Variant report

Variant	rs199701273
Chromosome Location	chr5:14873940-14873941
allele	C/G
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	POLR2A	chr5:14873815-14874386	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:14873764-14873980	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:

Variant related genes	Relation type
ANKH	TF binding region
ENSG00000250662	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	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv969946	chr5:14867971-14880715	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv597258	chr5:14871848-14875868	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv597259	chr5:14871900-14875868	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription 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
10	esv1833901	chr5:14871952-14884822	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr5:14873000-14876200	Weak transcription	Aorta	Aorta
2	chr5:14873000-14882000	Weak transcription	Psoas Muscle	Psoas
3	chr5:14873200-14874000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:14873200-14874200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr5:14873200-14877200	Weak transcription	HMEC	breast
6	chr5:14873200-14879400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:14873200-14879600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:14873400-14874000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:14873400-14874000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:14873400-14874200	Enhancers	Dnd41	blood
11	chr5:14873400-14874800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:14873400-14874800	Enhancers	Liver	Liver
13	chr5:14873400-14875800	Weak transcription	Fetal Intestine Large	intestine
14	chr5:14873400-14876000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:14873400-14877800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:14873400-14880000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:14873400-14880400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:14873600-14874200	Enhancers	HepG2	liver
19	chr5:14873600-14879800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:14873800-14876000	Weak transcription	Fetal Intestine Small	intestine

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