Variant report

Variant	rs73238371
Chromosome Location	chr4:56726403-56726404
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56691986..56694448-chr4:56725201..56727859,2	K562	blood:
2	chr4:56717920..56722163-chr4:56723001..56728347,7	K562	blood:
3	chr4:56413269..56415927-chr4:56725391..56727802,2	K562	blood:
4	chr4:56717893..56722441-chr4:56723240..56726712,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090989	Chromatin interaction
ENSG00000272969	Chromatin interaction
ENSG00000134852	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1072799	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729456	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086132	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086150	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086186	1.00[ASN][1000 genomes]
rs17086254	1.00[ASN][1000 genomes]
rs17728804	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17740755	1.00[ASN][1000 genomes]
rs17742000	1.00[ASN][1000 genomes]
rs17742722	1.00[ASN][1000 genomes]
rs17797113	1.00[ASN][1000 genomes]
rs17797407	1.00[ASN][1000 genomes]
rs17797571	1.00[ASN][1000 genomes]
rs17797595	1.00[ASN][1000 genomes]
rs17798452	1.00[ASN][1000 genomes]
rs17798872	1.00[ASN][1000 genomes]
rs2899046	1.00[ASN][1000 genomes]
rs2899053	1.00[ASN][1000 genomes]
rs34179097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34184679	1.00[ASN][1000 genomes]
rs35143702	1.00[ASN][1000 genomes]
rs41279543	1.00[ASN][1000 genomes]
rs41280345	1.00[ASN][1000 genomes]
rs55806680	1.00[AFR][1000 genomes]
rs56026480	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61753870	1.00[ASN][1000 genomes]
rs6814812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833480	1.00[ASN][1000 genomes]
rs6845953	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848009	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238326	1.00[AFR][1000 genomes]
rs73238333	1.00[AFR][1000 genomes]
rs73238359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238372	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238381	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238382	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238384	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238387	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238390	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238395	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238397	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238398	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238399	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238400	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs748013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7657912	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675287	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675490	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7690739	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994601	1.00[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	chr4:56720600-56729000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:56720600-56729000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:56720600-56734600	Weak transcription	Lung	lung
5	chr4:56720600-56747400	Weak transcription	Spleen	Spleen
6	chr4:56720800-56734600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:56720800-56735200	Weak transcription	Esophagus	oesophagus
8	chr4:56720800-56737200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:56720800-56761800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:56721000-56727000	Weak transcription	Right Ventricle	heart
11	chr4:56721000-56729000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:56721000-56731400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:56721000-56734600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:56721000-56734600	Weak transcription	Brain Substantia Nigra	brain
15	chr4:56721000-56747400	Weak transcription	Aorta	Aorta
16	chr4:56721200-56726800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:56721200-56726800	Weak transcription	Osteobl	bone
18	chr4:56721200-56727000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:56721200-56729000	Weak transcription	Fetal Stomach	stomach
20	chr4:56721200-56731000	Weak transcription	HMEC	breast
21	chr4:56721200-56731400	Weak transcription	Fetal Lung	lung
22	chr4:56721200-56731400	Weak transcription	A549	lung
23	chr4:56721200-56732200	Weak transcription	Stomach Mucosa	stomach
24	chr4:56721400-56727000	Weak transcription	Fetal Intestine Small	intestine
25	chr4:56721400-56731000	Weak transcription	NH-A	brain
26	chr4:56721400-56731200	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:56721400-56732600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:56721400-56734600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:56721400-56735800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:56721600-56726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:56721600-56728800	Weak transcription	NHLF	lung
32	chr4:56721600-56729400	Weak transcription	NHEK	skin
33	chr4:56721600-56731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:56721600-56731600	Weak transcription	Hela-S3	cervix
35	chr4:56721600-56732800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
37	chr4:56721800-56731000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:56721800-56734400	Weak transcription	Brain Angular Gyrus	brain
39	chr4:56721800-56734400	Weak transcription	Colonic Mucosa	Colon
40	chr4:56721800-56734600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:56722000-56728600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:56722000-56735800	Weak transcription	Fetal Brain Male	brain
43	chr4:56722000-56747200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:56722200-56727000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr4:56722200-56727000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:56722200-56729000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:56722200-56729200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:56722200-56737200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:56722400-56734000	Weak transcription	Brain Hippocampus Middle	brain
50	chr4:56722400-56734800	Weak transcription	Small Intestine	intestine

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