Variant report

Variant	rs548708935
Chromosome Location	chr12:56117758-56117759
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56115949..56118195-chr12:56224037..56226803,2	MCF-7	breast:
2	chr12:56117197..56125255-chr12:56135299..56142277,21	K562	blood:
3	chr12:56037529..56040108-chr12:56117252..56119317,2	K562	blood:
4	chr12:56088490..56090282-chr12:56117395..56118988,2	MCF-7	breast:
5	chr12:56075054..56077566-chr12:56115620..56119645,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135424	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000170439	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56111200-56120400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:56111600-56118400	Strong transcription	Thymus	Thymus
3	chr12:56112000-56117800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:56112200-56118000	Weak transcription	Fetal Lung	lung
5	chr12:56112400-56118000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:56112600-56118200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr12:56112600-56118800	Weak transcription	Small Intestine	intestine
8	chr12:56112800-56120800	Weak transcription	Fetal Brain Male	brain
9	chr12:56112800-56121000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:56113200-56118000	Weak transcription	Ovary	ovary
11	chr12:56113200-56118600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:56113200-56120000	Strong transcription	Brain Germinal Matrix	brain
13	chr12:56113200-56120800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:56114200-56117800	Strong transcription	Spleen	Spleen
15	chr12:56114200-56118600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:56114400-56117800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:56114400-56118000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:56114400-56118600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:56114400-56121000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:56114600-56118000	Weak transcription	Fetal Kidney	kidney
21	chr12:56114800-56118200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:56115000-56118600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:56115000-56118600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:56115000-56120400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:56115200-56118200	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:56115400-56117800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:56115400-56118000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:56115400-56118000	Weak transcription	Brain Angular Gyrus	brain
29	chr12:56115400-56118400	Weak transcription	K562	blood
30	chr12:56115400-56118600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:56115400-56120400	Genic enhancers	Fetal Intestine Large	intestine
32	chr12:56115400-56120400	Strong transcription	Fetal Stomach	stomach
33	chr12:56115400-56120600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:56115400-56121000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:56115400-56121200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:56115600-56117800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:56115600-56117800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:56115600-56117800	Weak transcription	Aorta	Aorta
39	chr12:56115600-56118000	Weak transcription	Hela-S3	cervix
40	chr12:56115600-56120400	Strong transcription	Lung	lung
41	chr12:56115600-56120600	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr12:56115600-56120800	Genic enhancers	Fetal Muscle Leg	muscle
43	chr12:56115800-56117800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:56115800-56117800	Weak transcription	Psoas Muscle	Psoas
45	chr12:56116000-56120600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:56116200-56117800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:56116200-56118600	Strong transcription	NHEK	skin
48	chr12:56116200-56120400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:56116400-56120400	Genic enhancers	Fetal Intestine Small	intestine
50	chr12:56116600-56117800	Strong transcription	Placenta	Placenta

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