Variant report

Variant	rs13123591
Chromosome Location	chr4:120105990-120105991
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120105848..120109387-chr4:120131964..120134946,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178636	Chromatin interaction
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10006304	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10010696	0.86[EUR][1000 genomes]
rs10013032	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10022508	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10029750	0.81[EUR][1000 genomes]
rs10031033	0.81[EUR][1000 genomes]
rs10213342	0.80[EUR][1000 genomes]
rs1033087	0.94[ASN][1000 genomes]
rs11098490	0.90[ASN][1000 genomes]
rs11098491	0.90[ASN][1000 genomes]
rs11098492	0.92[ASN][1000 genomes]
rs11098493	0.93[ASN][1000 genomes]
rs11098496	0.82[EUR][1000 genomes]
rs11098499	0.81[EUR][1000 genomes]
rs11733239	0.89[ASN][1000 genomes]
rs11931312	0.85[EUR][1000 genomes]
rs11944880	0.86[EUR][1000 genomes]
rs12186259	0.89[EUR][1000 genomes]
rs12501610	0.81[EUR][1000 genomes]
rs12502503	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506395	0.81[EUR][1000 genomes]
rs12509054	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12512517	0.80[EUR][1000 genomes]
rs12513191	0.92[ASN][1000 genomes]
rs13113112	0.86[EUR][1000 genomes]
rs13114751	0.86[EUR][1000 genomes]
rs13120560	0.90[ASN][1000 genomes]
rs13126596	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13129661	0.84[EUR][1000 genomes]
rs13136593	0.92[ASN][1000 genomes]
rs13138782	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13435802	0.82[EUR][1000 genomes]
rs1397608	0.86[EUR][1000 genomes]
rs1511015	0.82[EUR][1000 genomes]
rs1511018	0.86[EUR][1000 genomes]
rs1511019	0.85[EUR][1000 genomes]
rs1551	0.85[EUR][1000 genomes]
rs17839089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036861	0.94[ASN][1000 genomes]
rs2203039	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28374891	0.81[EUR][1000 genomes]
rs28452522	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34585914	0.81[EUR][1000 genomes]
rs34616304	0.82[EUR][1000 genomes]
rs35197422	0.82[EUR][1000 genomes]
rs35271032	0.86[EUR][1000 genomes]
rs35434465	0.82[EUR][1000 genomes]
rs35643470	0.81[EUR][1000 genomes]
rs35916640	0.85[EUR][1000 genomes]
rs4145951	0.85[EUR][1000 genomes]
rs4355373	0.90[ASN][1000 genomes]
rs4833612	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4833613	0.84[ASN][1000 genomes]
rs56122576	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56386062	0.86[EUR][1000 genomes]
rs6534130	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67073020	0.84[EUR][1000 genomes]
rs68128210	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6814412	0.81[EUR][1000 genomes]
rs6815725	0.86[EUR][1000 genomes]
rs6822498	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6826823	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6832670	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6837898	0.82[EUR][1000 genomes]
rs6838674	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6845702	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6849889	0.81[EUR][1000 genomes]
rs6851130	0.92[ASN][1000 genomes]
rs6851169	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7441137	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7661020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684942	0.85[EUR][1000 genomes]
rs7685268	0.86[EUR][1000 genomes]
rs951570	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9884728	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9993110	0.91[ASN][1000 genomes]
rs9995277	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996382	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription 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	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs13123591	RP11-384K6.6	cis	Whole Blood	GTEx
rs13123591	RP11-384K6.6	cis	Artery Tibial	GTEx
rs13123591	LOC645513	Cis_1M	lymphoblastoid	RTeQTL
rs13123591	FLJ14186///LOC284701///LOC441124///LOC728624	Cis_1M	lymphoblastoid	RTeQTL
rs13123591	RP11-33B1.1	cis	Whole Blood	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120070800-120109200	Weak transcription	Psoas Muscle	Psoas
2	chr4:120077000-120107800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:120079800-120114200	Weak transcription	Aorta	Aorta
4	chr4:120087800-120111800	Weak transcription	HSMMtube	muscle
5	chr4:120088800-120110200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:120090000-120109800	Weak transcription	Fetal Heart	heart
7	chr4:120101000-120132400	Weak transcription	Left Ventricle	heart
8	chr4:120101200-120107600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:120104000-120107000	Weak transcription	Right Atrium	heart
10	chr4:120104400-120106200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:120104800-120106200	Enhancers	HMEC	breast
12	chr4:120105400-120106200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:120105400-120106200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:120105400-120106400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:120105800-120106400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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