Variant report

Variant	rs533748908
Chromosome Location	chr12:66526530-66526531
allele	A/G
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	TCF12	chr12:66526165-66526737	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr12:66526152-66526601	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr12:66524161-66526647	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr12:66526160-66526954	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:66526024-66526559	HCT-116	colon:	n/a	n/a
6	POLR2A	chr12:66523650-66526889	K562	blood:	n/a	n/a
7	POLR2A	chr12:66526067-66526659	SK-N-SH	brain:	n/a	n/a
8	MEF2A	chr12:66526077-66526571	SK-N-SH	brain:	n/a	chr12:66526303-66526324 chr12:66526308-66526317 chr12:66526307-66526318 chr12:66526301-66526322 chr12:66526304-66526320 chr12:66526303-66526324 chr12:66526305-66526320
9	TEAD4	chr12:66526055-66526744	ECC-1	luminal epithelium:	n/a	n/a
10	TEAD4	chr12:66526103-66526701	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr12:66526323-66526578	HUVEC	blood vessel:	n/a	n/a
12	JUND	chr12:66526025-66526715	SK-N-SH	brain:	n/a	n/a
13	JUND	chr12:66526285-66526539	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr12:66525938-66526598	U87	brain:	n/a	n/a
15	POLR2A	chr12:66525935-66526584	U87	brain:	n/a	n/a
16	POLR2A	chr12:66525944-66526592	U87	brain:	n/a	n/a
17	JUND	chr12:66526096-66526656	SK-N-SH	brain:	n/a	n/a
18	FOS	chr12:66526171-66526547	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:66523792..66527078-chr12:66561013..66565049,6	MCF-7	breast:
2	chr12:66512970..66515802-chr12:66525883..66527400,2	MCF-7	breast:
3	chr12:66523081..66526604-chr12:66560988..66564576,8	MCF-7	breast:
4	chr12:66523095..66527368-chr12:66532414..66535159,4	MCF-7	breast:
5	chr12:66524156..66526872-chr12:66529144..66534313,4	K562	blood:
6	chr12:66524217..66527472-chr12:66531631..66536698,7	K562	blood:
7	chr12:66521057..66526734-chr12:66560807..66565257,7	K562	blood:
8	chr12:66526136..66528056-chr12:66612533..66614066,2	K562	blood:

Variant related genes	Relation type
LLPH	TF binding region
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899214	chr12:66516692-66556960	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv1009248	chr12:66525948-66530263	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66525000-66526600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr12:66525000-66526800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:66525000-66531200	Weak transcription	Lung	lung
4	chr12:66525000-66533200	Weak transcription	Gastric	stomach
5	chr12:66525200-66530000	Weak transcription	Placenta	Placenta
6	chr12:66525200-66533200	Weak transcription	Esophagus	oesophagus
7	chr12:66525200-66533200	Weak transcription	Pancreas	Pancrea
8	chr12:66525200-66534400	Weak transcription	Small Intestine	intestine
9	chr12:66525400-66526600	Weak transcription	Right Atrium	heart
10	chr12:66525400-66526800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:66525400-66526800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:66525400-66526800	Enhancers	HSMM	muscle
13	chr12:66525400-66526800	Enhancers	Osteobl	bone
14	chr12:66525400-66527000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:66525400-66527200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:66525400-66530000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:66525400-66530000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:66525400-66530000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:66525400-66530000	Weak transcription	Brain Germinal Matrix	brain
20	chr12:66525400-66530000	Weak transcription	Fetal Intestine Large	intestine
21	chr12:66525400-66530000	Weak transcription	Fetal Kidney	kidney
22	chr12:66525400-66530000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:66525400-66530200	Weak transcription	Ovary	ovary
24	chr12:66525400-66533200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:66525400-66533200	Weak transcription	Spleen	Spleen
26	chr12:66525400-66533400	Weak transcription	Aorta	Aorta
27	chr12:66525400-66533400	Weak transcription	Fetal Brain Male	brain
28	chr12:66525400-66534400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:66525400-66562400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:66525600-66526600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:66525600-66526600	Enhancers	Primary T cells from cord blood	blood
32	chr12:66525600-66526600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:66525600-66526600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr12:66525600-66526600	Enhancers	NHLF	lung
35	chr12:66525600-66526800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr12:66525600-66526800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr12:66525600-66526800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:66525600-66526800	Enhancers	Primary hematopoietic stem cells	blood
39	chr12:66525600-66526800	Enhancers	Duodenum Mucosa	Duodenum
40	chr12:66525600-66526800	Enhancers	Hela-S3	cervix
41	chr12:66525600-66526800	Enhancers	NHDF-Ad	bronchial
42	chr12:66525600-66527000	Enhancers	HUVEC	blood vessel
43	chr12:66525600-66527600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:66525600-66529800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:66525600-66530000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:66525600-66530000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr12:66525600-66530000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:66525600-66530000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:66525600-66530000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:66525600-66530000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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