Variant report

Variant	rs72626506
Chromosome Location	chr20:40647820-40647821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:40647680-40647830	GM12868	blood:	n/a	n/a
2	CTCF	chr20:40647720-40647870	GM06990	blood:	n/a	n/a
3	CTCF	chr20:40647720-40647870	GM12872	blood:	n/a	n/a
4	RAD21	chr20:40647622-40647979	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr20:40647681-40647923	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr20:40647680-40647830	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr20:40647720-40647870	HepG2	liver:	n/a	n/a
8	CTCF	chr20:40647664-40647938	MCF-7	breast:	n/a	n/a
9	CTCF	chr20:40647508-40648082	MCF-7	breast:	n/a	n/a
10	CTCF	chr20:40647721-40647879	LNCaP	prostate:	n/a	n/a
11	RAD21	chr20:40647609-40647985	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr20:40647557-40647991	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr20:40647720-40647870	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr20:40647738-40647867	Gliobla	brain:	n/a	n/a
15	CTCF	chr20:40647720-40647870	HMEC	breast:	n/a	n/a
16	CTCF	chr20:40647760-40647910	GM12865	blood:	n/a	n/a
17	CTCF	chr20:40647699-40647920	LNCaP	prostate:	n/a	n/a
18	CTCF	chr20:40647740-40647890	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr20:40647700-40647850	GM12878	blood:	n/a	n/a
20	RAD21	chr20:40647497-40648097	MCF-7	breast:	n/a	n/a
21	CTCF	chr20:40647739-40647860	Fibrobl	skin:	n/a	n/a
22	CTCF	chr20:40647700-40647850	GM12865	blood:	n/a	n/a
23	MAZ	chr20:40647678-40647916	K562	blood:	n/a	n/a
24	RAD21	chr20:40647534-40648003	SK-N-SH	brain:	n/a	n/a
25	CTCF	chr20:40647522-40648074	MCF-7	breast:	n/a	n/a
26	CTCF	chr20:40647697-40647891	MCF-7	breast:	n/a	n/a
27	CTCF	chr20:40647720-40647866	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr20:40647680-40647830	NB4	blood:	n/a	n/a
29	CTCF	chr20:40647699-40647902	GM12892	blood:	n/a	n/a
30	ZNF143	chr20:40647687-40647936	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr20:40647682-40647879	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr20:40647800-40647950	GM12878	blood:	n/a	n/a
33	CTCF	chr20:40647702-40647899	GM19239	blood:	n/a	n/a
34	CTCF	chr20:40647651-40647871	HepG2	liver:	n/a	n/a
35	CTCF	chr20:40647700-40647850	HVMF	connective:	n/a	n/a
36	CTCF	chr20:40647593-40647968	K562	blood:	n/a	n/a
37	JUN	chr20:40647777-40647870	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr20:40647720-40647870	GM12873	blood:	n/a	n/a
39	SMC3	chr20:40647656-40647903	HepG2	liver:	n/a	n/a
40	CTCF	chr20:40647720-40647870	GM12869	blood:	n/a	n/a
41	CTCF	chr20:40647706-40647857	GM12891	blood:	n/a	n/a
42	RAD21	chr20:40647709-40647878	K562	blood:	n/a	n/a
43	CTCF	chr20:40647740-40647890	HepG2	liver:	n/a	n/a
44	CTCF	chr20:40647717-40647888	A549	lung:	n/a	n/a
45	JUND	chr20:40647677-40648006	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr20:40647724-40647879	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr20:40647700-40647850	GM12869	blood:	n/a	n/a
48	CREB1	chr20:40647631-40648088	HepG2	liver:	n/a	n/a
49	CTCF	chr20:40647712-40647894	GM19240	blood:	n/a	n/a
50	CTCF	chr20:40647720-40647870	HUVEC	blood vessel:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:40647561..40648111-chr3:943417..944121,2	MCF-7	breast:
2	chr20:40585063..40585585-chr20:40647501..40648295,2	MCF-7	breast:
3	chr20:40362868..40363717-chr20:40647339..40648278,3	MCF-7	breast:
4	chr20:40584661..40585630-chr20:40647278..40648249,12	MCF-7	breast:
5	chr20:40517658..40518318-chr20:40647636..40648238,2	MCF-7	breast:
6	chr20:40366989..40367893-chr20:40647466..40648275,6	MCF-7	breast:
7	chr20:40585759..40586528-chr20:40647402..40648048,2	MCF-7	breast:
8	chr20:40641988..40644961-chr20:40646504..40648867,2	K562	blood:
9	chr20:40375062..40375607-chr20:40647290..40648219,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228959	TF binding region
ENSG00000228959	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72626509	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv912873	chr20:40601021-40675704	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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