Variant report

Variant	rs73238374
Chromosome Location	chr4:56730304-56730305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11658	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11722734	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12498449	1.00[ASN][1000 genomes]
rs12646999	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17086129	0.99[ASN][1000 genomes]
rs2290016	0.97[ASN][1000 genomes]
rs61260672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820052	0.96[ASN][1000 genomes]
rs73238378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73238389	1.00[ASN][1000 genomes]
rs73238391	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238392	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238393	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73238401	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56720400-56764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:56720600-56734600	Weak transcription	Lung	lung
3	chr4:56720600-56747400	Weak transcription	Spleen	Spleen
4	chr4:56720800-56734600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:56720800-56735200	Weak transcription	Esophagus	oesophagus
6	chr4:56720800-56737200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:56720800-56761800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:56721000-56731400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:56721000-56734600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr4:56721000-56734600	Weak transcription	Brain Substantia Nigra	brain
11	chr4:56721000-56747400	Weak transcription	Aorta	Aorta
12	chr4:56721200-56731000	Weak transcription	HMEC	breast
13	chr4:56721200-56731400	Weak transcription	Fetal Lung	lung
14	chr4:56721200-56731400	Weak transcription	A549	lung
15	chr4:56721200-56732200	Weak transcription	Stomach Mucosa	stomach
16	chr4:56721400-56731000	Weak transcription	NH-A	brain
17	chr4:56721400-56731200	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:56721400-56732600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:56721400-56734600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:56721400-56735800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr4:56721600-56731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:56721600-56731600	Weak transcription	Hela-S3	cervix
23	chr4:56721600-56732800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
25	chr4:56721800-56731000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:56721800-56734400	Weak transcription	Brain Angular Gyrus	brain
27	chr4:56721800-56734400	Weak transcription	Colonic Mucosa	Colon
28	chr4:56721800-56734600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr4:56722000-56735800	Weak transcription	Fetal Brain Male	brain
30	chr4:56722000-56747200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:56722200-56737200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:56722400-56734000	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:56722400-56734800	Weak transcription	Small Intestine	intestine
34	chr4:56722400-56735000	Weak transcription	Psoas Muscle	Psoas
35	chr4:56722600-56731200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:56722600-56732400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:56723400-56732000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:56723600-56732200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr4:56723800-56731800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:56723800-56732000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr4:56724000-56731600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:56724200-56732200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr4:56724200-56734600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:56724400-56732000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:56724400-56732000	Strong transcription	Liver	Liver
46	chr4:56724400-56732200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr4:56724400-56752400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:56724600-56731400	Strong transcription	Placenta	Placenta
49	chr4:56724600-56732600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:56724600-56734800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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