Variant report

Variant	rs560112345
Chromosome Location	chr5:177536299-177536300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr5:177535531-177536563	MCF-7	breast:	n/a	n/a
2	NFIC	chr5:177535857-177536496	ECC-1	luminal epithelium:	n/a	n/a
3	SPI1	chr5:177535929-177536309	GM12891	blood:	n/a	n/a
4	ZNF217	chr5:177534764-177536579	MCF-7	breast:	n/a	n/a
5	ESR1	chr5:177535980-177536352	ECC-1	luminal epithelium:	n/a	n/a
6	NFIC	chr5:177535789-177536523	ECC-1	luminal epithelium:	n/a	n/a
7	SPI1	chr5:177535858-177536336	HL-60	blood:	n/a	n/a
8	ELF1	chr5:177535980-177536373	GM12878	blood:	n/a	n/a
9	TEAD4	chr5:177535959-177536448	ECC-1	luminal epithelium:	n/a	n/a
10	MAZ	chr5:177535938-177536331	Hela-S3	cervix:	n/a	n/a
11	NR2F2	chr5:177534601-177536598	MCF-7	breast:	n/a	n/a
12	POLR2A	chr5:177536278-177536318	HUVEC	blood vessel:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177532919..177536961-chr5:177537813..177541921,4	K562	blood:

No data

Variant related genes	Relation type
N4BP3	TF binding region
ENSG00000145911	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv883186	chr5:177376317-177549491	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
4	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1021060	chr5:177386344-177539867	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv600391	chr5:177488281-177549491	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
8	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
9	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
12	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv883191	chr5:177535370-177551985	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
14	nsv883192	chr5:177535370-177564346	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177532000-177539800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:177532400-177539800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:177532400-177539800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:177532400-177539800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:177532800-177536600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:177533000-177536800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:177533200-177536600	Enhancers	Placenta	Placenta
8	chr5:177533400-177536600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:177533600-177536400	Enhancers	NHEK	skin
10	chr5:177533800-177536400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:177533800-177536600	Enhancers	HMEC	breast
12	chr5:177533800-177537400	Enhancers	Fetal Muscle Leg	muscle
13	chr5:177534000-177536600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr5:177534200-177536400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:177534400-177539600	Weak transcription	GM12878-XiMat	blood
16	chr5:177534800-177536400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:177535000-177536600	Enhancers	Fetal Heart	heart
18	chr5:177535000-177536800	Enhancers	Primary B cells from cord blood	blood
19	chr5:177535200-177536600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:177535200-177536600	Enhancers	Stomach Mucosa	stomach
21	chr5:177535400-177536400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr5:177535400-177536400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr5:177535400-177536400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:177535400-177536600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr5:177535400-177536600	Enhancers	Lung	lung
26	chr5:177535400-177536600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr5:177535400-177536600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
28	chr5:177535400-177536800	Enhancers	Primary B cells from peripheral blood	blood
29	chr5:177535600-177536400	Enhancers	Primary hematopoietic stem cells	blood
30	chr5:177535600-177536400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:177535600-177536400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:177535600-177536400	Enhancers	Adipose Nuclei	Adipose
33	chr5:177535600-177536600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:177535800-177536400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr5:177535800-177536400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:177535800-177536400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:177535800-177536400	Enhancers	Duodenum Mucosa	Duodenum
38	chr5:177535800-177536400	Enhancers	Gastric	stomach
39	chr5:177535800-177536600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:177535800-177536600	Enhancers	Esophagus	oesophagus
41	chr5:177535800-177539800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:177535800-177539800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:177536000-177536600	Enhancers	Spleen	Spleen
44	chr5:177536000-177539600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:177536000-177539800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr5:177536000-177540000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:177536000-177540000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:177536000-177540000	Weak transcription	Colonic Mucosa	Colon
49	chr5:177536200-177536400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr5:177536200-177536600	Enhancers	Hela-S3	cervix

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