Variant report

Variant	rs772258
Chromosome Location	chr12:56120768-56120769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56113532-56124497	U87	brain:	n/a	n/a
2	CHD1	chr12:56120323-56124349	IMR90	lung:	n/a	n/a
3	POLR2A	chr12:56120371-56121341	K562	blood:	n/a	n/a
4	TAL1	chr12:56120531-56120897	K562	blood:	n/a	n/a
5	POLR2A	chr12:56120605-56121224	K562	blood:	n/a	n/a
6	POLR2A	chr12:56120298-56122466	U87	brain:	n/a	n/a
7	SP1	chr12:56120351-56120802	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:56113243-56124503	U87	brain:	n/a	n/a
9	YY1	chr12:56120585-56120775	K562	blood:	n/a	n/a
10	POLR2A	chr12:56120252-56122128	U87	brain:	n/a	n/a
11	POLR2A	chr12:56120698-56121080	HepG2	liver:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56119665..56125098-chr12:56220794..56225708,11	MCF-7	breast:
2	chr12:56120003..56122736-chr12:56659216..56661326,3	K562	blood:
3	chr12:56120093..56124486-chr12:56434488..56437037,3	K562	blood:
4	chr12:56120515..56122201-chr12:56332595..56334238,2	K562	blood:
5	chr12:56117197..56125255-chr12:56135299..56142277,21	K562	blood:
6	chr12:56098994..56103683-chr12:56119699..56126107,8	MCF-7	breast:
7	chr12:56120734..56123554-chr12:56508983..56512643,4	K562	blood:
8	chr12:56104896..56106917-chr12:56120568..56123344,2	MCF-7	breast:
9	chr12:56120240..56124369-chr12:56508983..56513755,7	K562	blood:
10	chr12:56120591..56123197-chr12:56472700..56474357,3	MCF-7	breast:
11	chr12:56120533..56123958-chr12:56496918..56499602,3	K562	blood:
12	chr12:56119392..56124555-chr12:56134719..56139155,10	MCF-7	breast:
13	chr12:56118873..56123597-chr12:56135421..56141775,11	K562	blood:
14	chr12:56120505..56122635-chr12:56345271..56347933,2	K562	blood:
15	chr12:56120587..56125243-chr12:56320195..56323478,6	MCF-7	breast:
16	chr12:56119294..56126638-chr12:56434111..56441706,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258056	TF binding region
CD63	TF binding region
ENSG00000135424	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000135469	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000257390	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000065361	Chromatin interaction
ENSG00000197728	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000135392	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17117863	1.00[CHB][hapmap]
rs17117976	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17844785	1.00[ASN][1000 genomes]
rs17844786	1.00[ASN][1000 genomes]
rs17844787	1.00[ASN][1000 genomes]
rs2231467	1.00[ASN][1000 genomes]
rs60297652	1.00[ASN][1000 genomes]
rs6581081	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs715817	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs772255	1.00[CHB][hapmap]
rs7975037	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525231	chr12:56076919-56124332	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv559005	chr12:56117570-56120934	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
6	nsv559006	chr12:56118833-56120934	Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv559007	chr12:56118833-56121194	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv559008	chr12:56119594-56121194	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
9	nsv559009	chr12:56119683-56121194	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56112800-56120800	Weak transcription	Fetal Brain Male	brain
2	chr12:56112800-56121000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:56113200-56120800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:56114400-56121000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:56115400-56121000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:56115400-56121200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:56115600-56120800	Genic enhancers	Fetal Muscle Leg	muscle
8	chr12:56116600-56120800	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr12:56116600-56121800	Transcr. at gene 5' and 3'	HSMM	muscle
10	chr12:56116600-56122200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:56116800-56120800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:56116800-56120800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:56116800-56120800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:56116800-56120800	Genic enhancers	Left Ventricle	heart
15	chr12:56116800-56122200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:56117000-56120800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:56117000-56121200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:56117200-56121400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:56117400-56121200	Enhancers	Fetal Heart	heart
20	chr12:56117600-56120800	Genic enhancers	Gastric	stomach
21	chr12:56117600-56121000	Genic enhancers	Liver	Liver
22	chr12:56117600-56121000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
23	chr12:56117600-56122000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
24	chr12:56117800-56120800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:56117800-56120800	Genic enhancers	Placenta	Placenta
26	chr12:56117800-56121000	Genic enhancers	Monocytes-CD14+_RO01746	blood
27	chr12:56117800-56121200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:56117800-56122200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:56118000-56120800	Strong transcription	Fetal Kidney	kidney
30	chr12:56118000-56121000	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr12:56118200-56120800	Strong transcription	Esophagus	oesophagus
32	chr12:56118200-56120800	Weak transcription	Right Atrium	heart
33	chr12:56118200-56120800	Genic enhancers	Stomach Mucosa	stomach
34	chr12:56118200-56121000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:56118200-56121200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:56118200-56121600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
37	chr12:56118400-56121000	Strong transcription	Aorta	Aorta
38	chr12:56118600-56120800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr12:56118800-56121600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:56118800-56122000	Transcr. at gene 5' and 3'	NHLF	lung
41	chr12:56119000-56120800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr12:56119000-56120800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:56119000-56120800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:56119000-56120800	Strong transcription	Brain Substantia Nigra	brain
45	chr12:56119000-56121000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr12:56119000-56121400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
47	chr12:56119000-56121600	Transcr. at gene 5' and 3'	Osteobl	bone
48	chr12:56119200-56120800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:56119200-56120800	Strong transcription	Fetal Brain Female	brain
50	chr12:56119200-56121000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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