Variant report

Variant	rs7309243
Chromosome Location	chr12:49748797-49748798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49743602..49746884-chr12:49748711..49752212,3	K562	blood:
2	chr12:49747941..49749932-chr12:49965800..49968096,2	MCF-7	breast:
3	chr12:49658146..49659670-chr12:49747841..49750777,2	K562	blood:
4	chr12:49724830..49727128-chr12:49748718..49750720,2	MCF-7	breast:
5	chr12:49748406..49750091-chr12:49752162..49753928,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258101	Chromatin interaction
ENSG00000178401	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11830820	1.00[AMR][1000 genomes]
rs11836976	1.00[AMR][1000 genomes]
rs17853062	1.00[AMR][1000 genomes]
rs56005192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56014465	1.00[AMR][1000 genomes]
rs56140046	1.00[AMR][1000 genomes]
rs56330550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57546911	1.00[AMR][1000 genomes]
rs58557116	1.00[AMR][1000 genomes]
rs59493874	1.00[AMR][1000 genomes]
rs60712360	1.00[AMR][1000 genomes]
rs60865902	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61110708	1.00[AMR][1000 genomes]
rs7296117	1.00[AMR][1000 genomes]
rs7299056	1.00[AMR][1000 genomes]
rs74089008	1.00[AMR][1000 genomes]
rs74089010	1.00[AMR][1000 genomes]
rs74089028	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089030	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089031	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089060	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089561	1.00[AMR][1000 genomes]
rs74089565	1.00[AMR][1000 genomes]
rs74091029	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv1042122	chr12:49678529-49823168	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
7	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49742400-49750600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:49743400-49752200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:49743600-49750800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:49743600-49752400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:49743600-49752400	Weak transcription	Stomach Mucosa	stomach
6	chr12:49743800-49752400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:49744800-49752400	Weak transcription	HepG2	liver
8	chr12:49745400-49750800	Weak transcription	A549	lung
9	chr12:49745400-49752400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:49745800-49752200	Weak transcription	Fetal Intestine Large	intestine
11	chr12:49747400-49752400	Weak transcription	Liver	Liver
12	chr12:49747600-49752400	Weak transcription	Fetal Intestine Small	intestine

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