Variant report

Variant	rs17129100
Chromosome Location	chr1:67030601-67030602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10127489	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10127497	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10127994	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10128053	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10159265	0.84[EUR][1000 genomes]
rs11208911	0.81[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11208912	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11208913	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12057164	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12066541	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12069946	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12070270	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12072937	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12074963	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12085282	0.82[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12091471	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12091475	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13376692	0.83[EUR][1000 genomes]
rs1348674	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1445574	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1530490	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1530491	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17129101	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17129226	0.88[EUR][1000 genomes]
rs17129244	0.84[EUR][1000 genomes]
rs17129245	0.84[EUR][1000 genomes]
rs17129252	0.82[EUR][1000 genomes]
rs17129269	0.81[EUR][1000 genomes]
rs1832417	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1988415	0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs20354	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2121042	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2166307	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2166308	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2182110	0.83[EUR][1000 genomes]
rs3901541	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41405244	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41511845	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55817355	0.84[EUR][1000 genomes]
rs55895340	0.83[EUR][1000 genomes]
rs57572851	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58064608	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58171402	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58274265	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58418199	0.84[EUR][1000 genomes]
rs61313508	0.84[EUR][1000 genomes]
rs6588210	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6588211	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6588212	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6588213	0.84[EUR][1000 genomes]
rs66552897	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6664698	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6689138	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6689183	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6689333	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6690186	0.82[EUR][1000 genomes]
rs6696366	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67915022	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72669451	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72669463	0.83[EUR][1000 genomes]
rs72669465	0.83[EUR][1000 genomes]
rs72670251	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676189	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72676194	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72676196	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72676198	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72679015	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs74085003	0.81[EUR][1000 genomes]
rs74087510	0.84[EUR][1000 genomes]
rs7520353	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7528240	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7531750	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7532442	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7538967	0.84[EUR][1000 genomes]
rs7543378	0.84[EUR][1000 genomes]
rs7545674	0.83[EUR][1000 genomes]
rs920986	0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1210	chr1:67017295-67033203	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67025000-67031600	Enhancers	Fetal Lung	lung
2	chr1:67027200-67032000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:67027400-67031400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:67028600-67030800	Weak transcription	Brain Germinal Matrix	brain
5	chr1:67028600-67031000	Enhancers	HMEC	breast
6	chr1:67028800-67030800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:67028800-67031400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:67029200-67030800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:67029200-67030800	Enhancers	HepG2	liver
10	chr1:67029200-67033600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:67029200-67042600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:67029400-67030800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:67029400-67040800	Weak transcription	Brain Anterior Caudate	brain
14	chr1:67029400-67041400	Weak transcription	Left Ventricle	heart
15	chr1:67029600-67030800	Enhancers	HSMM	muscle
16	chr1:67029600-67041400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:67029600-67041600	Weak transcription	Aorta	Aorta
18	chr1:67029800-67031000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:67029800-67032000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:67029800-67040200	Weak transcription	Fetal Heart	heart
21	chr1:67030000-67030800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:67030000-67031000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:67030000-67031000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:67030000-67031000	Enhancers	NHLF	lung
25	chr1:67030000-67031200	Enhancers	Osteobl	bone
26	chr1:67030000-67031400	Enhancers	Hela-S3	cervix
27	chr1:67030000-67031400	Enhancers	HUVEC	blood vessel
28	chr1:67030000-67036400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:67030400-67030800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:67030400-67030800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:67030400-67031600	Enhancers	NHDF-Ad	bronchial
32	chr1:67030600-67030800	Enhancers	NH-A	brain
33	chr1:67030600-67031000	Enhancers	NHEK	skin
34	chr1:67030600-67031600	Enhancers	Muscle Satellite Cultured Cells	--

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