Variant report

Variant	rs11163864
Chromosome Location	chr1:84366153-84366154
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84360013..84362913-chr1:84363319..84366226,2	K562	blood:

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

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

rs_ID	r²[population]
rs10489508	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493742	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493743	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116464	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116522	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116857	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118371	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118428	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119338	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119424	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12119854	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120380	1.00[ASN][1000 genomes]
rs12120801	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120905	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121058	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121629	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123323	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125111	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125251	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126397	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126515	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127526	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127657	0.86[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	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131968	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133196	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135679	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138857	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139383	1.00[ASN][1000 genomes]
rs12140562	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140964	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141004	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141166	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142059	1.00[ASN][1000 genomes]
rs12142873	0.89[EUR][1000 genomes]
rs12142944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12143951	1.00[ASN][1000 genomes]
rs12144066	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144704	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145472	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130437	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130475	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17475494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534879	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925712	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031371	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147394	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181901	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293003	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293005	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41423448	1.00[ASN][1000 genomes]
rs41525348	1.00[ASN][1000 genomes]
rs4258240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4387198	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4437897	1.00[ASN][1000 genomes]
rs45515591	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700983	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519127	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645391	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645396	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645397	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[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	chr1:84327000-84375400	Weak transcription	Brain Germinal Matrix	brain
2	chr1:84329000-84373000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:84333400-84382400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:84338800-84367600	Weak transcription	Pancreas	Pancrea
5	chr1:84341200-84380400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:84345600-84384400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:84346800-84382400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:84349800-84380400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:84351000-84391400	Weak transcription	Fetal Stomach	stomach
10	chr1:84352800-84382400	Weak transcription	Brain Anterior Caudate	brain
11	chr1:84353400-84375400	Weak transcription	Brain Angular Gyrus	brain
12	chr1:84354000-84380600	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:84355800-84382200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:84355800-84382600	Weak transcription	Adipose Nuclei	Adipose
15	chr1:84356000-84380400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:84356200-84367000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:84356200-84367400	Weak transcription	HSMMtube	muscle
18	chr1:84360600-84384600	Weak transcription	Aorta	Aorta
19	chr1:84362200-84370000	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:84362600-84403200	Weak transcription	Fetal Brain Male	brain
21	chr1:84363000-84376200	Weak transcription	Brain Substantia Nigra	brain
22	chr1:84363400-84367200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:84363600-84378400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:84365400-84368200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:84365400-84368400	Enhancers	NHEK	skin
26	chr1:84365600-84368200	Enhancers	HMEC	breast
27	chr1:84365800-84366600	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr1:84365800-84368200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:84366000-84366400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:84366000-84366400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:84366000-84366600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:84366000-84366600	Strong transcription	Fetal Brain Female	brain
33	chr1:84366000-84366800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:84366000-84368000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:84366000-84368000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:84366000-84368200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:84366000-84368200	Enhancers	HSMM	muscle
38	chr1:84366000-84368200	Enhancers	K562	blood
39	chr1:84366000-84368600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr1:84366000-84368600	Enhancers	NHDF-Ad	bronchial

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