Variant report

Variant	rs12497012
Chromosome Location	chr3:111470648-111470649
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10212300	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10470303	0.84[ASN][1000 genomes]
rs10934106	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10934107	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11710738	0.87[ASN][1000 genomes]
rs12490166	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12490595	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12496925	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12496971	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13069980	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13074817	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13079085	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4284954	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4431081	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4682057	0.91[ASN][1000 genomes]
rs4682305	0.87[ASN][1000 genomes]
rs55938712	0.81[ASN][1000 genomes]
rs62273780	0.87[ASN][1000 genomes]
rs6438008	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6438009	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6764720	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6768713	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6777540	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6784753	0.90[ASN][1000 genomes]
rs6786386	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6786612	0.85[ASN][1000 genomes]
rs6790072	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6790079	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6792493	0.80[ASN][1000 genomes]
rs6802995	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7427201	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7609653	0.92[ASN][1000 genomes]
rs7614443	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9818574	0.84[ASN][1000 genomes]
rs9823974	0.83[ASN][1000 genomes]
rs9825915	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9834030	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9838371	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9863403	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9868171	0.87[ASN][1000 genomes]
rs9870823	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111466200-111471400	Enhancers	NHEK	skin
2	chr3:111466400-111471200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:111466400-111471400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:111466600-111471000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:111466800-111471200	Enhancers	HSMM	muscle
6	chr3:111467400-111470800	Weak transcription	Stomach Mucosa	stomach
7	chr3:111467800-111471400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:111468000-111471200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:111468000-111471400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:111468000-111471400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:111468200-111471200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:111468200-111471200	Enhancers	Osteobl	bone
13	chr3:111468200-111471400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:111468400-111471000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:111468400-111471200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:111468400-111471200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:111468400-111471200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:111468400-111471200	Enhancers	HMEC	breast
19	chr3:111468400-111471400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:111468600-111471000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:111468800-111470800	Weak transcription	Fetal Lung	lung
22	chr3:111469000-111470800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:111469000-111471000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:111469200-111471000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:111469400-111471200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr3:111469400-111471200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:111469600-111470800	Weak transcription	Fetal Stomach	stomach
28	chr3:111469600-111471000	Enhancers	A549	lung
29	chr3:111469600-111471000	Weak transcription	HSMMtube	muscle
30	chr3:111469600-111471200	Enhancers	Adipose Nuclei	Adipose
31	chr3:111469600-111477800	Weak transcription	Liver	Liver
32	chr3:111470000-111470800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr3:111470200-111471000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:111470200-111471000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:111470200-111471000	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:111470200-111471000	Enhancers	Placenta Amnion	Placenta Amnion
37	chr3:111470200-111471000	Weak transcription	NHDF-Ad	bronchial
38	chr3:111470200-111471200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:111470200-111471200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr3:111470200-111471200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:111470400-111471200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr3:111470400-111471200	Enhancers	Hela-S3	cervix
43	chr3:111470400-111471200	Weak transcription	NHLF	lung
44	chr3:111470400-111471400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:111470600-111471400	Enhancers	NH-A	brain

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