Variant report

Variant	rs9321266
Chromosome Location	chr6:131316458-131316459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:131314347..131316651-chr6:131330693..131332360,2	K562	blood:
2	chr6:131315063..131319748-chr6:131319876..131324209,7	MCF-7	breast:
3	chr6:131315398..131317162-chr6:131319335..131320916,2	K562	blood:

Variant related genes	Relation type
ENSG00000079819	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1338904	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6921207	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7752292	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7758804	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7774648	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9375791	0.91[EUR][1000 genomes];0.90[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
rs9321266	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131306800-131317000	Weak transcription	Fetal Intestine Small	intestine
2	chr6:131306800-131317200	Weak transcription	NHLF	lung
3	chr6:131306800-131317400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:131306800-131320000	Weak transcription	Left Ventricle	heart
5	chr6:131309200-131317200	Weak transcription	Adipose Nuclei	Adipose
6	chr6:131310400-131316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:131311400-131318400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:131312400-131317000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:131312400-131318400	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:131312600-131317400	Weak transcription	Fetal Stomach	stomach
11	chr6:131312600-131321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:131313000-131318400	Weak transcription	Fetal Kidney	kidney
13	chr6:131313200-131317000	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:131313400-131316800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:131313600-131316800	Weak transcription	Fetal Lung	lung
16	chr6:131313600-131316800	Weak transcription	Osteobl	bone
17	chr6:131313600-131317400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:131313800-131316800	Weak transcription	NHEK	skin
19	chr6:131313800-131317600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:131314000-131316800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:131314000-131317600	Enhancers	Placenta	Placenta
22	chr6:131314000-131318000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:131314400-131317400	Weak transcription	HSMM	muscle
24	chr6:131314400-131318000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:131314800-131322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:131314800-131325000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:131315200-131321400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:131315400-131316800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr6:131315400-131318000	Weak transcription	A549	lung
30	chr6:131315400-131318600	Weak transcription	Right Atrium	heart
31	chr6:131315400-131320000	Weak transcription	Right Ventricle	heart
32	chr6:131315600-131316600	Weak transcription	HUVEC	blood vessel
33	chr6:131315600-131316800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:131315600-131316800	Weak transcription	Fetal Intestine Large	intestine
35	chr6:131315600-131316800	Weak transcription	Gastric	stomach
36	chr6:131315600-131317400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:131315600-131317400	Weak transcription	Small Intestine	intestine
38	chr6:131315600-131318200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:131315600-131321800	Weak transcription	Pancreas	Pancrea
40	chr6:131315800-131317000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:131315800-131317000	Weak transcription	Brain Anterior Caudate	brain
42	chr6:131315800-131317200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:131315800-131317200	Weak transcription	HepG2	liver
44	chr6:131315800-131317400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:131315800-131317600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:131315800-131317800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr6:131315800-131317800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr6:131315800-131317800	Enhancers	K562	blood
49	chr6:131315800-131318000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr6:131315800-131318400	Weak transcription	H1 Cell Line	embryonic stem cell

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