Variant report

Variant	rs73561994
Chromosome Location	chr19:45074149-45074150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr19:45073932-45074425	A549	lung:	n/a	n/a
2	RAD21	chr19:45074027-45074591	HCT-116	colon:	n/a	n/a
3	TEAD4	chr19:45074017-45074493	K562	blood:	n/a	n/a
4	RAD21	chr19:45074125-45074794	HepG2	liver:	n/a	n/a
5	RAD21	chr19:45073998-45074635	A549	lung:	n/a	n/a
6	RAD21	chr19:45074035-45074576	MCF-7	breast:	n/a	n/a
7	CTCF	chr19:45074060-45074582	HCT-116	colon:	n/a	n/a
8	RAD21	chr19:45074054-45074543	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr19:45074111-45074505	K562	blood:	n/a	n/a
10	RAD21	chr19:45074139-45074509	A549	lung:	n/a	n/a
11	CTCF	chr19:45074140-45074290	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr19:45073959-45074610	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr19:45074106-45074493	GM12878	blood:	n/a	n/a
14	CTCF	chr19:45074149-45074386	SK-N-SH_RA	brain:	n/a	n/a
15	RAD21	chr19:45074041-45074598	MCF-7	breast:	n/a	n/a
16	CTCF	chr19:45074127-45074488	K562	blood:	n/a	n/a
17	CTCF	chr19:45074143-45074407	ProgFib	skin:	n/a	n/a
18	RAD21	chr19:45074008-45074629	ECC-1	luminal epithelium:	n/a	n/a
19	RAD21	chr19:45073977-45074629	HCT-116	colon:	n/a	n/a
20	RAD21	chr19:45074075-45075025	HepG2	liver:	n/a	n/a
21	CTCF	chr19:45074027-45074574	HCT-116	colon:	n/a	n/a
22	SMC3	chr19:45074135-45074466	K562	blood:	n/a	n/a
23	CTCF	chr19:45074000-45074150	HMEC	breast:	n/a	n/a
24	CTCF	chr19:45074083-45074534	HepG2	liver:	n/a	n/a
25	RAD21	chr19:45074047-45074600	ECC-1	luminal epithelium:	n/a	n/a
26	RAD21	chr19:45074009-45074590	IMR90	lung:	n/a	n/a
27	UBTF	chr19:45074019-45074291	K562	blood:	n/a	n/a
28	TEAD4	chr19:45074117-45074502	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr19:45074146-45074477	GM12878	blood:	n/a	n/a
30	CTCF	chr19:45074121-45074495	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr19:45074020-45074170	A549	lung:	n/a	n/a
32	RAD21	chr19:45073892-45074622	SK-N-SH	brain:	n/a	n/a
33	RAD21	chr19:45074126-45074403	GM12878	blood:	n/a	n/a
34	RAD21	chr19:45074149-45074428	GM12878	blood:	n/a	n/a
35	CTCF	chr19:45074141-45074450	HUVEC	blood vessel:	n/a	n/a
36	SMC3	chr19:45074122-45074480	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr19:45074078-45074526	K562	blood:	n/a	n/a
38	CTCF	chr19:45074143-45074543	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr19:45074016-45074574	A549	lung:	n/a	n/a
40	EP300	chr19:45074137-45074338	HepG2	liver:	n/a	n/a
41	CTCF	chr19:45074105-45074494	IMR90	lung:	n/a	n/a
42	RAD21	chr19:45074128-45074488	K562	blood:	n/a	n/a
43	CTCF	chr19:45074141-45074439	T-47D	breast:	n/a	n/a
44	SMC3	chr19:45074114-45074754	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr19:45074129-45074450	HepG2	liver:	n/a	n/a
46	CTCF	chr19:45074110-45074494	A549	lung:	n/a	n/a
47	RAD21	chr19:45074112-45074579	H1-hESC	embryonic stem cell:	n/a	n/a
48	RCOR1	chr19:45073884-45074342	K562	blood:	n/a	n/a
49	CTCF	chr19:45073694-45075713	A549	lung:	n/a	chr19:45075149-45075162
50	RAD21	chr19:45074139-45074505	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45016284..45016826-chr19:45073849..45074372,2	MCF-7	breast:
2	chr19:45073833..45074821-chr19:45348052..45348614,3	K562	blood:
3	chr19:45074025..45075864-chr19:45246101..45248322,2	MCF-7	breast:
4	chr19:45074128..45076823-chr19:45084175..45086201,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224366	TF binding region

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16979256	1.00[AMR][1000 genomes]
rs73561992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8104706	0.83[AMR][1000 genomes]
rs8105133	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062812	chr19:45042262-45214796	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv960931	chr19:45073821-45102725	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45070000-45074400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr19:45070400-45080400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:45070600-45075200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr19:45073600-45074200	Enhancers	HepG2	liver
5	chr19:45073800-45076400	Enhancers	K562	blood

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