Variant report

Variant	rs263962
Chromosome Location	chr1:45353760-45353761
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	chr1:45347119..45349158-chr1:45352606..45354384,2	K562	blood:
2	chr1:45347119..45349552-chr1:45352156..45354106,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10158188	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211044	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211046	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11211047	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11573543	0.89[ASN][1000 genomes]
rs12094007	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12118515	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12120470	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12144803	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1226572	0.86[ASN][1000 genomes]
rs12408818	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12568071	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12568279	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2273940	0.89[EUR][1000 genomes]
rs263956	0.84[ASN][1000 genomes]
rs263965	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs263966	0.84[ASN][1000 genomes]
rs263975	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs263977	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs263980	0.84[ASN][1000 genomes]
rs263982	0.81[ASN][1000 genomes]
rs263987	0.86[ASN][1000 genomes]
rs264005	0.84[ASN][1000 genomes]
rs264009	0.84[ASN][1000 genomes]
rs3121173	0.84[ASN][1000 genomes]
rs36107413	0.84[ASN][1000 genomes]
rs3795720	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs438493	0.84[ASN][1000 genomes]
rs452989	0.84[ASN][1000 genomes]
rs620764	0.81[ASN][1000 genomes]
rs6688465	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6696675	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6698951	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs746320	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7514741	0.87[EUR][1000 genomes]
rs7525308	0.89[EUR][1000 genomes]
rs7526786	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7545808	0.89[EUR][1000 genomes]
rs7554177	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs932691	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9429058	0.84[ASN][1000 genomes]
rs9645347	0.89[EUR][1000 genomes]
rs9988451	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
2	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
3	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
4	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:45309600-45354200	Weak transcription	Fetal Brain Male	brain
3	chr1:45313400-45360200	Weak transcription	Hela-S3	cervix
4	chr1:45317800-45355600	Weak transcription	NHDF-Ad	bronchial
5	chr1:45322600-45360000	Weak transcription	Small Intestine	intestine
6	chr1:45332600-45357200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:45333400-45357000	Weak transcription	Fetal Kidney	kidney
8	chr1:45334600-45371800	Weak transcription	Gastric	stomach
9	chr1:45337400-45355600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:45340800-45361800	Weak transcription	Aorta	Aorta
11	chr1:45341200-45354000	Weak transcription	Stomach Mucosa	stomach
12	chr1:45341200-45355600	Weak transcription	NHLF	lung
13	chr1:45341400-45354800	Weak transcription	Psoas Muscle	Psoas
14	chr1:45345600-45366200	Weak transcription	Esophagus	oesophagus
15	chr1:45345800-45363600	Weak transcription	Colonic Mucosa	Colon
16	chr1:45346200-45353800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:45346200-45359200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:45346400-45363200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:45347600-45353800	Weak transcription	HSMMtube	muscle
20	chr1:45347600-45353800	Weak transcription	Osteobl	bone
21	chr1:45347600-45354400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:45347600-45356400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:45347600-45358800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:45347600-45360400	Weak transcription	HMEC	breast
25	chr1:45347600-45362600	Weak transcription	Lung	lung
26	chr1:45347600-45410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:45348000-45360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:45349000-45357000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:45349600-45353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:45349600-45358400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:45349600-45360000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:45350600-45355600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:45350600-45360600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:45350600-45361200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:45350800-45354000	Weak transcription	Adipose Nuclei	Adipose
36	chr1:45350800-45355600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:45350800-45355600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:45350800-45355600	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:45350800-45363200	Weak transcription	Right Ventricle	heart
40	chr1:45350800-45363400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:45350800-45364200	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:45350800-45369000	Weak transcription	Brain Angular Gyrus	brain
43	chr1:45350800-45382400	Weak transcription	Pancreas	Pancrea
44	chr1:45350800-45411800	Weak transcription	Left Ventricle	heart
45	chr1:45351000-45355600	Weak transcription	Brain Anterior Caudate	brain
46	chr1:45351000-45355600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:45351200-45355400	Weak transcription	HUVEC	blood vessel
48	chr1:45351400-45357800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
49	chr1:45351400-45358200	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr1:45351800-45357200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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