Variant report

Variant	rs1123181
Chromosome Location	chr6:161394053-161394054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161393062..161395612-chr6:161411949..161414335,2	K562	blood:
2	chr6:161393815..161395750-chr6:161411160..161414209,3	MCF-7	breast:
3	chr6:161393152..161396048-chr6:161411470..161414358,4	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction
ENSG00000272841	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1123179	1.00[ASN][1000 genomes]
rs1123180	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12175972	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12661018	0.91[ASN][1000 genomes]
rs13193780	0.88[ASN][1000 genomes]
rs13195467	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1536244	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1814458	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099938	0.90[ASN][1000 genomes]
rs7760467	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9346843	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9347473	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9347474	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9347475	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9355323	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9355859	0.84[ASN][1000 genomes]
rs9355860	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9364582	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9364583	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9365237	0.85[ASN][1000 genomes]
rs9365238	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9365239	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1123181	SOD2	cis	parietal	SCAN
rs1123181	MAP3K4	cis	lymphoblastoid	seeQTL
rs1123181	TAGAP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161390800-161394200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:161392200-161394400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:161392200-161394400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:161392200-161394400	Enhancers	NHDF-Ad	bronchial
5	chr6:161392200-161396400	Enhancers	HSMM	muscle
6	chr6:161392400-161394400	Weak transcription	Pancreas	Pancrea
7	chr6:161392400-161396400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:161392600-161395000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:161392600-161395800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:161392600-161396000	Enhancers	NH-A	brain
11	chr6:161392600-161396200	Enhancers	NHEK	skin
12	chr6:161392600-161396400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:161392800-161396400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:161392800-161396400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:161392800-161396600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:161392800-161396600	Enhancers	HMEC	breast
17	chr6:161393000-161395800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:161393000-161396400	Enhancers	Fetal Muscle Leg	muscle
19	chr6:161393000-161396400	Enhancers	NHLF	lung
20	chr6:161393200-161394200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:161393200-161394200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:161393200-161394600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:161393200-161395400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr6:161393200-161397000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:161393400-161396200	Enhancers	Placenta	Placenta
26	chr6:161393600-161394400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:161393600-161395000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:161393600-161395000	Weak transcription	HSMMtube	muscle
29	chr6:161393800-161395200	Enhancers	Fetal Brain Male	brain
30	chr6:161393800-161396200	Enhancers	K562	blood
31	chr6:161393800-161396400	Enhancers	Fetal Heart	heart
32	chr6:161393800-161396400	Enhancers	Left Ventricle	heart
33	chr6:161393800-161396400	Enhancers	Ovary	ovary
34	chr6:161394000-161394200	Enhancers	Esophagus	oesophagus
35	chr6:161394000-161394400	Weak transcription	Osteobl	bone
36	chr6:161394000-161394600	Enhancers	Fetal Intestine Small	intestine
37	chr6:161394000-161394600	Enhancers	Small Intestine	intestine
38	chr6:161394000-161395600	Enhancers	Fetal Intestine Large	intestine
39	chr6:161394000-161396000	Enhancers	Right Atrium	heart
40	chr6:161394000-161396200	Enhancers	Right Ventricle	heart
41	chr6:161394000-161396400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:161394000-161396400	Enhancers	Adipose Nuclei	Adipose
43	chr6:161394000-161396400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr6:161394000-161396600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr6:161394000-161396600	Enhancers	Fetal Lung	lung

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