Variant report

Variant	rs73119690
Chromosome Location	chr12:50428969-50428970
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	chr12:50416768..50419676-chr12:50428143..50430266,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161800	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10161020	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10161120	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875992	0.98[EUR][1000 genomes]
rs10875993	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169232	0.84[EUR][1000 genomes]
rs11169234	0.94[EUR][1000 genomes]
rs11169247	0.96[EUR][1000 genomes]
rs11169256	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169259	1.00[EUR][1000 genomes]
rs11169260	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11835014	0.80[EUR][1000 genomes]
rs11836389	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12298110	0.98[EUR][1000 genomes]
rs12311010	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317586	0.92[EUR][1000 genomes]
rs17124264	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2291612	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2292720	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs378943	0.94[EUR][1000 genomes]
rs4297542	0.98[EUR][1000 genomes]
rs55634523	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55652312	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55802497	0.98[EUR][1000 genomes]
rs55936104	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55990533	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56099252	0.96[EUR][1000 genomes]
rs56159935	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56232366	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56259551	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57014171	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57045365	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60000653	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60042968	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60456498	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60905953	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs611434	0.92[EUR][1000 genomes]
rs615382	0.94[EUR][1000 genomes]
rs629754	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs661823	0.81[EUR][1000 genomes]
rs694851	0.94[EUR][1000 genomes]
rs706785	0.82[EUR][1000 genomes]
rs7131715	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7303531	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7306035	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308994	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7309480	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7309940	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7309966	0.98[EUR][1000 genomes]
rs73119648	0.80[EUR][1000 genomes]
rs73119651	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73119660	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73119664	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73119671	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73119681	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73119686	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73119688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961683	0.98[EUR][1000 genomes]
rs7972522	0.98[EUR][1000 genomes]
rs7979958	0.98[EUR][1000 genomes]
rs9325146	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9669608	0.98[EUR][1000 genomes];0.83[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 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	chr12:50427000-50432800	Weak transcription	HMEC	breast
2	chr12:50427000-50434800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:50427200-50432800	Weak transcription	Fetal Heart	heart
4	chr12:50427400-50429200	Enhancers	HepG2	liver
5	chr12:50427400-50429800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:50427800-50429200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:50427800-50433000	Weak transcription	Placenta	Placenta
8	chr12:50428000-50430000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:50428000-50433400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:50428400-50431800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:50428400-50432000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:50428400-50432400	Weak transcription	NHEK	skin
13	chr12:50428400-50432800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:50428600-50432000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr12:50428600-50432000	Weak transcription	Monocytes-CD14+_RO01746	blood

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