Variant report

Variant	rs13190305
Chromosome Location	chr5:60419377-60419378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60417821..60420681-chr5:60456901..60458465,2	MCF-7	breast:
2	chr5:60412981..60415103-chr5:60419112..60420959,2	K562	blood:

Variant related genes	Relation type
ENSG00000188725	Chromatin interaction
ENSG00000251279	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10052753	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10054247	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10056472	0.81[AFR][1000 genomes]
rs10069718	0.83[EUR][1000 genomes]
rs10075959	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10076568	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10939894	0.81[AFR][1000 genomes]
rs10939895	0.81[AFR][1000 genomes]
rs11741431	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11744226	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11745179	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11745233	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11745696	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11747588	0.81[AFR][1000 genomes]
rs11750566	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11949390	0.81[AFR][1000 genomes]
rs11954384	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13163684	0.89[EUR][1000 genomes]
rs13181515	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13181517	0.94[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13183007	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13183464	0.84[EUR][1000 genomes]
rs13185516	0.89[EUR][1000 genomes]
rs13186053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28409386	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs295565	0.84[ASN][1000 genomes]
rs35185283	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62366231	0.81[AFR][1000 genomes]
rs67749311	0.81[AFR][1000 genomes]
rs72759299	0.81[AFR][1000 genomes]
rs767634	0.83[EUR][1000 genomes]
rs9291707	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[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	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv598314	chr5:60374912-60459040	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60381000-60419400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:60395400-60428200	Weak transcription	HSMMtube	muscle
3	chr5:60396800-60420400	Weak transcription	Ovary	ovary
4	chr5:60398800-60453800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:60402800-60420600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:60411200-60420600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:60411200-60422400	Weak transcription	Aorta	Aorta
8	chr5:60415600-60421800	Weak transcription	Esophagus	oesophagus
9	chr5:60417200-60449400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:60418600-60419400	Enhancers	Stomach Mucosa	stomach
11	chr5:60418600-60419600	Enhancers	Fetal Intestine Small	intestine
12	chr5:60418800-60419400	Enhancers	HepG2	liver
13	chr5:60418800-60419600	Enhancers	Fetal Intestine Large	intestine
14	chr5:60419000-60419600	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr5:60419200-60419600	Active TSS	Rectal Mucosa Donor 29	rectum

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