Variant report

Variant	rs12751929
Chromosome Location	chr1:169310957-169310958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1028180	0.83[EUR][1000 genomes]
rs10800423	0.85[ASN][1000 genomes]
rs12117884	0.98[ASN][1000 genomes]
rs12121185	0.98[ASN][1000 genomes]
rs12121994	0.95[ASN][1000 genomes]
rs12143193	0.97[ASN][1000 genomes]
rs12145146	0.95[ASN][1000 genomes]
rs12145226	0.95[ASN][1000 genomes]
rs12725912	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12733001	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12733626	0.95[ASN][1000 genomes]
rs12735250	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12738167	0.95[ASN][1000 genomes]
rs12739337	0.95[ASN][1000 genomes]
rs12743782	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12745541	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12752953	0.83[EUR][1000 genomes]
rs12757669	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1533518	0.83[EUR][1000 genomes]
rs16862081	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16862097	0.83[EUR][1000 genomes]
rs16862133	0.83[EUR][1000 genomes]
rs2066001	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2152980	0.98[ASN][1000 genomes]
rs2203743	0.83[EUR][1000 genomes]
rs2272801	0.83[EUR][1000 genomes]
rs2420014	0.87[ASN][1000 genomes]
rs2420016	0.95[ASN][1000 genomes]
rs3213586	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3213587	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34016668	0.84[ASN][1000 genomes]
rs34373126	0.83[EUR][1000 genomes]
rs34469836	0.86[ASN][1000 genomes]
rs34599582	0.83[EUR][1000 genomes]
rs34689938	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34848249	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34930817	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35244822	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35375125	0.93[ASN][1000 genomes]
rs35406371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35435858	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35448601	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35493809	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35639586	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35653716	0.96[EUR][1000 genomes]
rs35680826	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36023090	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36154866	0.95[ASN][1000 genomes]
rs36179730	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3765229	0.83[EUR][1000 genomes]
rs3766090	0.98[ASN][1000 genomes]
rs4140538	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4140539	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4590731	0.83[EUR][1000 genomes]
rs57295069	0.83[EUR][1000 genomes]
rs71523143	0.96[ASN][1000 genomes]
rs71635619	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72637232	0.83[EUR][1000 genomes]
rs929133	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522071	chr1:168978325-169339044	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv3522072	chr1:168978325-169339044	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1010010	chr1:169189586-169347545	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1012919	chr1:169200982-169324750	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv872532	chr1:169275630-169363203	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3436595	chr1:169310753-169313301	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	n/a
9	esv3344388	chr1:169310953-169313226	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169265000-169320400	Weak transcription	Aorta	Aorta
2	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:169273600-169312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:169291000-169313200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:169296600-169324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:169303000-169312600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:169303800-169317600	Weak transcription	Liver	Liver
8	chr1:169304800-169313200	Weak transcription	Spleen	Spleen
9	chr1:169305600-169312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:169305600-169336400	Weak transcription	Left Ventricle	heart
11	chr1:169308000-169311200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:169309200-169333600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:169309400-169314600	Weak transcription	K562	blood
14	chr1:169309400-169336400	Weak transcription	Ovary	ovary
15	chr1:169310000-169311600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:169310200-169311000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:169310200-169311000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:169310200-169311000	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr1:169310200-169311200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:169310400-169311000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:169310400-169311000	ZNF genes & repeats	Fetal Intestine Large	intestine
22	chr1:169310600-169311000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr1:169310600-169311200	ZNF genes & repeats	Brain Germinal Matrix	brain
24	chr1:169310600-169311800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:169310600-169316800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:169310800-169311600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:169310800-169312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:169310800-169332800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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