Variant report

Variant	rs6916024
Chromosome Location	chr6:131381579-131381580
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	chr6:131380112..131382721-chr6:131384592..131387517,3	K562	blood:
2	chr6:131217137..131218661-chr6:131380845..131382690,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12525104	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525986	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13437326	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17178878	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17179123	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17180687	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17180867	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17784418	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17784472	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17784896	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17785507	0.88[AMR][1000 genomes];1.00[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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34899420	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895901	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895903	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895904	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895906	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895907	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895908	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895909	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897478	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4897483	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897484	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897485	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897486	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897487	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897489	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897491	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4897492	0.85[AMR][1000 genomes]
rs4897496	0.80[AFR][1000 genomes]
rs55898152	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56163502	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173113	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56201801	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58503799	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62422362	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422365	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422380	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62423581	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62423597	0.95[EUR][1000 genomes]
rs62423598	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6906059	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6921396	0.89[ASN][1000 genomes]
rs6922045	0.89[ASN][1000 genomes]
rs6928920	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935108	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741148	0.89[ASN][1000 genomes]
rs7755720	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7758016	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[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	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954211	0.94[AMR][1000 genomes];0.98[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
rs6916024	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131375800-131382400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:131376000-131382600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:131376400-131381800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:131377000-131381800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:131377200-131381600	Weak transcription	Fetal Intestine Small	intestine
6	chr6:131377200-131382600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:131377200-131382600	Weak transcription	Primary T cells from cord blood	blood
8	chr6:131377400-131382400	Weak transcription	Fetal Intestine Large	intestine
9	chr6:131377400-131382600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:131377400-131382600	Weak transcription	Aorta	Aorta
11	chr6:131378200-131382200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:131378600-131381600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:131378600-131382400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:131380200-131381600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:131380600-131381600	Enhancers	Brain Angular Gyrus	brain
16	chr6:131380600-131381600	Enhancers	Brain Hippocampus Middle	brain
17	chr6:131380600-131381600	Enhancers	HepG2	liver
18	chr6:131380600-131381800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:131380600-131381800	Enhancers	Adipose Nuclei	Adipose
20	chr6:131380600-131381800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr6:131380600-131382000	Flanking Active TSS	A549	lung
22	chr6:131380600-131382200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:131380600-131382200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:131380600-131382200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:131380600-131382200	Enhancers	NH-A	brain
26	chr6:131380600-131382400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:131380800-131381600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:131380800-131381600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:131380800-131382200	Enhancers	HSMM	muscle
30	chr6:131380800-131382200	Enhancers	HSMMtube	muscle
31	chr6:131380800-131382400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:131380800-131383000	Flanking Active TSS	NHDF-Ad	bronchial
33	chr6:131380800-131383200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:131381000-131381600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:131381000-131382200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:131381000-131382200	Weak transcription	Small Intestine	intestine
37	chr6:131381000-131382200	Enhancers	HMEC	breast
38	chr6:131381000-131382400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr6:131381000-131382400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:131381000-131382800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:131381000-131383200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:131381200-131381600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:131381200-131381600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:131381200-131381600	Enhancers	Brain Substantia Nigra	brain
45	chr6:131381200-131381600	Enhancers	Osteobl	bone
46	chr6:131381200-131381800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr6:131381200-131382200	Enhancers	Brain Cingulate Gyrus	brain
48	chr6:131381200-131382200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:131381200-131382200	Enhancers	Fetal Muscle Leg	muscle
50	chr6:131381200-131382200	Weak transcription	Fetal Stomach	stomach

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