Variant report

Variant	rs534883111
Chromosome Location	chr12:51610719-51610720
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51545382..51548232-chr12:51608906..51610842,2	K562	blood:
2	chr12:51441021..51443304-chr12:51610017..51612719,2	MCF-7	breast:
3	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
4	chr12:51475832..51478799-chr12:51610420..51612899,6	K562	blood:
5	chr12:51610491..51614628-chr12:51614796..51620409,6	K562	blood:
6	chr12:51610705..51611579-chr12:51632548..51633161,2	NB4	blood:
7	chr12:51610630..51613333-chr12:51630974..51632942,2	MCF-7	breast:
8	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
9	chr12:51474480..51479024-chr12:51609420..51613050,8	MCF-7	breast:
10	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:
11	chr12:51595711..51598749-chr12:51608220..51613018,6	K562	blood:
12	chr12:51610103..51612152-chr3:63848068..63850796,2	MCF-7	breast:
13	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
14	chr12:51563450..51568971-chr12:51609008..51613972,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163635	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000163634	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000269339	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv558876	chr12:51591367-51612730	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv3360919	chr12:51610110-51613058	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3439902	chr12:51610260-51612758	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51584400-51610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:51585000-51610800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:51592400-51610800	Weak transcription	Esophagus	oesophagus
4	chr12:51595200-51610800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:51597400-51611000	Weak transcription	Primary T cells from cord blood	blood
6	chr12:51605000-51611000	Weak transcription	Spleen	Spleen
7	chr12:51610000-51610800	Flanking Active TSS	Fetal Brain Female	brain
8	chr12:51610200-51610800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:51610200-51610800	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:51610200-51610800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:51610200-51610800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:51610200-51610800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr12:51610200-51610800	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr12:51610200-51610800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr12:51610200-51610800	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr12:51610200-51610800	Flanking Active TSS	Osteobl	bone
17	chr12:51610200-51611000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:51610200-51611000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:51610200-51612200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr12:51610200-51612200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:51610200-51612200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:51610200-51612200	Active TSS	Muscle Satellite Cultured Cells	--
23	chr12:51610200-51612400	Active TSS	Fetal Kidney	kidney
24	chr12:51610200-51612400	Active TSS	Right Ventricle	heart
25	chr12:51610200-51612800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:51610400-51610800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:51610400-51610800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr12:51610400-51610800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr12:51610400-51610800	Enhancers	Primary T cells fromperipheralblood	blood
30	chr12:51610400-51610800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:51610400-51610800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:51610400-51610800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:51610400-51610800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr12:51610400-51610800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:51610400-51610800	Enhancers	Liver	Liver
36	chr12:51610400-51610800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr12:51610400-51610800	Enhancers	HSMM	muscle
38	chr12:51610400-51610800	Flanking Active TSS	K562	blood
39	chr12:51610400-51611000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:51610400-51611000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr12:51610400-51611000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr12:51610400-51611000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:51610400-51611000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr12:51610400-51611000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr12:51610400-51611000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:51610400-51611000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:51610400-51611000	Flanking Active TSS	NH-A	brain
48	chr12:51610400-51611200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:51610400-51612200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:51610400-51612200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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