Variant report

Variant	rs12127526
Chromosome Location	chr1:84355901-84355902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10489508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493742	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493743	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163863	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163864	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116857	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118371	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118428	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119338	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119424	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12119854	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120380	1.00[ASN][1000 genomes]
rs12120801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120905	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121058	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121629	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123323	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125251	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126397	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126515	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127657	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12128942	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12129276	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131968	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133196	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133949	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135679	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136835	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138857	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139383	1.00[ASN][1000 genomes]
rs12140562	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140964	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141166	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142059	1.00[ASN][1000 genomes]
rs12142873	0.81[EUR][1000 genomes]
rs12142944	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12143951	1.00[ASN][1000 genomes]
rs12144066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144704	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408474	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408475	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130437	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130475	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17475494	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534879	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925712	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181901	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389650	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41423448	1.00[ASN][1000 genomes]
rs41525348	1.00[ASN][1000 genomes]
rs4258240	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4387198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4437897	1.00[ASN][1000 genomes]
rs45515591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159052	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700983	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519127	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645391	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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	nsv871551	chr1:84354464-84453223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84327000-84361800	Weak transcription	Fetal Brain Female	brain
2	chr1:84327000-84375400	Weak transcription	Brain Germinal Matrix	brain
3	chr1:84329000-84373000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:84333400-84382400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:84338800-84367600	Weak transcription	Pancreas	Pancrea
6	chr1:84341000-84359400	Weak transcription	Psoas Muscle	Psoas
7	chr1:84341200-84380400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:84343600-84361800	Weak transcription	Fetal Brain Male	brain
9	chr1:84345600-84384400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:84346800-84382400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:84349800-84365000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:84349800-84365800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:84349800-84380400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:84350000-84366000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:84350000-84366000	Weak transcription	NHDF-Ad	bronchial
16	chr1:84350200-84363000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:84350200-84363000	Weak transcription	NHEK	skin
18	chr1:84351000-84391400	Weak transcription	Fetal Stomach	stomach
19	chr1:84352800-84359400	Weak transcription	Aorta	Aorta
20	chr1:84352800-84382400	Weak transcription	Brain Anterior Caudate	brain
21	chr1:84353000-84356000	Weak transcription	HSMM	muscle
22	chr1:84353000-84365600	Weak transcription	HMEC	breast
23	chr1:84353400-84361800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:84353400-84375400	Weak transcription	Brain Angular Gyrus	brain
25	chr1:84354000-84380600	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:84355200-84356200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:84355200-84356600	Enhancers	HUVEC	blood vessel
28	chr1:84355400-84356000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:84355400-84356000	Enhancers	NH-A	brain
30	chr1:84355400-84356200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:84355600-84356000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:84355600-84356000	Weak transcription	HSMMtube	muscle
33	chr1:84355600-84356200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:84355600-84356400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:84355600-84361600	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:84355600-84362800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:84355800-84362000	Weak transcription	Brain Substantia Nigra	brain
38	chr1:84355800-84363200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:84355800-84382200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:84355800-84382600	Weak transcription	Adipose Nuclei	Adipose

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