Variant report

Variant	rs644023
Chromosome Location	chr1:97743295-97743296
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:32)

rs_ID	r²[population]
rs10783059	0.84[EUR][1000 genomes]
rs10783060	0.85[EUR][1000 genomes]
rs11808765	0.82[EUR][1000 genomes]
rs1609519	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28696953	0.87[EUR][1000 genomes]
rs471581	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs499009	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs507170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs526645	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs553388	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55651621	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61786317	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61786318	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61786353	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61786356	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61786357	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61787962	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61787963	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61787976	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61787980	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61787981	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs628959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6660936	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs693680	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72726678	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72726691	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7518848	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7524482	0.80[EUR][1000 genomes]
rs7526933	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7556387	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7556439	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs827500	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv470728	chr1:97703325-97761972	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97720600-97772000	Weak transcription	Ovary	ovary
2	chr1:97724000-97773200	Weak transcription	Lung	lung
3	chr1:97730400-97769800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:97731400-97761200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:97731600-97757600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:97731600-97757800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:97733400-97748800	Weak transcription	Dnd41	blood
8	chr1:97733600-97769800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:97736800-97747600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:97736800-97771600	Weak transcription	Left Ventricle	heart
11	chr1:97737800-97750400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:97737800-97771600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:97738800-97766200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:97740600-97745400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:97741200-97743600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:97742400-97743800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:97742600-97744000	Strong transcription	Primary T cells from cord blood	blood
18	chr1:97742600-97746400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:97742800-97743600	Enhancers	HUVEC	blood vessel
20	chr1:97742800-97743800	Enhancers	Hela-S3	cervix
21	chr1:97742800-97744800	Enhancers	HMEC	breast
22	chr1:97742800-97745200	Enhancers	NHDF-Ad	bronchial
23	chr1:97743000-97743400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:97743000-97743800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:97743000-97743800	Enhancers	NHEK	skin
26	chr1:97743000-97744400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:97743000-97744400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr1:97743000-97744600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:97743000-97744600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:97743000-97745000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:97743000-97745000	Enhancers	NH-A	brain
32	chr1:97743000-97745200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:97743000-97745200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:97743000-97745200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:97743000-97745200	Enhancers	Stomach Mucosa	stomach
36	chr1:97743000-97750600	Weak transcription	Liver	Liver
37	chr1:97743000-97759600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:97743200-97743600	Flanking Active TSS	A549	lung
39	chr1:97743200-97744400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:97743200-97744600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:97743200-97745200	Enhancers	NHLF	lung

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