Variant report

Variant	rs546208714
Chromosome Location	chr12:121342850-121342851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121340996-121343056	MCF10A-Er-Src	breast:	n/a	n/a
2	HCFC1	chr12:121341045-121343163	Hela-S3	cervix:	n/a	n/a
3	NRF1	chr12:121341924-121342867	SK-N-SH	brain:	n/a	chr12:121342022-121342031 chr12:121342251-121342262 chr12:121342169-121342178
4	CBX3	chr12:121342027-121342954	K562	blood:	n/a	n/a
5	SIN3A	chr12:121341099-121342872	H1-hESC	embryonic stem cell:	n/a	chr12:121341820-121341831 chr12:121342218-121342227
6	MXI1	chr12:121340581-121343068	SK-N-SH	brain:	n/a	n/a
7	USF1	chr12:121341877-121342853	HCT-116	colon:	n/a	chr12:121342198-121342211 chr12:121341911-121341927 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121341902-121341918 chr12:121341908-121341924 chr12:121341919-121341935 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342326-121342342 chr12:121341907-121341923 chr12:121341951-121341967 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
8	MXI1	chr12:121340253-121342852	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121342121..121344461-chr12:121350958..121352582,2	K562	blood:

Variant related genes	Relation type
SPPL3	TF binding region
ENSG00000231313	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3374315	chr12:121340794-121343342	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3384193	chr12:121341069-121343317	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv560448	chr12:121341477-121364324	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription 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	7 gene(s)	inside rSNPs	diseases
8	nsv560452	chr12:121341581-121357934	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv560453	chr12:121342186-121364324	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121340200-121343000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:121340400-121343000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:121340600-121343000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:121341000-121343000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr12:121342400-121343000	Flanking Active TSS	Brain Anterior Caudate	brain
6	chr12:121342400-121343000	Flanking Active TSS	Dnd41	blood
7	chr12:121342400-121345000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:121342600-121343000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:121342600-121343000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:121342600-121343000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:121342600-121343000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:121342600-121343200	Enhancers	Spleen	Spleen
13	chr12:121342600-121343200	Flanking Active TSS	HepG2	liver
14	chr12:121342600-121343400	Enhancers	Esophagus	oesophagus
15	chr12:121342600-121343800	Weak transcription	Psoas Muscle	Psoas
16	chr12:121342600-121345000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:121342600-121345000	Weak transcription	Aorta	Aorta
18	chr12:121342600-121345400	Weak transcription	Lung	lung
19	chr12:121342600-121345400	Weak transcription	Right Atrium	heart
20	chr12:121342600-121345800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:121342600-121345800	Enhancers	HMEC	breast
22	chr12:121342600-121346000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:121342600-121347600	Enhancers	Placenta	Placenta
24	chr12:121342800-121343000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:121342800-121343000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:121342800-121343000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:121342800-121343000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:121342800-121343000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:121342800-121343000	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr12:121342800-121343000	Enhancers	Colon Smooth Muscle	Colon
31	chr12:121342800-121343000	Enhancers	Duodenum Mucosa	Duodenum
32	chr12:121342800-121343000	Enhancers	Fetal Brain Female	brain
33	chr12:121342800-121343000	Enhancers	Fetal Heart	heart
34	chr12:121342800-121343000	Enhancers	Fetal Intestine Small	intestine
35	chr12:121342800-121343000	Enhancers	Fetal Lung	lung
36	chr12:121342800-121343000	Active TSS	Stomach Smooth Muscle	stomach
37	chr12:121342800-121343000	Enhancers	K562	blood
38	chr12:121342800-121343200	Enhancers	Fetal Brain Male	brain
39	chr12:121342800-121343200	Enhancers	Fetal Thymus	thymus
40	chr12:121342800-121343200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr12:121342800-121343800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:121342800-121343800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:121342800-121344000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:121342800-121344000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:121342800-121344400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:121342800-121344800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:121342800-121344800	Weak transcription	Hela-S3	cervix
48	chr12:121342800-121345000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:121342800-121345000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:121342800-121345000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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