Variant report

Variant	rs67309388
Chromosome Location	chr12:49685089-49685090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49683076..49686072-chr12:49740867..49742928,2	MCF-7	breast:
2	chr12:49680691..49694205-chr12:49725987..49738512,25	K562	blood:
3	chr12:49656956..49663896-chr12:49681239..49693031,16	K562	blood:
4	chr12:49685018..49687263-chr12:49715369..49717175,2	K562	blood:
5	chr12:49677107..49685653-chr12:49686694..49692276,10	MCF-7	breast:
6	chr12:49684454..49687869-chr12:49714567..49717463,3	K562	blood:
7	chr12:49656722..49663896-chr12:49682381..49687774,8	K562	blood:
8	chr12:49668368..49669871-chr12:49682424..49685316,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186897	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000135451	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10400435	0.85[ASN][1000 genomes]
rs10400567	0.85[ASN][1000 genomes]
rs11168973	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11168974	0.92[ASN][1000 genomes]
rs11168975	0.92[ASN][1000 genomes]
rs11503617	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11835037	0.83[AMR][1000 genomes]
rs11835303	0.89[ASN][1000 genomes]
rs12301545	0.83[AMR][1000 genomes]
rs12313488	0.96[ASN][1000 genomes]
rs12315095	0.83[AMR][1000 genomes]
rs12315130	0.83[AMR][1000 genomes]
rs12317532	0.83[AMR][1000 genomes]
rs12322335	0.83[AMR][1000 genomes]
rs12322783	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12580931	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822293	0.85[ASN][1000 genomes]
rs2070760	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236746	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28493849	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28543370	0.83[AMR][1000 genomes]
rs28691217	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28823960	0.81[AMR][1000 genomes]
rs28857010	0.81[AMR][1000 genomes]
rs3088008	0.89[ASN][1000 genomes]
rs4243545	0.89[ASN][1000 genomes]
rs4898504	0.96[ASN][1000 genomes]
rs4898515	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4898516	0.81[AMR][1000 genomes]
rs4898519	0.92[ASN][1000 genomes]
rs57241318	0.92[ASN][1000 genomes]
rs59575791	0.89[ASN][1000 genomes]
rs61023481	0.83[AMR][1000 genomes]
rs67236923	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs68030039	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7136538	0.83[AMR][1000 genomes]
rs7136945	0.83[AMR][1000 genomes]
rs7294873	0.83[AMR][1000 genomes]
rs7295247	0.83[AMR][1000 genomes]
rs73112143	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309977	0.89[ASN][1000 genomes]
rs7342318	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7342370	0.83[AMR][1000 genomes]
rs7342384	0.83[AMR][1000 genomes]
rs7488343	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	esv19135	chr12:49676002-49690399	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv558834	chr12:49676010-49691567	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49678200-49686800	Weak transcription	HSMM	muscle
2	chr12:49682200-49686800	Weak transcription	HSMMtube	muscle
3	chr12:49682800-49686800	Weak transcription	Hela-S3	cervix
4	chr12:49682800-49687000	Weak transcription	Right Atrium	heart
5	chr12:49683200-49686600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:49683200-49687000	Weak transcription	NHEK	skin
7	chr12:49683400-49686800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:49683400-49686800	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links