Variant report

Variant	rs56253344
Chromosome Location	chr12:32548350-32548351
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32547740..32549812-chr12:32551795..32554175,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139132	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1055875	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs191257	1.00[ASN][1000 genomes]
rs325433	1.00[ASN][1000 genomes]
rs325434	1.00[ASN][1000 genomes]
rs325435	1.00[ASN][1000 genomes]
rs34447944	1.00[AFR][1000 genomes]
rs35919769	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55686847	1.00[AFR][1000 genomes]
rs55843628	0.82[EUR][1000 genomes]
rs56141196	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56149636	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56205831	0.80[EUR][1000 genomes]
rs56262267	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56386122	1.00[AFR][1000 genomes]
rs7977216	0.93[EUR][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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv469346	chr12:32531220-32587465	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv558188	chr12:32531220-32587465	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32544200-32550800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:32544200-32551600	Weak transcription	Gastric	stomach
3	chr12:32544200-32551800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:32544400-32550600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:32544400-32551800	Weak transcription	Ovary	ovary
6	chr12:32544400-32551800	Weak transcription	HUVEC	blood vessel
7	chr12:32544600-32550800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:32544600-32551200	Weak transcription	Fetal Intestine Large	intestine
9	chr12:32544600-32551600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:32547600-32549200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:32547800-32548600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:32547800-32548800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:32547800-32548800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:32548000-32548400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr12:32548000-32548400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:32548000-32548400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:32548000-32548400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr12:32548000-32548400	Enhancers	A549	lung
19	chr12:32548000-32548600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:32548000-32548600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:32548000-32548800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:32548000-32549000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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