-131306200	Weak transcription	Fetal Intestine Small	intestine
8	chr6:131292000-131299400	Weak transcription	Brain Anterior Caudate	brain
9	chr6:131292400-131299600	Weak transcription	Fetal Stomach	stomach
10	chr6:131292400-131299800	Weak transcription	Left Ventricle	heart
11	chr6:131292400-131306400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:131292600-131299400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:131292800-131299200	Weak transcription	Fetal Lung	lung
14	chr6:131292800-131299400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:131292800-131302000	Weak transcription	NHLF	lung
16	chr6:131295400-131299800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:131295400-131301400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:131295600-131299800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:131295600-131300000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:131295600-131301400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:131295600-131301400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:131296400-131302200	Weak transcription	HSMM	muscle
23	chr6:131296600-131299600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:131296800-131300000	Weak transcription	HUVEC	blood vessel
25	chr6:131296800-131302600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:131297600-131302800	Enhancers	Brain Cingulate Gyrus	brain
27	chr6:131298000-131299400	Enhancers	Thymus	Thymus
28	chr6:131298000-131300400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr6:131298000-131301600	Enhancers	Brain Substantia Nigra	brain
30	chr6:131298000-131302000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:131298000-131302400	Weak transcription	NHDF-Ad	bronchial
32	chr6:131298200-131299200	Weak transcription	K562	blood
33	chr6:131298200-131300200	Enhancers	Brain Hippocampus Middle	brain
34	chr6:131298400-131300200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:131298400-131300400	Enhancers	Colon Smooth Muscle	Colon
36	chr6:131298400-131300800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:131298600-131300800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:131298800-131314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:131299000-131306200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr6:131299000-131309800	Weak transcription	HepG2	liver

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