Variant report

Variant	rs144729834
Chromosome Location	chr5:52497647-52497648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr5:52497542-52498016	HCT-116	colon:	n/a	n/a
2	IRF1	chr5:52497626-52497945	K562	blood:	n/a	n/a
3	CTCF	chr5:52497622-52497863	HepG2	liver:	n/a	n/a
4	CTCF	chr5:52497572-52497910	K562	blood:	n/a	n/a
5	RAD21	chr5:52497578-52497867	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr5:52497640-52497790	HA-sp	spinal cord:	n/a	n/a
7	CTCF	chr5:52497640-52497790	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr5:52497511-52497903	A549	lung:	n/a	n/a
9	IRF1	chr5:52497629-52497952	K562	blood:	n/a	n/a
10	CTCF	chr5:52497640-52497790	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr5:52497640-52497790	BJ	skin:	n/a	n/a
12	RCOR1	chr5:52497501-52497936	K562	blood:	n/a	n/a
13	CTCF	chr5:52497565-52498052	K562	blood:	n/a	n/a
14	RAD21	chr5:52497597-52497948	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr5:52497614-52497872	A549	lung:	n/a	n/a
16	CTCF	chr5:52497640-52497790	GM12865	blood:	n/a	n/a
17	YY1	chr5:52497589-52497866	H1-hESC	embryonic stem cell:	n/a	chr5:52497717-52497729
18	CTCF	chr5:52497620-52497770	GM12871	blood:	n/a	n/a
19	RAD21	chr5:52497589-52497865	K562	blood:	n/a	n/a
20	MAZ	chr5:52497577-52497944	K562	blood:	n/a	n/a
21	CTCF	chr5:52497489-52497901	HCT-116	colon:	n/a	n/a
22	RAD21	chr5:52497625-52497917	K562	blood:	n/a	n/a
23	CTCF	chr5:52497563-52497914	H1-hESC	embryonic stem cell:	n/a	n/a
24	YY1	chr5:52497537-52497833	H1-hESC	embryonic stem cell:	n/a	chr5:52497717-52497729
25	CTCF	chr5:52497640-52497790	MCF-7	breast:	n/a	n/a
26	RAD21	chr5:52497592-52497891	HepG2	liver:	n/a	n/a
27	CTCF	chr5:52497620-52497770	AG04450	lung:	n/a	n/a
28	RAD21	chr5:52497578-52497916	HepG2	liver:	n/a	n/a
29	CTCF	chr5:52497640-52497790	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr5:52497618-52497943	HepG2	liver:	n/a	n/a
31	CTCF	chr5:52497640-52497790	HCFaa	heart:	n/a	n/a
32	CTCF	chr5:52497640-52497790	GM12869	blood:	n/a	n/a
33	CTCF	chr5:52497640-52497790	GM12801	blood:	n/a	n/a
34	CTCF	chr5:52497580-52497730	WI-38	lung:	n/a	n/a
35	RAD21	chr5:52497566-52497909	ECC-1	luminal epithelium:	n/a	n/a
36	CTCF	chr5:52497640-52497790	GM12878	blood:	n/a	n/a
37	CTCF	chr5:52497600-52497750	GM12875	blood:	n/a	n/a
38	ZNF143	chr5:52497605-52497945	K562	blood:	n/a	n/a
39	CTCF	chr5:52497588-52497953	K562	blood:	n/a	n/a
40	CTCF	chr5:52497567-52497964	K562	blood:	n/a	n/a
41	YY1	chr5:52497602-52497801	K562	blood:	n/a	chr5:52497717-52497729
42	CTCF	chr5:52497640-52497790	GM12872	blood:	n/a	n/a
43	CTCF	chr5:52497600-52497750	AG04450	lung:	n/a	n/a
44	CTCF	chr5:52497620-52497770	HCM	heart:	n/a	n/a
45	CTCF	chr5:52497541-52497859	H1-hESC	embryonic stem cell:	n/a	n/a
46	SPI1	chr5:52497531-52497744	K562	blood:	n/a	n/a
47	CTCF	chr5:52497640-52497790	HPF	lung:	n/a	n/a
48	RAD21	chr5:52497570-52497833	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr5:52497617-52497909	K562	blood:	n/a	n/a
50	RAD21	chr5:52497604-52497870	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52419531..52420160-chr5:52497344..52497892,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213940	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv515913	chr5:52492677-52545841	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv522454	chr5:52492677-52571758	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv968913	chr5:52495296-52509384	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv598173	chr5:52495682-52499899	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv20413	chr5:52497292-52500173	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52489000-52507000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:52489600-52507800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links