Variant report

Variant	rs12050199
Chromosome Location	chr14:69954290-69954291
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69951443..69953126-chr14:69953457..69956317,2	MCF-7	breast:
2	chr14:69951736..69954477-chr14:69954891..69957562,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175985	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1045301	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11537776	0.94[ASN][1000 genomes]
rs12050204	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12232173	0.89[JPT][hapmap]
rs12588551	0.94[ASN][1000 genomes]
rs12589107	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs12589533	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs12589991	0.88[JPT][hapmap]
rs12879303	0.88[JPT][hapmap]
rs12884978	0.89[JPT][hapmap]
rs12893687	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17106973	0.88[JPT][hapmap]
rs17107026	0.86[ASN][1000 genomes]
rs17107058	1.00[CHB][hapmap]
rs61980356	0.94[ASN][1000 genomes]
rs61982365	0.94[ASN][1000 genomes]
rs61982389	0.94[ASN][1000 genomes]
rs61982390	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61982402	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61982404	0.94[ASN][1000 genomes]
rs61982406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61982426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61982432	0.81[ASN][1000 genomes]
rs7144886	0.88[JPT][hapmap]
rs7145781	0.88[JPT][hapmap]
rs7155084	1.00[YRI][hapmap]
rs72625683	0.94[ASN][1000 genomes]
rs72625684	0.86[ASN][1000 genomes]
rs897329	0.94[AFR][1000 genomes];1.00[AMR][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	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1048882	chr14:69920881-69976694	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052107	chr14:69922552-69969297	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1039230	chr14:69922552-69972002	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1039192	chr14:69922552-69976694	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv456335	chr14:69928307-69971598	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv564967	chr14:69928307-69971598	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1050258	chr14:69942127-69976694	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69953600-69955000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:69953800-69955200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:69954200-69954400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
4	chr14:69954200-69954400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
5	chr14:69954200-69954400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
6	chr14:69954200-69954400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr14:69954200-69954800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr14:69954200-69954800	Enhancers	Lung	lung
9	chr14:69954200-69955000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:69954200-69955000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:69954200-69955000	Bivalent Enhancer	Fetal Muscle Leg	muscle

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