Variant report

Variant	rs2291942
Chromosome Location	chr5:80597363-80597364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10041138	0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052929	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10061143	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10072332	0.84[ASN][1000 genomes]
rs12514420	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12516414	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs12652649	0.90[JPT][hapmap]
rs12657721	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs12659947	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs1566433	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16876403	0.90[JPT][hapmap]
rs16878586	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2270824	0.80[JPT][hapmap]
rs2277037	0.90[JPT][hapmap]
rs2406557	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4502795	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4703828	0.90[JPT][hapmap]
rs4703832	0.80[ASN][1000 genomes]
rs4704711	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4704713	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4704714	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4704716	1.00[JPT][hapmap]
rs4704717	0.90[JPT][hapmap]
rs56938600	0.85[ASN][1000 genomes]
rs57040652	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57266451	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6863732	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6868743	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6871676	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6877340	0.80[ASN][1000 genomes]
rs6889795	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6896441	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6896890	0.85[ASN][1000 genomes]
rs7718501	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7731117	0.85[ASN][1000 genomes]
rs955948	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80593800-80599800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:80595200-80598200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr5:80595200-80598200	Active TSS	Right Atrium	heart
4	chr5:80595200-80598600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr5:80595400-80598200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:80595400-80598200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:80595400-80598600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:80595400-80598800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr5:80595800-80597600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr5:80595800-80598400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:80595800-80598400	Active TSS	Fetal Kidney	kidney
12	chr5:80595800-80598400	Active TSS	K562	blood
13	chr5:80596000-80598200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:80596000-80598400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr5:80596000-80598400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr5:80596200-80597600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:80596200-80598000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:80596200-80598200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr5:80596200-80598200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr5:80596200-80598800	Active TSS	NHLF	lung
21	chr5:80596400-80598000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:80596400-80598000	Active TSS	Fetal Muscle Trunk	muscle
23	chr5:80596400-80598000	Active TSS	Placenta	Placenta
24	chr5:80596400-80598000	Active TSS	Lung	lung
25	chr5:80596400-80598000	Active TSS	Ovary	ovary
26	chr5:80596400-80598400	Active TSS	A549	lung
27	chr5:80596400-80598400	Active TSS	NHDF-Ad	bronchial
28	chr5:80596400-80598600	Active TSS	Aorta	Aorta
29	chr5:80596400-80598800	Active TSS	GM12878-XiMat	blood
30	chr5:80596600-80598000	Active TSS	Esophagus	oesophagus
31	chr5:80596600-80598000	Active TSS	Fetal Brain Female	brain
32	chr5:80596600-80598200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr5:80596600-80598200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:80596600-80598200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:80596600-80598200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:80596600-80598200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:80596600-80598200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:80596600-80598200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:80596600-80598200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:80596600-80598200	Active TSS	Fetal Intestine Large	intestine
41	chr5:80596600-80598200	Active TSS	Left Ventricle	heart
42	chr5:80596600-80598200	Active TSS	Pancreas	Pancrea
43	chr5:80596600-80598200	Active TSS	Hela-S3	cervix
44	chr5:80596600-80598200	Active TSS	HMEC	breast
45	chr5:80596600-80598200	Active TSS	HSMMtube	muscle
46	chr5:80596600-80598400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr5:80596600-80598400	Active TSS	Psoas Muscle	Psoas
48	chr5:80596600-80598800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:80596800-80597800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:80596800-80597800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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