Variant report

Variant	rs12478795
Chromosome Location	chr2:114019951-114019952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1021409	0.88[ASN][1000 genomes]
rs11685107	0.81[ASN][1000 genomes]
rs11685421	0.81[ASN][1000 genomes]
rs11691437	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471722	0.88[ASN][1000 genomes]
rs12476331	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12999288	0.88[ASN][1000 genomes]
rs13015130	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1900216	1.00[ASN][1000 genomes]
rs35006857	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs877202	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895416	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	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

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs12478795	AC016683.6	cis	Whole Blood	GTEx
rs12478795	AC016683.6	cis	Adipose Subcutaneous	GTEx
rs12478795	AC016683.6	cis	lung	GTEx
rs12478795	AC016683.6	cis	Heart Left Ventricle	GTEx
rs12478795	LOC654433	Cis_1M	lymphoblastoid	RTeQTL
rs12478795	PAX8	cis	lung	GTEx
rs12478795	AC016683.6	cis	Muscle Skeletal	GTEx
rs12478795	AC016683.6	cis	Artery Tibial	GTEx
rs12478795	PAX8	cis	Nerve Tibial	GTEx
rs12478795	AC016683.6	cis	Esophagus Muscularis	GTEx
rs12478795	PAX8	cis	Whole Blood	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113998200-114020600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:113999600-114028400	Weak transcription	Ovary	ovary
3	chr2:114010200-114030400	Weak transcription	GM12878-XiMat	blood
4	chr2:114010400-114022400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:114013600-114020000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:114015200-114022400	Weak transcription	Fetal Thymus	thymus
7	chr2:114015200-114022800	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:114015800-114023600	Weak transcription	HSMM	muscle
9	chr2:114016200-114020400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:114016200-114022200	Weak transcription	Primary T cells from cord blood	blood
11	chr2:114016200-114023600	Weak transcription	HSMMtube	muscle
12	chr2:114016200-114028000	Weak transcription	Fetal Brain Female	brain
13	chr2:114016400-114026000	Weak transcription	Fetal Heart	heart
14	chr2:114017200-114020800	Weak transcription	Dnd41	blood
15	chr2:114017200-114021200	Weak transcription	Lung	lung
16	chr2:114017600-114020000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:114017600-114021000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:114017600-114021200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:114018600-114020000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:114018800-114023800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:114019000-114022600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:114019200-114021000	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:114019200-114021000	Weak transcription	Placenta	Placenta
24	chr2:114019200-114021600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:114019200-114022200	Weak transcription	Fetal Kidney	kidney
26	chr2:114019200-114024000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:114019200-114026800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:114019400-114020000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:114019400-114021200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:114019400-114021200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:114019400-114022400	Weak transcription	Adipose Nuclei	Adipose
32	chr2:114019400-114028200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:114019600-114021000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:114019600-114021200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:114019600-114026000	Weak transcription	Spleen	Spleen

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