Variant report

Variant	rs186334329
Chromosome Location	chr5:146719027-146719028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:146719000-146719150	HCFaa	heart:	n/a	n/a
2	CTCF	chr5:146718911-146719177	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr5:146719011-146719139	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr5:146719000-146719150	GM12867	blood:	n/a	n/a
5	CTCF	chr5:146718960-146719110	GM12873	blood:	n/a	n/a
6	CTCF	chr5:146718980-146719130	GM06990	blood:	n/a	n/a
7	CTCF	chr5:146718980-146719130	GM12866	blood:	n/a	n/a
8	CTCF	chr5:146719000-146719150	GM12873	blood:	n/a	n/a
9	CTCF	chr5:146719020-146719170	GM12874	blood:	n/a	n/a
10	CTCF	chr5:146719020-146719170	GM06990	blood:	n/a	n/a
11	CTCF	chr5:146719000-146719150	AG09319	gingival:	n/a	n/a
12	CTCF	chr5:146718956-146719200	GM12892	blood:	n/a	n/a
13	CTCF	chr5:146718962-146719147	HepG2	liver:	n/a	n/a
14	CTCF	chr5:146718980-146719130	GM12875	blood:	n/a	n/a
15	RAD21	chr5:146718803-146719252	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr5:146718937-146719216	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr5:146718960-146719110	GM12872	blood:	n/a	n/a
18	CTCF	chr5:146718994-146719158	HepG2	liver:	n/a	n/a
19	CTCF	chr5:146718920-146719070	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr5:146718960-146719110	HMF	breast:	n/a	n/a
21	CTCF	chr5:146718914-146719283	HCT-116	colon:	n/a	n/a
22	CTCF	chr5:146719020-146719170	GM12873	blood:	n/a	n/a
23	CTCF	chr5:146718900-146719050	HVMF	connective:	n/a	n/a
24	CTCF	chr5:146719020-146719170	HPF	lung:	n/a	n/a
25	CTCF	chr5:146718982-146719165	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr5:146718980-146719130	NB4	blood:	n/a	n/a
27	CTCF	chr5:146719006-146719131	GM19239	blood:	n/a	n/a
28	CTCF	chr5:146718920-146719070	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr5:146718940-146719090	GM12871	blood:	n/a	n/a
30	CTCF	chr5:146719000-146719150	HFF	foreskin:	n/a	n/a
31	CTCF	chr5:146718980-146719130	GM12870	blood:	n/a	n/a
32	CTCF	chr5:146719020-146719170	BJ	skin:	n/a	n/a
33	RAD21	chr5:146718922-146719264	A549	lung:	n/a	n/a
34	CTCF	chr5:146719020-146719170	MCF-7	breast:	n/a	n/a
35	RAD21	chr5:146718819-146719306	HCT-116	colon:	n/a	n/a
36	CTCF	chr5:146718977-146719146	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:146718980-146719130	RPTEC	kidney:	n/a	n/a
38	CTCF	chr5:146718970-146719144	GM12891	blood:	n/a	n/a
39	CTCF	chr5:146718960-146719110	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr5:146718940-146719090	GM12865	blood:	n/a	n/a
41	CTCF	chr5:146719007-146719083	K562	blood:	n/a	n/a
42	CTCF	chr5:146719020-146719170	HEK293	kidney:	n/a	n/a
43	CTCF	chr5:146718980-146719130	GM12869	blood:	n/a	n/a
44	RAD21	chr5:146718944-146719265	HCT-116	colon:	n/a	n/a
45	CTCF	chr5:146718972-146719151	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr5:146718956-146719204	Gliobla	brain:	n/a	n/a
47	CTCF	chr5:146718975-146719167	GM19240	blood:	n/a	n/a
48	CTCF	chr5:146718979-146719168	GM12878	blood:	n/a	n/a
49	CTCF	chr5:146719000-146719150	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr5:146718940-146719090	MCF-7	breast:	n/a	n/a

No data

Variant related genes	Relation type
STK32A	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv2763507	chr5:146718961-146727485	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146707600-146725600	Weak transcription	Pancreas	Pancrea
2	chr5:146713800-146720800	Weak transcription	Fetal Kidney	kidney
3	chr5:146717800-146721800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:146718600-146719200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:146718600-146719200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:146718800-146719200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:146719000-146719800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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