Variant report

Variant	rs556066325
Chromosome Location	chr11:46741453-46741454
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46739568-46742670	HepG2	liver:	n/a	n/a
2	MXI1	chr11:46741451-46741725	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:46739545-46758468	HepG2	liver:	n/a	n/a
4	MYBL2	chr11:46741405-46742145	HepG2	liver:	n/a	n/a
5	MAX	chr11:46739543-46741963	HepG2	liver:	n/a	chr11:46741848-46741858
6	MYBL2	chr11:46739485-46741464	HepG2	liver:	n/a	n/a
7	HEY1	chr11:46740465-46742012	HepG2	liver:	n/a	n/a
8	HEY1	chr11:46739579-46742651	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:46740457-46742643	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:46740464-46741688	HepG2	liver:	n/a	n/a
11	POLR2A	chr11:46740525-46741766	HepG2	liver:	n/a	n/a
12	TAF1	chr11:46740552-46741855	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:46740441-46741919	HepG2	liver:	n/a	n/a
14	RCOR1	chr11:46741219-46741532	HepG2	liver:	n/a	n/a
15	YY1	chr11:46740445-46741622	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:46741405-46741455	GM12891	blood:	n/a
2	chr11:46741405-46741455	ECC-1	luminal epithelium:	n/a
3	chr11:46741405-46741455	H1-hESC	embryonic stem cell:	embryo
4	chr11:46741405-46741455	HRCEpiC	kidney:	n/a
5	chr11:46741405-46741455	AG04449	skin:	fetal
6	chr11:46741405-46741455	K562	blood:	n/a
7	chr11:46741405-46741455	GM12892	blood:	n/a
8	chr11:46741405-46741455	BJ	skin:	n/a
9	chr11:46741405-46741455	ovcar-3	ovarian:	n/a
10	chr11:46741405-46741455	NH-A	brain:	n/a
11	chr11:46741405-46741455	PANC-1	pancreas:	n/a
12	chr11:46741405-46741455	HIPEpiC	eye:	n/a
13	chr11:46741405-46741455	Caco-2	colon:	n/a
14	chr11:46741405-46741455	HUVEC	blood vessel:	n/a
15	chr11:46741405-46741455	SK-N-SH	brain:	n/a
16	chr11:46741405-46741455	HAEpiC	amniotic membrane:	n/a
17	chr11:46741405-46741455	HepG2	liver:	n/a
18	chr11:46741405-46741455	LNCaP	prostate:	n/a
19	chr11:46741405-46741455	AoSMC	blood vessel:	n/a
20	chr11:46741405-46741455	ProgFib	skin:	n/a
21	chr11:46741405-46741455	HCM	heart:	n/a
22	chr11:46741405-46741455	HRE	kidney:	n/a
23	chr11:46741405-46741455	RPTEC	kidney:	n/a
24	chr11:46741405-46741455	SK-N-SH_RA	brain:	n/a
25	chr11:46741405-46741455	A549	lung:	n/a
26	chr11:46741405-46741455	SKMC	muscle:	n/a
27	chr11:46741405-46741455	HEK293	kidney:	embryo
28	chr11:46741405-46741455	AG10803	skin:	n/a
29	chr11:46741405-46741455	HCT-116	colon:	n/a
30	chr11:46741405-46741455	Jurkat	blood:	n/a
31	chr11:46741405-46741455	AG09319	gingival:	n/a
32	chr11:46741405-46741455	HL-60	blood:	n/a
33	chr11:46741405-46741455	SAEC	small airway:	n/a
34	chr11:46741405-46741455	AG09309	skin:	n/a
35	chr11:46741405-46741455	GM19239	blood:	n/a
36	chr11:46741405-46741455	Hepatocyte	liver:	n/a
37	chr11:46741405-46741455	NT2-D1	testis:	n/a
38	chr11:46741405-46741455	NHBE	bronchial:	n/a
39	chr11:46741405-46741455	MCF-7	breast:	n/a
40	chr11:46741405-46741455	T-47D	breast:	n/a
41	chr11:46741405-46741455	NHDF-neo	bronchial:	n/a
42	chr11:46741405-46741455	CMK	blood:	n/a
43	chr11:46741405-46741455	GM06990	blood:	n/a
44	chr11:46741405-46741455	HCF	heart:	n/a
45	chr11:46741405-46741455	Hela-S3	cervix:	n/a
46	chr11:46741405-46741455	HMEC	breast:	n/a
47	chr11:46741405-46741455	IMR90	lung:	fetal
48	chr11:46741405-46741455	GM12878	blood:	n/a
49	chr11:46741405-46741455	PFSK-1	brain:	n/a
50	chr11:46741405-46741455	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46721125..46723767-chr11:46740816..46743369,3	K562	blood:
2	chr11:46402912..46405362-chr11:46740261..46742073,2	K562	blood:

No data

Variant related genes	Relation type
F2	TF binding region
F2	CpG island
ENSG00000175213	Chromatin interaction
ENSG00000175220	Chromatin interaction
ENSG00000110492	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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv897322	chr11:46739748-46748916	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3474063	chr11:46740876-46745174	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3474074	chr11:46740876-46745174	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 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	chr11:46728800-46745600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:46728800-46745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:46739600-46741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:46739800-46742000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:46739800-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:46740000-46742400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:46740200-46744400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:46740200-46745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:46740200-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:46740400-46745600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:46740600-46742800	Active TSS	Liver	Liver
12	chr11:46740800-46741800	Bivalent/Poised TSS	HepG2	liver
13	chr11:46741000-46742000	Enhancers	A549	lung
14	chr11:46741000-46742400	Weak transcription	Stomach Mucosa	stomach
15	chr11:46741400-46741600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:46741400-46744600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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