Variant report

Variant	rs11123175
Chromosome Location	chr2:114044712-114044713
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	chr2:114034404..114036046-chr2:114042741..114044743,2	K562	blood:

Variant related genes	Relation type
ENSG00000125618	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10201645	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10209795	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123174	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11679928	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11683025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687706	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11688620	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11889663	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12467534	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12989922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13002606	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13022812	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385108	0.85[AMR][1000 genomes]
rs13388160	0.87[AMR][1000 genomes]
rs17626434	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17626470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34657362	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4091938	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4848324	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4848325	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4848326	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4848327	1.00[CEU][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4848328	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4848329	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848330	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4849191	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849192	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4849194	0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6753679	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6760462	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6760648	0.80[EUR][1000 genomes]
rs7587376	0.81[AMR][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	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998204	chr2:114023917-114075446	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv961872	chr2:114041837-114061641	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2762785	chr2:114044712-114081784	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11123175	AC016683.6	cis	lung	GTEx
rs11123175	PAX8	cis	Adipose Subcutaneous	GTEx
rs11123175	AC016683.6	cis	Muscle Skeletal	GTEx
rs11123175	AC016683.6	cis	Esophagus Mucosa	GTEx
rs11123175	PAX8	cis	lung	GTEx
rs11123175	PAX8	cis	multi-tissue	Pritchard
rs11123175	AC016683.6	cis	Adipose Subcutaneous	GTEx
rs11123175	AC016683.6	cis	Whole Blood	GTEx
rs11123175	AC016683.6	cis	Nerve Tibial	GTEx
rs11123175	PAX8	cis	Esophagus Muscularis	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114040600-114047000	Enhancers	Liver	Liver
2	chr2:114040600-114047800	Weak transcription	Gastric	stomach
3	chr2:114042200-114045400	Weak transcription	Stomach Mucosa	stomach
4	chr2:114042200-114046000	Weak transcription	Brain Anterior Caudate	brain
5	chr2:114042200-114046200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:114042400-114045000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:114042400-114045200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:114042600-114048600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:114043200-114048800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:114043400-114047800	Weak transcription	Lung	lung
11	chr2:114043600-114045400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:114043600-114045400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:114043600-114046000	Enhancers	HepG2	liver
14	chr2:114043600-114048600	Weak transcription	NHEK	skin
15	chr2:114043800-114044800	Weak transcription	Fetal Intestine Large	intestine
16	chr2:114043800-114044800	Weak transcription	A549	lung
17	chr2:114043800-114045000	Weak transcription	HMEC	breast
18	chr2:114043800-114045600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:114043800-114045800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:114043800-114046000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:114043800-114048600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:114044200-114046400	Weak transcription	Pancreas	Pancrea
23	chr2:114044600-114049200	Enhancers	Fetal Intestine Small	intestine

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