Variant report

Variant	rs17129269
Chromosome Location	chr1:67120064-67120065
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	chr1:67117841..67120415-chr1:67120949..67123925,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10127489	0.81[EUR][1000 genomes]
rs10127497	0.81[EUR][1000 genomes]
rs10127994	0.81[EUR][1000 genomes]
rs10128053	0.94[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs10159265	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10749764	0.81[JPT][hapmap]
rs11208911	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs11208912	0.81[EUR][1000 genomes]
rs11208913	0.81[EUR][1000 genomes]
rs11208922	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs11208940	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11208952	0.88[CEU][hapmap]
rs11208953	0.83[CEU][hapmap]
rs12057164	0.81[EUR][1000 genomes]
rs12062570	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12066541	0.81[EUR][1000 genomes]
rs12069946	0.94[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs12070270	0.94[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs12072937	0.94[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs12074963	0.94[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs12085282	0.94[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs12091471	0.94[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs12091475	0.94[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs12094526	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13376692	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348674	0.81[EUR][1000 genomes]
rs1530490	0.81[EUR][1000 genomes]
rs1530491	0.94[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs17129100	0.81[EUR][1000 genomes]
rs17129101	0.94[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs17129226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17129244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17440390	1.00[CEU][hapmap]
rs1832417	0.94[CEU][hapmap]
rs1988415	0.94[CEU][hapmap]
rs20354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs2121042	0.81[EUR][1000 genomes]
rs2166307	0.94[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs2166308	0.80[EUR][1000 genomes]
rs2182110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3901541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes]
rs41405244	0.94[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs41418445	0.94[CEU][hapmap];0.90[JPT][hapmap]
rs41511845	0.94[CEU][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs4655642	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs5008753	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55817355	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55895340	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57572851	0.89[EUR][1000 genomes]
rs58064608	0.86[EUR][1000 genomes]
rs58171402	0.81[EUR][1000 genomes]
rs58274265	0.81[EUR][1000 genomes]
rs58418199	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61313508	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6588211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[EUR][1000 genomes]
rs6588212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[EUR][1000 genomes]
rs6588213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66552897	0.81[EUR][1000 genomes]
rs6664403	0.83[EUR][1000 genomes]
rs6664597	0.83[EUR][1000 genomes]
rs6664698	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6670827	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6689138	0.81[EUR][1000 genomes]
rs6689183	0.81[EUR][1000 genomes]
rs6689333	0.81[EUR][1000 genomes]
rs6690186	0.83[CEU][hapmap]
rs6694782	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6696366	0.81[EUR][1000 genomes]
rs67915022	0.81[EUR][1000 genomes]
rs72669451	0.89[EUR][1000 genomes]
rs72669463	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669465	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669469	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72669472	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72669475	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72669488	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72670251	0.81[EUR][1000 genomes]
rs72676194	0.81[EUR][1000 genomes]
rs72676196	0.81[EUR][1000 genomes]
rs72679015	0.87[EUR][1000 genomes]
rs74085003	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74087510	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7520353	0.94[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs7525761	0.80[CEU][hapmap]
rs7528240	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7531750	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7532442	0.81[EUR][1000 genomes]
rs7536634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7538967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7543378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549727	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs920986	0.94[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs9787219	0.88[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67090400-67155000	Weak transcription	Fetal Heart	heart
2	chr1:67091200-67128000	Weak transcription	NH-A	brain
3	chr1:67100000-67144400	Weak transcription	Left Ventricle	heart
4	chr1:67102800-67120200	Weak transcription	Brain Germinal Matrix	brain
5	chr1:67106200-67143000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:67108000-67136200	Weak transcription	Fetal Brain Female	brain
7	chr1:67109200-67120200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:67109200-67141800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:67109600-67134200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:67109600-67155000	Weak transcription	Brain Anterior Caudate	brain
11	chr1:67110800-67134400	Weak transcription	Brain Substantia Nigra	brain
12	chr1:67111000-67120400	Weak transcription	Brain Angular Gyrus	brain
13	chr1:67111000-67135200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:67111400-67154800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:67114200-67134200	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:67114200-67142000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:67114200-67156400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:67114600-67142200	Weak transcription	NHLF	lung
19	chr1:67115400-67121000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:67118200-67120600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:67118600-67120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:67118600-67123200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:67118800-67120800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:67118800-67138800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:67118800-67140400	Weak transcription	Aorta	Aorta

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