Variant report

Variant	rs188156499
Chromosome Location	chr5:44807127-44807128
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	RCOR1	chr5:44807093-44807703	Hela-S3	cervix:	n/a	n/a
2	STAT3	chr5:44807030-44807800	Hela-S3	cervix:	n/a	n/a
3	SMC3	chr5:44806928-44807728	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr5:44806972-44807745	Hela-S3	cervix:	n/a	n/a
5	RFX5	chr5:44807082-44807917	Hela-S3	cervix:	n/a	n/a
6	GTF2F1	chr5:44806588-44807717	Hela-S3	cervix:	n/a	n/a
7	USF2	chr5:44806985-44807870	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr5:44806992-44807689	Hela-S3	cervix:	n/a	n/a
9	MAZ	chr5:44806984-44807174	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43119582..43121268-chr5:44806761..44809128,2	K562	blood:

Variant related genes	Relation type
MRPS30	TF binding region
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830279	chr5:44688175-44860815	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv597933	chr5:44740989-44810740	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	n/a
4	nsv880712	chr5:44777878-44842260	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv881564	chr5:44783255-44914579	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv881629	chr5:44796042-44836788	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv881184	chr5:44796042-44842260	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv881280	chr5:44800665-44821736	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
9	nsv880618	chr5:44800665-44836788	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv881418	chr5:44800665-44869100	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv880397	chr5:44800665-44939293	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv462127	chr5:44803749-44834233	Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv597934	chr5:44803749-44834233	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	nsv880838	chr5:44805926-44836788	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
15	nsv881498	chr5:44805926-44842260	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44794200-44808600	Weak transcription	Aorta	Aorta
2	chr5:44802200-44807800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:44805400-44807400	Flanking Active TSS	Hela-S3	cervix
4	chr5:44806200-44807200	Enhancers	K562	blood
5	chr5:44806400-44807200	Enhancers	Brain Anterior Caudate	brain
6	chr5:44806400-44807200	Weak transcription	Fetal Lung	lung
7	chr5:44806400-44809000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:44806600-44808400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:44806800-44807200	Enhancers	Dnd41	blood
10	chr5:44806800-44807400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:44806800-44807400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:44806800-44807600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:44806800-44807800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:44806800-44808000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:44806800-44808200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:44806800-44808600	Enhancers	NHEK	skin
17	chr5:44807000-44807200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:44807000-44807400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr5:44807000-44807600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:44807000-44807800	Enhancers	HMEC	breast
21	chr5:44807000-44808200	Enhancers	GM12878-XiMat	blood

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