Variant report

Variant	rs78817442
Chromosome Location	chr5:179640334-179640335
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	USF1	chr5:179639976-179640431	ECC-1	luminal epithelium:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640170-179640179 chr5:179640171-179640180
2	CTCF	chr5:179640260-179640410	HCM	heart:	n/a	chr5:179640372-179640385
3	CTCF	chr5:179640315-179640449	LNCaP	prostate:	n/a	chr5:179640372-179640385
4	CTCF	chr5:179640320-179640470	HEK293	kidney:	n/a	chr5:179640372-179640385
5	USF1	chr5:179639977-179640356	SK-N-SH	brain:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640170-179640179 chr5:179640171-179640180
6	MYC	chr5:179640164-179640338	MCF10A-Er-Src	breast:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640169-179640180
7	CTCF	chr5:179640220-179640370	A549	lung:	n/a	n/a
8	USF1	chr5:179639981-179640397	ECC-1	luminal epithelium:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640170-179640179 chr5:179640171-179640180
9	MXI1	chr5:179639511-179640461	SK-N-SH	brain:	n/a	n/a
10	MAX	chr5:179639924-179640395	MCF-7	breast:	n/a	chr5:179640170-179640179 chr5:179640169-179640180 chr5:179640020-179640030 chr5:179640169-179640180
11	USF2	chr5:179640062-179640352	Hela-S3	cervix:	n/a	chr5:179640170-179640179 chr5:179640170-179640179 chr5:179640171-179640180 chr5:179640169-179640180
12	CTCF	chr5:179640280-179640430	HPAF	blood vessel:	n/a	chr5:179640372-179640385

No.	Distal block	Cell Line	Cell type
1	chr13:40239269..40240269-chr5:179640269..179641206,2	MCF-7	breast:
2	chr5:179640079..179643387-chr5:179646560..179650820,4	K562	blood:
3	chr5:179638635..179640906-chr5:179719445..179721732,2	K562	blood:

Variant related genes	Relation type
RASGEF1C	TF binding region
ENSG00000248367	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
2	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
4	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	esv3339444	chr5:179638546-179643144	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3353801	chr5:179639246-179642644	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak 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	3 gene(s)	inside rSNPs	diseases
9	esv3381775	chr5:179639346-179642344	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3325478	chr5:179639646-179642344	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179635800-179640600	Weak transcription	Fetal Kidney	kidney
2	chr5:179636600-179640400	Weak transcription	Fetal Heart	heart
3	chr5:179636800-179640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:179638200-179640600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:179638800-179640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:179639200-179640400	Bivalent Enhancer	Fetal Stomach	stomach
7	chr5:179639400-179640600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:179639400-179640600	Enhancers	Colon Smooth Muscle	Colon
9	chr5:179639400-179640600	Enhancers	Rectal Smooth Muscle	rectum
10	chr5:179639600-179640400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:179639600-179640400	Enhancers	Brain Hippocampus Middle	brain
12	chr5:179639600-179640600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr5:179639800-179640400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:179639800-179640400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:179639800-179640400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:179639800-179640600	Enhancers	Pancreas	Pancrea
17	chr5:179639800-179641000	Enhancers	Esophagus	oesophagus
18	chr5:179640000-179640400	Enhancers	Brain Angular Gyrus	brain
19	chr5:179640000-179640400	Enhancers	Placenta	Placenta
20	chr5:179640000-179640600	Enhancers	Fetal Brain Male	brain

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