Variant report

Variant	rs536152779
Chromosome Location	chr12:58147712-58147713
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr12:58147642-58147977	K562	blood:	n/a	n/a
2	POLR2A	chr12:58147697-58147952	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:58147339-58147964	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:58147683-58147744	K562	blood:	n/a	n/a
5	UBTF	chr12:58147700-58147900	K562	blood:	n/a	n/a
6	TBL1XR1	chr12:58147454-58148074	K562	blood:	n/a	n/a
7	MAFK	chr12:58147711-58147930	K562	blood:	n/a	n/a
8	STAT3	chr12:58147540-58147740	MCF10A-Er-Src	breast:	n/a	n/a
9	TAL1	chr12:58147576-58147959	K562	blood:	n/a	chr12:58147658-58147667

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58003234..58004876-chr12:58145695..58148256,2	K562	blood:
2	chr12:57914860..57917603-chr12:58144909..58148802,3	K562	blood:
3	chr12:58146971..58149952-chr17:56735164..56736689,2	MCF-7	breast:
4	chr12:58013150..58015350-chr12:58146267..58147778,2	K562	blood:
5	chr12:57912818..57918945-chr12:58145879..58149998,6	MCF-7	breast:
6	chr12:58144944..58148202-chr12:58236897..58241575,4	MCF-7	breast:
7	chr12:58146595..58149356-chr12:58175469..58178051,2	K562	blood:
8	chr12:58144058..58148099-chr12:58238749..58241436,3	K562	blood:
9	chr12:57909291..57914221-chr12:58144639..58148673,6	K562	blood:
10	chr12:57915553..57917499-chr12:58144787..58147876,3	K562	blood:

No data

Variant related genes	Relation type
CDK4	TF binding region
MARCH9	TF binding region
ENSG00000208028	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000123297	Chromatin interaction
ENSG00000135502	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv899123	chr12:58118248-58155023	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv826384	chr12:58124758-58157850	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription 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 miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv826386	chr12:58135303-58150535	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	esv3374332	chr12:58147710-58151058	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58146200-58147800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:58146200-58148000	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr12:58146200-58148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:58146200-58148200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:58146200-58148200	Weak transcription	Lung	lung
6	chr12:58146200-58148400	Weak transcription	Small Intestine	intestine
7	chr12:58146200-58148600	Weak transcription	Aorta	Aorta
8	chr12:58146400-58148200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:58146400-58148800	Flanking Active TSS	K562	blood
10	chr12:58146600-58148200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:58146600-58148200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:58146600-58148200	Weak transcription	Esophagus	oesophagus
13	chr12:58146600-58148200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:58146600-58148200	Weak transcription	Gastric	stomach
15	chr12:58146600-58148200	Weak transcription	Left Ventricle	heart
16	chr12:58146600-58148200	Weak transcription	Spleen	Spleen
17	chr12:58146600-58148400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:58146600-58148400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:58146800-58147800	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:58146800-58147800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr12:58146800-58147800	Weak transcription	Right Ventricle	heart
22	chr12:58146800-58148000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr12:58146800-58148000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr12:58146800-58148000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:58146800-58148000	Enhancers	Primary T cells from cord blood	blood
26	chr12:58146800-58148000	Enhancers	Hela-S3	cervix
27	chr12:58146800-58148200	Enhancers	Primary B cells from cord blood	blood
28	chr12:58146800-58148200	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:58146800-58148200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr12:58146800-58148200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr12:58146800-58148200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:58146800-58148200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:58146800-58148200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr12:58146800-58148200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:58146800-58148200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:58146800-58148200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:58146800-58148200	Weak transcription	Brain Substantia Nigra	brain
38	chr12:58146800-58148200	Weak transcription	Colonic Mucosa	Colon
39	chr12:58146800-58148200	Enhancers	Fetal Intestine Large	intestine
40	chr12:58146800-58148200	Enhancers	Fetal Stomach	stomach
41	chr12:58146800-58148200	Enhancers	Fetal Thymus	thymus
42	chr12:58146800-58148200	Weak transcription	Psoas Muscle	Psoas
43	chr12:58146800-58148200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr12:58146800-58148200	Weak transcription	Right Atrium	heart
45	chr12:58146800-58148200	Enhancers	Thymus	Thymus
46	chr12:58146800-58148200	Enhancers	HMEC	breast
47	chr12:58146800-58148400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:58146800-58148400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:58146800-58148400	Weak transcription	Ovary	ovary
50	chr12:58147000-58147800	Enhancers	Fetal Kidney	kidney

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