Variant report

Variant	rs546222869
Chromosome Location	chr4:69242217-69242218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69212970..69215845-chr4:69239349..69242311,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083896	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv537132	chr4:69149648-69482831	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv2757061	chr4:69178920-69631668	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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 target site	23 gene(s)	inside rSNPs	diseases
6	nsv437385	chr4:69204755-69383357	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv437386	chr4:69213885-69383357	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1006223	chr4:69217756-69540013	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases
9	nsv870075	chr4:69218674-69608683	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3407776	chr4:69222857-69376755	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv3442208	chr4:69222907-69288205	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv879223	chr4:69223057-69592846	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv3397664	chr4:69223455-69592846	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv3468149	chr4:69223455-69592846	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	esv3468150	chr4:69223455-69592846	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv879224	chr4:69241928-69382080	Enhancers Active TSS Weak transcription Flanking Active TSS 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	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69232200-69255600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:69235800-69243000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:69240000-69245000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:69241400-69242400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr4:69241600-69242400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr4:69241600-69242400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr4:69241600-69242400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:69241600-69242400	Enhancers	Liver	Liver
9	chr4:69241800-69242400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:69241800-69242400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr4:69241800-69242400	Enhancers	Primary B cells from peripheral blood	blood
12	chr4:69241800-69242400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:69241800-69242400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:69241800-69242400	Active TSS	Fetal Intestine Large	intestine
15	chr4:69241800-69242400	Active TSS	Fetal Intestine Small	intestine
16	chr4:69241800-69242400	Active TSS	A549	lung
17	chr4:69241800-69242800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:69241800-69249000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:69242000-69242400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:69242000-69242400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:69242000-69242400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr4:69242000-69242400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr4:69242000-69242400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:69242000-69242400	Bivalent/Poised TSS	HUVEC	blood vessel
25	chr4:69242000-69243000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:69242200-69242400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr4:69242200-69242400	Enhancers	Primary hematopoietic stem cells	blood
28	chr4:69242200-69242400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:69242200-69242400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:69242200-69242400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:69242200-69242400	Active TSS	Colonic Mucosa	Colon
32	chr4:69242200-69242400	Enhancers	Esophagus	oesophagus
33	chr4:69242200-69242400	Active TSS	HepG2	liver
34	chr4:69242200-69242400	Active TSS	HMEC	breast
35	chr4:69242200-69244200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:69242200-69244200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:69242200-69245000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr4:69242200-69245000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:69242200-69245600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:69242200-69255400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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