Variant report

Variant	rs12696045
Chromosome Location	chr3:156975188-156975189
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	chr3:156974074..156978072-chr3:156979844..156983022,4	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10451871	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10451916	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1046938	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10513507	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11926167	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12637518	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13061214	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13081036	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13081038	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13084070	0.82[ASN][1000 genomes]
rs13084522	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1392799	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1403103	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1500925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1587534	0.81[EUR][1000 genomes]
rs1587535	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1608127	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16827350	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16827384	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35217153	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3749214	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4383468	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4632503	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680342	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4680344	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4680346	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680348	0.81[EUR][1000 genomes]
rs6441114	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6441122	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6441123	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67196056	0.80[EUR][1000 genomes]
rs6767619	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6773061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6780831	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6781991	0.82[ASN][1000 genomes]
rs6783595	0.82[ASN][1000 genomes]
rs6789178	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6805114	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6808284	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6808457	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6809003	0.82[ASN][1000 genomes]
rs6809394	0.82[ASN][1000 genomes]
rs7620178	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7625059	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7636185	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7638194	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7642179	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7647643	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs924517	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9289978	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9289979	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9289980	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9811195	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9827676	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9831830	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9848409	0.82[ASN][1000 genomes]
rs9849168	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9861469	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv877687	chr3:156924793-157044184	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156967000-156979000	Weak transcription	HSMMtube	muscle
2	chr3:156967200-156982000	Weak transcription	Lung	lung
3	chr3:156967200-156989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:156967200-157000000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:156967200-157000000	Weak transcription	NH-A	brain
6	chr3:156967200-157007800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:156968000-156976400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:156968000-156981800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:156972800-156978400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:156973400-156975200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:156973400-156975400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr3:156973400-156975400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:156973400-156975600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:156973600-156975200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:156973800-156976600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:156974000-156982400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:156974200-156975400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:156974200-156976200	Weak transcription	HUVEC	blood vessel
19	chr3:156974200-156979000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:156974400-156975400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:156974400-156975800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:156974600-156975600	Enhancers	Osteobl	bone
23	chr3:156974800-156975200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:156974800-156975600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:156975000-156975400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:156975000-156975400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:156975000-156975600	Enhancers	HUES6 Cell Line	embryonic stem cell

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