Variant report

Variant	rs263959
Chromosome Location	chr1:45351972-45351973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs174638	0.89[AFR][1000 genomes]
rs196764	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2265603	1.00[AMR][1000 genomes]
rs2476170	1.00[AMR][1000 genomes]
rs263957	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263963	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263968	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263972	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263974	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263976	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263983	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263984	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs263993	1.00[AMR][1000 genomes]
rs263995	1.00[AMR][1000 genomes]
rs264000	1.00[AMR][1000 genomes]
rs264001	1.00[AMR][1000 genomes]
rs264003	1.00[AMR][1000 genomes]
rs35710243	0.89[AFR][1000 genomes]
rs410800	1.00[AMR][1000 genomes]
rs411976	1.00[AMR][1000 genomes]
rs418302	0.89[AFR][1000 genomes]
rs425780	0.89[AFR][1000 genomes]
rs428928	1.00[AMR][1000 genomes]
rs430057	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs449870	1.00[AMR][1000 genomes]
rs474207	1.00[AMR][1000 genomes]
rs506691	1.00[AMR][1000 genomes]
rs536499	1.00[AMR][1000 genomes]
rs547476	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577647	1.00[AMR][1000 genomes]
rs638062	1.00[AMR][1000 genomes]
rs662660	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9429139	1.00[AMR][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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45309200-45360600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:45309600-45352400	Weak transcription	Fetal Heart	heart
3	chr1:45309600-45354200	Weak transcription	Fetal Brain Male	brain
4	chr1:45313400-45360200	Weak transcription	Hela-S3	cervix
5	chr1:45317800-45355600	Weak transcription	NHDF-Ad	bronchial
6	chr1:45322600-45360000	Weak transcription	Small Intestine	intestine
7	chr1:45331200-45352200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:45331600-45352400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:45332600-45357200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:45333400-45357000	Weak transcription	Fetal Kidney	kidney
11	chr1:45334600-45371800	Weak transcription	Gastric	stomach
12	chr1:45337400-45355600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr1:45340800-45361800	Weak transcription	Aorta	Aorta
14	chr1:45341200-45352200	Weak transcription	Fetal Lung	lung
15	chr1:45341200-45354000	Weak transcription	Stomach Mucosa	stomach
16	chr1:45341200-45355600	Weak transcription	NHLF	lung
17	chr1:45341400-45354800	Weak transcription	Psoas Muscle	Psoas
18	chr1:45344000-45352200	Weak transcription	HepG2	liver
19	chr1:45345600-45366200	Weak transcription	Esophagus	oesophagus
20	chr1:45345800-45363600	Weak transcription	Colonic Mucosa	Colon
21	chr1:45346000-45352400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:45346200-45353800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:45346200-45359200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:45346400-45363200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:45347400-45352200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:45347600-45352200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:45347600-45353400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:45347600-45353800	Weak transcription	HSMMtube	muscle
29	chr1:45347600-45353800	Weak transcription	Osteobl	bone
30	chr1:45347600-45354400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:45347600-45356400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:45347600-45358800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:45347600-45360400	Weak transcription	HMEC	breast
34	chr1:45347600-45362600	Weak transcription	Lung	lung
35	chr1:45347600-45410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:45347800-45352200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:45348000-45353000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:45348000-45360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:45348200-45352400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:45348200-45352800	Weak transcription	NHEK	skin
41	chr1:45349000-45357000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:45349600-45352200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:45349600-45352200	Weak transcription	HSMM	muscle
44	chr1:45349600-45353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:45349600-45358400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:45349600-45360000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:45349800-45352200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr1:45350000-45352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:45350200-45352200	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:45350200-45352600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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