Variant report

Variant	rs530775069
Chromosome Location	chr12:56139717-56139718
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56139474..56141266-chr12:56187183..56189811,2	MCF-7	breast:
2	chr12:56118873..56123597-chr12:56135421..56141775,11	K562	blood:
3	chr12:56137714..56140365-chr12:56357823..56359746,2	K562	blood:
4	chr12:56131110..56132920-chr12:56139527..56141888,2	K562	blood:
5	chr12:56135401..56138372-chr12:56138413..56141601,7	MCF-7	breast:
6	chr12:56112360..56117057-chr12:56137654..56141043,4	MCF-7	breast:
7	chr12:56136481..56142183-chr12:56210043..56213312,6	K562	blood:
8	chr12:56135568..56140230-chr12:56496911..56501047,5	K562	blood:
9	chr12:56110287..56112074-chr12:56139458..56141706,2	K562	blood:
10	chr12:56139597..56141342-chr12:56182890..56184805,2	MCF-7	breast:
11	chr12:56117197..56125255-chr12:56135299..56142277,21	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135441	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000135437	Chromatin interaction
ENSG00000258311	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000205323	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000170515	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv469410	chr12:56098038-56170893	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv559004	chr12:56098038-56170893	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv3418952	chr12:56138685-56140933	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	esv3403829	chr12:56139035-56140433	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56136200-56139800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:56136400-56140200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr12:56136600-56139800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr12:56136600-56140000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:56136600-56140000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:56136600-56140200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:56136600-56140600	Active TSS	Fetal Kidney	kidney
8	chr12:56137200-56140000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:56137400-56139800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:56137400-56140000	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr12:56137600-56140400	Enhancers	Fetal Brain Male	brain
12	chr12:56137800-56140800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:56138000-56140200	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr12:56138000-56144800	Weak transcription	Liver	Liver
15	chr12:56138000-56144800	Weak transcription	Lung	lung
16	chr12:56138000-56145000	Weak transcription	Gastric	stomach
17	chr12:56138200-56140000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:56138200-56140000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:56138200-56140000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:56138200-56142400	Weak transcription	Aorta	Aorta
21	chr12:56138200-56145200	Weak transcription	Esophagus	oesophagus
22	chr12:56138200-56150800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:56138400-56139800	Enhancers	Placenta	Placenta
24	chr12:56138400-56140000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:56138400-56140000	Enhancers	Fetal Heart	heart
26	chr12:56138400-56140600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr12:56138400-56140800	Enhancers	Primary B cells from peripheral blood	blood
28	chr12:56138400-56140800	Enhancers	NHDF-Ad	bronchial
29	chr12:56138400-56145000	Weak transcription	Pancreas	Pancrea
30	chr12:56138400-56145400	Weak transcription	NHEK	skin
31	chr12:56138800-56139800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:56138800-56140200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:56138800-56140400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr12:56138800-56140400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr12:56138800-56145000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:56138800-56145000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr12:56138800-56146200	Weak transcription	Small Intestine	intestine
38	chr12:56139000-56140000	Enhancers	Left Ventricle	heart
39	chr12:56139000-56140000	Genic enhancers	Right Atrium	heart
40	chr12:56139000-56140400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:56139000-56140600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr12:56139000-56143000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:56139200-56139800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:56139200-56139800	Enhancers	Primary T cells from cord blood	blood
45	chr12:56139200-56139800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:56139200-56140000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:56139200-56140000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:56139200-56140000	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr12:56139200-56140000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr12:56139200-56140200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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