Variant report

Variant	rs59763550
Chromosome Location	chr13:52770077-52770078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr13:52769407-52770163	MCF-7	breast:	n/a	n/a
2	POLR2A	chr13:52769334-52770094	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr13:52769478-52770099	HUVEC	blood vessel:	n/a	n/a
4	SIN3AK20	chr13:52769473-52770083	MCF-7	breast:	n/a	n/a
5	POLR2A	chr13:52769384-52770186	MCF-7	breast:	n/a	n/a
6	MAX	chr13:52769493-52770111	H1-hESC	embryonic stem cell:	n/a	chr13:52769583-52769593
7	POLR2A	chr13:52769378-52770167	MCF-7	breast:	n/a	n/a
8	E2F6	chr13:52769512-52770104	H1-hESC	embryonic stem cell:	n/a	chr13:52769831-52769838 chr13:52769830-52769842 chr13:52769831-52769838 chr13:52769831-52769838
9	POLR2A	chr13:52769531-52770120	ProgFib	skin:	n/a	n/a
10	POLR2A	chr13:52769425-52770084	GM15510	blood:	n/a	n/a
11	POLR2A	chr13:52769330-52770079	GM12878	blood:	n/a	n/a
12	E2F6	chr13:52769149-52770105	H1-hESC	embryonic stem cell:	n/a	chr13:52769831-52769838 chr13:52769830-52769842 chr13:52769831-52769838 chr13:52769831-52769838
13	ELF1	chr13:52769402-52770121	GM12878	blood:	n/a	n/a
14	MAX	chr13:52769420-52770105	MCF-7	breast:	n/a	chr13:52769583-52769593
15	POLR2A	chr13:52769428-52770142	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52377591..52379548-chr13:52768375..52770242,2	K562	blood:
2	chr13:52377651..52379551-chr13:52768569..52770283,3	MCF-7	breast:

Variant related genes	Relation type
MRPS31P5	TF binding region
ENSG00000231856	Chromatin interaction
ENSG00000102796	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1000892	0.85[AMR][1000 genomes]
rs17404248	0.85[AMR][1000 genomes]
rs17482550	0.85[AMR][1000 genomes]
rs17482660	0.85[AMR][1000 genomes]
rs17536694	0.96[AMR][1000 genomes]
rs1886540	0.85[AMR][1000 genomes]
rs1886541	0.85[AMR][1000 genomes]
rs4480685	0.86[AMR][1000 genomes]
rs4943065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55696957	0.86[AMR][1000 genomes]
rs55969405	0.85[AMR][1000 genomes]
rs57604069	0.92[AMR][1000 genomes]
rs59924615	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61247071	0.96[AMR][1000 genomes]
rs7317742	1.00[AMR][1000 genomes]
rs7325357	1.00[AMR][1000 genomes]
rs7332381	1.00[AMR][1000 genomes]
rs73500202	0.92[AMR][1000 genomes]
rs73502304	0.92[AMR][1000 genomes]
rs73502323	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7400215	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1037567	chr13:52643647-52802799	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52767200-52770200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:52767600-52770200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr13:52767800-52770200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:52768600-52770200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:52769200-52775000	Weak transcription	HepG2	liver
6	chr13:52769400-52778600	Weak transcription	K562	blood
7	chr13:52769800-52770200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:52770000-52770200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:52770000-52770200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:52770000-52770200	Enhancers	Fetal Muscle Leg	muscle
11	chr13:52770000-52770200	Active TSS	Stomach Smooth Muscle	stomach
12	chr13:52770000-52770400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr13:52770000-52770600	Enhancers	Right Ventricle	heart
14	chr13:52770000-52770800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr13:52770000-52774200	Weak transcription	Fetal Heart	heart
16	chr13:52770000-52774200	Weak transcription	Fetal Intestine Large	intestine
17	chr13:52770000-52775800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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