Variant report

Variant	rs555722597
Chromosome Location	chr12:51662983-51662984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51565300..51568760-chr12:51661642..51664290,3	K562	blood:
2	chr12:51661913..51666807-chr12:51714627..51721165,8	MCF-7	breast:
3	chr12:51474899..51477450-chr12:51661996..51663687,2	K562	blood:
4	chr12:51440322..51443098-chr12:51662230..51665433,4	K562	blood:
5	chr12:51662477..51664063-chr12:51717292..51718857,2	MCF-7	breast:
6	chr12:51630916..51632969-chr12:51661911..51664202,4	MCF-7	breast:
7	chr12:51631526..51635212-chr12:51662486..51664929,4	MCF-7	breast:
8	chr12:51397939..51400659-chr12:51662476..51664122,2	MCF-7	breast:
9	chr12:51661897..51665217-chr12:51739188..51742261,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000050426	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000110934	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000139610	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3405622	chr12:51662910-51665458	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51641600-51663000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:51642200-51663000	Weak transcription	Lung	lung
3	chr12:51653400-51663400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:51659400-51663000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:51659600-51663000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:51659600-51663000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:51659600-51663200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:51661000-51665000	Active TSS	Colonic Mucosa	Colon
9	chr12:51661200-51663000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:51661400-51664800	Active TSS	Esophagus	oesophagus
11	chr12:51661600-51663200	Active TSS	Rectal Smooth Muscle	rectum
12	chr12:51661600-51664600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:51661800-51664400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:51662200-51663000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:51662200-51663000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:51662200-51663000	Enhancers	HepG2	liver
17	chr12:51662400-51663000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:51662400-51663000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:51662600-51663000	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:51662600-51663000	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:51662600-51663000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:51662600-51663200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:51662600-51663200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:51662600-51663400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:51662600-51663400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:51662600-51663400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr12:51662600-51663400	Flanking Active TSS	NHEK	skin
28	chr12:51662600-51663600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:51662600-51663600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:51662600-51663600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:51662600-51663600	Flanking Active TSS	K562	blood
32	chr12:51662600-51663600	Flanking Active TSS	NH-A	brain
33	chr12:51662600-51664600	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr12:51662800-51663000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr12:51662800-51663000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr12:51662800-51663000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr12:51662800-51663000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr12:51662800-51663000	Active TSS	Primary B cells from cord blood	blood
39	chr12:51662800-51663000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr12:51662800-51663000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr12:51662800-51663000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:51662800-51663000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr12:51662800-51663000	Enhancers	Liver	Liver
44	chr12:51662800-51663000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:51662800-51663000	Active TSS	Fetal Intestine Large	intestine
46	chr12:51662800-51663000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr12:51662800-51663000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr12:51662800-51663000	Active TSS	A549	lung
49	chr12:51662800-51663000	Transcr. at gene 5' and 3'	HSMM	muscle
50	chr12:51662800-51663000	Active TSS	NHDF-Ad	bronchial

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