Variant report

Variant	rs11691437
Chromosome Location	chr2:114022856-114022857
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1021409	0.88[ASN][1000 genomes]
rs11685107	0.81[ASN][1000 genomes]
rs11685421	0.81[ASN][1000 genomes]
rs12471722	0.88[ASN][1000 genomes]
rs12476056	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs12476331	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478795	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478858	1.00[JPT][hapmap]
rs12999288	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13015130	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1900216	1.00[ASN][1000 genomes]
rs35006857	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848321	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716573	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs708633	1.00[JPT][hapmap]
rs877202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895415	1.00[JPT][hapmap]
rs895416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv535895	chr2:114015492-114037018	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11691437	AC016683.6	cis	Artery Tibial	GTEx
rs11691437	AC016683.6	cis	Heart Left Ventricle	GTEx
rs11691437	AC016683.6	cis	Whole Blood	GTEx
rs11691437	PAX8	cis	lung	GTEx
rs11691437	LOC654433	Cis_1M	lymphoblastoid	RTeQTL
rs11691437	AC016683.6	cis	Adipose Subcutaneous	GTEx
rs11691437	PAX8	cis	Nerve Tibial	GTEx
rs11691437	PAX8	cis	Whole Blood	GTEx
rs11691437	AC016683.6	cis	lung	GTEx
rs11691437	AC016683.6	cis	Muscle Skeletal	GTEx
rs11691437	AC016683.6	cis	Esophagus Muscularis	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113999600-114028400	Weak transcription	Ovary	ovary
2	chr2:114010200-114030400	Weak transcription	GM12878-XiMat	blood
3	chr2:114015800-114023600	Weak transcription	HSMM	muscle
4	chr2:114016200-114023600	Weak transcription	HSMMtube	muscle
5	chr2:114016200-114028000	Weak transcription	Fetal Brain Female	brain
6	chr2:114016400-114026000	Weak transcription	Fetal Heart	heart
7	chr2:114018800-114023800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:114019200-114024000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:114019200-114026800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:114019400-114028200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:114019600-114026000	Weak transcription	Spleen	Spleen
12	chr2:114020000-114027800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:114020400-114023800	Enhancers	Liver	Liver
14	chr2:114020600-114023000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:114021000-114024200	Strong transcription	Placenta	Placenta
16	chr2:114021200-114024000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:114021200-114024000	Strong transcription	Lung	lung
18	chr2:114021200-114028200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr2:114021400-114023600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:114021400-114024800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:114021600-114026200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:114021600-114028200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:114021800-114024000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:114022000-114024600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:114022200-114023000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:114022200-114023400	Enhancers	Pancreas	Pancrea
27	chr2:114022200-114026400	Strong transcription	Primary T cells from cord blood	blood
28	chr2:114022200-114027600	Genic enhancers	Fetal Kidney	kidney
29	chr2:114022400-114023400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:114022400-114023800	Strong transcription	Adipose Nuclei	Adipose
31	chr2:114022400-114025000	Strong transcription	Fetal Thymus	thymus
32	chr2:114022800-114023200	Enhancers	Colon Smooth Muscle	Colon
33	chr2:114022800-114023200	Enhancers	Fetal Intestine Large	intestine
34	chr2:114022800-114024200	Genic enhancers	Fetal Muscle Leg	muscle

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