Variant report

Variant	rs553601110
Chromosome Location	chr12:32636571-32636572
allele	A/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	MAFF	chr12:32636460-32636815	HepG2	liver:	n/a	n/a
2	MAFK	chr12:32636451-32636809	HepG2	liver:	n/a	chr12:32636626-32636637 chr12:32636626-32636641 chr12:32636627-32636638 chr12:32636626-32636642 chr12:32636627-32636638 chr12:32636625-32636639 chr12:32636626-32636637 chr12:32636629-32636646
3	CTCF	chr12:32636460-32636610	HCPEpiC	choroid plexus:	n/a	n/a
4	MAFK	chr12:32636544-32636780	Hela-S3	cervix:	n/a	chr12:32636626-32636637 chr12:32636626-32636641 chr12:32636627-32636638 chr12:32636626-32636642 chr12:32636627-32636638 chr12:32636625-32636639 chr12:32636626-32636637 chr12:32636629-32636646
5	MAFF	chr12:32636522-32636780	K562	blood:	n/a	n/a
6	MAFK	chr12:32636456-32636811	HepG2	liver:	n/a	chr12:32636626-32636637 chr12:32636626-32636641 chr12:32636627-32636638 chr12:32636626-32636642 chr12:32636627-32636638 chr12:32636625-32636639 chr12:32636626-32636637 chr12:32636629-32636646
7	MAFK	chr12:32636473-32636787	IMR90	lung:	n/a	chr12:32636626-32636637 chr12:32636626-32636641 chr12:32636627-32636638 chr12:32636626-32636642 chr12:32636627-32636638 chr12:32636625-32636639 chr12:32636626-32636637 chr12:32636629-32636646
8	SPI1	chr12:32636430-32636951	HL-60	blood:	n/a	n/a
9	SPI1	chr12:32636520-32636924	HL-60	blood:	n/a	n/a
10	ELF1	chr12:32636566-32636748	K562	blood:	n/a	chr12:32636679-32636692
11	MAFK	chr12:32636503-32636730	K562	blood:	n/a	chr12:32636626-32636637 chr12:32636626-32636641 chr12:32636627-32636638 chr12:32636626-32636642 chr12:32636627-32636638 chr12:32636625-32636639 chr12:32636626-32636637 chr12:32636629-32636646

Variant related genes	Relation type
FGD4	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv898970	chr12:32622097-32680236	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1795417	chr12:32635183-32648257	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
2	chr12:32610800-32639000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:32616000-32638600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:32619600-32642000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:32621800-32654000	Weak transcription	Lung	lung
6	chr12:32625000-32655800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:32625200-32655200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:32627200-32638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:32628600-32637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:32629400-32643600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:32629600-32643000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:32630000-32638800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:32630800-32638000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:32631400-32636600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:32631600-32638800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:32631800-32636600	Weak transcription	Small Intestine	intestine
17	chr12:32631800-32643600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:32632000-32643600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr12:32633200-32638600	Weak transcription	Fetal Intestine Large	intestine
20	chr12:32633800-32637600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr12:32634000-32655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:32634200-32638200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:32634400-32636800	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:32634400-32638600	Enhancers	HUVEC	blood vessel
25	chr12:32634800-32636800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:32634800-32637200	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:32634800-32638400	Weak transcription	Placenta	Placenta
28	chr12:32635200-32636600	Enhancers	HSMMtube	muscle
29	chr12:32635200-32636800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr12:32635200-32637000	Enhancers	Fetal Heart	heart
31	chr12:32635400-32636600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:32635600-32636800	Enhancers	Adipose Nuclei	Adipose
33	chr12:32635800-32636600	Enhancers	Fetal Brain Female	brain
34	chr12:32635800-32636800	Enhancers	Duodenum Mucosa	Duodenum
35	chr12:32635800-32636800	Enhancers	Fetal Intestine Small	intestine
36	chr12:32635800-32637200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr12:32635800-32638800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:32636000-32636800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:32636000-32637000	Enhancers	Primary B cells from cord blood	blood
40	chr12:32636000-32637000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:32636000-32637400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:32636000-32637600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:32636200-32636800	Enhancers	Fetal Brain Male	brain
44	chr12:32636200-32636800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr12:32636200-32636800	Enhancers	Stomach Mucosa	stomach
46	chr12:32636200-32636800	Enhancers	HSMM	muscle
47	chr12:32636200-32637000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:32636200-32637200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:32636200-32637600	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr12:32636400-32636600	Enhancers	Sigmoid Colon	Sigmoid Colon

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