Variant report

Variant	rs189170463
Chromosome Location	chr12:56053722-56053723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:194)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:194 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr12:56053634-56053794	Hela-S3	cervix:	n/a	n/a
2	SMC3	chr12:56053591-56053975	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr12:56053680-56053830	GM12869	blood:	n/a	n/a
4	CTCF	chr12:56053180-56054468	A549	lung:	n/a	n/a
5	CTCF	chr12:56053660-56053810	SAEC	small airway:	n/a	n/a
6	TEAD4	chr12:56053235-56053865	K562	blood:	n/a	n/a
7	CTCF	chr12:56053640-56053790	GM12865	blood:	n/a	n/a
8	CTCF	chr12:56053700-56053850	GM12870	blood:	n/a	n/a
9	CTCF	chr12:56053660-56053810	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr12:56053592-56053949	IMR90	lung:	n/a	n/a
11	CTCF	chr12:56053720-56053870	GM12873	blood:	n/a	n/a
12	CTCF	chr12:56053672-56053835	LNCaP	prostate:	n/a	n/a
13	CTCF	chr12:56053612-56053891	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr12:56053454-56054182	HCT-116	colon:	n/a	n/a
15	CTCF	chr12:56053680-56053830	Caco-2	colon:	n/a	n/a
16	CTCF	chr12:56053639-56053865	GM13977	blood:	n/a	n/a
17	CTCF	chr12:56053680-56053830	AG09309	skin:	n/a	n/a
18	CTCF	chr12:56053636-56053852	HepG2	liver:	n/a	n/a
19	CTCF	chr12:56053660-56053810	AG09319	gingival:	n/a	n/a
20	CTCF	chr12:56053660-56053810	GM12875	blood:	n/a	n/a
21	SMC3	chr12:56053600-56053868	HepG2	liver:	n/a	n/a
22	RAD21	chr12:56053483-56053904	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr12:56053686-56053833	GM20000	blood:	n/a	n/a
24	CTCF	chr12:56053660-56053810	HCFaa	heart:	n/a	n/a
25	CTCF	chr12:56053680-56053830	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr12:56053639-56053871	GM19240	blood:	n/a	n/a
27	TEAD4	chr12:56053517-56053972	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr12:56053660-56053810	GM06990	blood:	n/a	n/a
29	CTCF	chr12:56053613-56053885	GM19238	blood:	n/a	n/a
30	CTCF	chr12:56053640-56053790	HAc	cerebellar:	n/a	n/a
31	CTCF	chr12:56053700-56053850	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr12:56053660-56053810	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr12:56053680-56053830	HPF	lung:	n/a	n/a
34	CTCF	chr12:56053700-56053850	BJ	skin:	n/a	n/a
35	CTCF	chr12:56053680-56053830	GM06990	blood:	n/a	n/a
36	EBF1	chr12:56053640-56053937	GM12878	blood:	n/a	chr12:56053815-56053826
37	ZKSCAN1	chr12:56053603-56053752	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr12:56053660-56053810	GM12864	blood:	n/a	n/a
39	RAD21	chr12:56053601-56053932	A549	lung:	n/a	n/a
40	CTCF	chr12:56053660-56053810	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr12:56053660-56053810	NB4	blood:	n/a	n/a
42	RAD21	chr12:56053510-56054069	HCT-116	colon:	n/a	n/a
43	CTCF	chr12:56053680-56053830	BJ	skin:	n/a	n/a
44	CTCF	chr12:56053587-56053893	K562	blood:	n/a	n/a
45	CTCF	chr12:56053680-56053830	AG04449	skin:	n/a	n/a
46	CTCF	chr12:56053640-56053790	MCF-7	breast:	n/a	n/a
47	CTCF	chr12:56053600-56053750	HFF-Myc	foreskin:	n/a	n/a
48	CTCF	chr12:56053506-56053957	MCF-7	breast:	n/a	n/a
49	CTCF	chr12:56053624-56053878	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr12:56053700-56053850	HRPEpiC	eye:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56052433..56055295-chr12:56110184..56112176,2	MCF-7	breast:
2	chr12:56053257..56054156-chr12:56114472..56115116,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258907	TF binding region
ENSG00000258921	TF binding region
ENSG00000258311	Chromatin interaction
ENSG00000135441	Chromatin interaction
ENSG00000135437	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	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
3	nsv983332	chr12:56053056-56058855	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56049800-56054200	Enhancers	Fetal Intestine Small	intestine
2	chr12:56051400-56054400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:56052200-56053800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr12:56052600-56053800	Enhancers	Psoas Muscle	Psoas
5	chr12:56052600-56053800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:56052600-56054200	Enhancers	Rectal Smooth Muscle	rectum
7	chr12:56052800-56053800	Enhancers	Ovary	ovary
8	chr12:56052800-56054200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:56053000-56053800	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:56053000-56053800	Enhancers	Osteobl	bone
11	chr12:56053200-56053800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:56053400-56053800	Enhancers	Left Ventricle	heart
13	chr12:56053400-56053800	Flanking Active TSS	HSMM	muscle
14	chr12:56053600-56053800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr12:56053600-56054200	Enhancers	K562	blood
16	chr12:56053600-56054400	Enhancers	Fetal Heart	heart

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