Variant report

Variant	rs12733001
Chromosome Location	chr1:169294799-169294800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169281102..169283906-chr1:169293701..169295205,2	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1024340	0.82[EUR][1000 genomes]
rs1024341	0.82[EUR][1000 genomes]
rs1028180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10753786	0.82[CHB][hapmap]
rs10800423	0.87[ASN][1000 genomes]
rs10800447	0.82[CHB][hapmap]
rs1080268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs10919173	0.88[CHB][hapmap]
rs1208373	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs12117884	1.00[ASN][1000 genomes]
rs12121185	1.00[ASN][1000 genomes]
rs12121994	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12143193	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12145146	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12145226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12725912	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12733037	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12733626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12735021	0.82[EUR][1000 genomes]
rs12735250	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12735330	0.82[EUR][1000 genomes]
rs12736886	0.82[EUR][1000 genomes]
rs12738167	0.97[ASN][1000 genomes]
rs12739337	0.96[ASN][1000 genomes]
rs12743782	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12744668	0.82[EUR][1000 genomes]
rs12745541	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12748624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12751379	1.00[CEU][hapmap]
rs12751929	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12752953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12756556	0.82[EUR][1000 genomes]
rs12757242	0.82[EUR][1000 genomes]
rs12757669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320964	1.00[CEU][hapmap]
rs1320966	1.00[CEU][hapmap]
rs1517745	0.88[CHB][hapmap]
rs1533518	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1533519	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs16828165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs16861997	1.00[CEU][hapmap]
rs16862051	1.00[CEU][hapmap]
rs16862081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16862097	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs16862176	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs16862180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16862217	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs1883167	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2012757	0.82[EUR][1000 genomes]
rs2037249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2066001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2152980	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154125	0.82[EUR][1000 genomes]
rs2187963	0.82[EUR][1000 genomes]
rs2271762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2300158	0.82[CHB][hapmap]
rs2300160	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs2420011	0.82[EUR][1000 genomes]
rs2420014	0.89[ASN][1000 genomes]
rs2420015	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2420016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3213586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34016668	0.85[ASN][1000 genomes]
rs34032351	0.82[EUR][1000 genomes]
rs34127028	0.82[EUR][1000 genomes]
rs34246691	0.82[EUR][1000 genomes]
rs34469836	0.87[ASN][1000 genomes]
rs34577710	0.82[EUR][1000 genomes]
rs34640648	0.82[EUR][1000 genomes]
rs34651513	0.82[EUR][1000 genomes]
rs34689938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34848249	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34930817	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35171152	0.82[EUR][1000 genomes]
rs35232870	0.82[EUR][1000 genomes]
rs35244822	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35272114	0.82[EUR][1000 genomes]
rs35375125	0.95[ASN][1000 genomes]
rs35406371	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35435858	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35448601	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35493809	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35527028	1.00[CEU][hapmap]
rs35639586	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35653716	1.00[EUR][1000 genomes]
rs35680826	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36013240	0.82[EUR][1000 genomes]
rs36023090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36040633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs36154866	0.97[ASN][1000 genomes]
rs36179730	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3753299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3766075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs3766076	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs3766078	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs3766083	1.00[CEU][hapmap]
rs3766084	1.00[CEU][hapmap]
rs3766090	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3766097	0.82[EUR][1000 genomes]
rs3862937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4140538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41442344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4284298	0.82[EUR][1000 genomes]
rs58809384	0.82[EUR][1000 genomes]
rs60378653	0.82[EUR][1000 genomes]
rs61515530	0.82[EUR][1000 genomes]
rs66512221	0.82[EUR][1000 genomes]
rs6672589	0.88[CHB][hapmap]
rs6675220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs6686677	0.82[EUR][1000 genomes]
rs67214318	0.82[EUR][1000 genomes]
rs67317028	0.82[EUR][1000 genomes]
rs68023805	0.82[EUR][1000 genomes]
rs71523143	0.95[ASN][1000 genomes]
rs71635619	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs718031	0.82[EUR][1000 genomes]
rs724048	0.88[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs72637226	0.82[EUR][1000 genomes]
rs72637227	0.82[EUR][1000 genomes]
rs72637228	0.82[EUR][1000 genomes]
rs7528751	1.00[CEU][hapmap]
rs7538158	0.82[EUR][1000 genomes]
rs7551623	1.00[CEU][hapmap]
rs929133	0.94[CHB][hapmap];0.90[ASN][1000 genomes]
rs9332647	1.00[CEU][hapmap]
rs9332658	1.00[CEU][hapmap]
rs9332678	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv429913	chr1:169177019-169296744	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169260400-169310400	Weak transcription	Fetal Stomach	stomach
2	chr1:169265000-169320400	Weak transcription	Aorta	Aorta
3	chr1:169270200-169336400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:169271800-169297200	Weak transcription	Psoas Muscle	Psoas
5	chr1:169273600-169312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:169276800-169304600	Weak transcription	Ovary	ovary
7	chr1:169277000-169306200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:169279000-169295600	Weak transcription	Adipose Nuclei	Adipose
9	chr1:169279200-169296000	Weak transcription	Primary T cells from cord blood	blood
10	chr1:169280200-169304600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:169281600-169306600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:169281800-169295400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:169282000-169306800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:169282200-169295800	Weak transcription	NHEK	skin
15	chr1:169282400-169295600	Weak transcription	NH-A	brain
16	chr1:169286200-169295400	Weak transcription	HUVEC	blood vessel
17	chr1:169288600-169297200	Weak transcription	Small Intestine	intestine
18	chr1:169291000-169295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:169291000-169295600	Weak transcription	HMEC	breast
20	chr1:169291000-169295800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:169291000-169296200	Weak transcription	NHDF-Ad	bronchial
22	chr1:169291000-169313200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:169291200-169296000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:169291400-169296000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:169291400-169296000	Weak transcription	Osteobl	bone
26	chr1:169291600-169295600	Weak transcription	Hela-S3	cervix
27	chr1:169292400-169294800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:169293400-169295400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:169293600-169294800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:169293600-169295600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:169293600-169295600	Enhancers	A549	lung
32	chr1:169293800-169294800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:169294000-169295400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:169294000-169305200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:169294200-169295000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:169294200-169295600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:169294400-169294800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:169294400-169294800	Enhancers	Fetal Intestine Small	intestine
39	chr1:169294400-169294800	Enhancers	Left Ventricle	heart
40	chr1:169294400-169295400	Enhancers	K562	blood
41	chr1:169294600-169294800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:169294600-169294800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr1:169294600-169294800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr1:169294600-169297600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:169294600-169307400	Weak transcription	Gastric	stomach

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