Variant report

Variant	rs73436564
Chromosome Location	chr15:75280337-75280338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:75280290-75280966	A549	lung:	n/a	chr15:75280567-75280580 chr15:75280565-75280583
2	CTCF	chr15:75280320-75280927	HCT-116	colon:	n/a	chr15:75280567-75280580 chr15:75280565-75280583
3	REST	chr15:75280336-75280654	SK-N-SH	brain:	n/a	chr15:75280522-75280531
4	RAD21	chr15:75280288-75280819	HepG2	liver:	n/a	chr15:75280567-75280577 chr15:75280569-75280578 chr15:75280403-75280415 chr15:75280566-75280579
5	REST	chr15:75279964-75280869	A549	lung:	n/a	chr15:75280522-75280531
6	REST	chr15:75280260-75280826	ECC-1	luminal epithelium:	n/a	chr15:75280522-75280531
7	CTCF	chr15:75280233-75280709	K562	blood:	n/a	chr15:75280567-75280580 chr15:75280565-75280583
8	REST	chr15:75280309-75280722	HepG2	liver:	n/a	chr15:75280522-75280531
9	RAD21	chr15:75280328-75280851	ECC-1	luminal epithelium:	n/a	chr15:75280567-75280577 chr15:75280569-75280578 chr15:75280403-75280415 chr15:75280566-75280579
10	REST	chr15:75280278-75280659	U87	brain:	n/a	chr15:75280522-75280531
11	REST	chr15:75280321-75280857	HCT-116	colon:	n/a	chr15:75280522-75280531
12	REST	chr15:75280251-75280773	MCF-7	breast:	n/a	chr15:75280522-75280531
13	REST	chr15:75280165-75280794	PFSK-1	brain:	n/a	chr15:75280522-75280531
14	REST	chr15:75280317-75280698	HCT-116	colon:	n/a	chr15:75280522-75280531
15	REST	chr15:75280169-75280739	HepG2	liver:	n/a	chr15:75280522-75280531
16	CTCF	chr15:75280279-75280813	A549	lung:	n/a	chr15:75280567-75280580 chr15:75280565-75280583
17	MAZ	chr15:75280324-75280729	K562	blood:	n/a	n/a
18	MAZ	chr15:75280297-75280849	IMR90	lung:	n/a	n/a
19	REST	chr15:75280334-75280630	GM12878	blood:	n/a	chr15:75280522-75280531
20	RAD21	chr15:75280330-75280896	MCF-7	breast:	n/a	chr15:75280567-75280577 chr15:75280569-75280578 chr15:75280403-75280415 chr15:75280566-75280579
21	RAD21	chr15:75280303-75280889	A549	lung:	n/a	chr15:75280567-75280577 chr15:75280569-75280578 chr15:75280403-75280415 chr15:75280566-75280579
22	REST	chr15:75280263-75280965	PANC-1	pancreas:	n/a	chr15:75280522-75280531
23	POLR2A	chr15:75280320-75280736	PANC-1	pancreas:	n/a	n/a
24	SIN3A	chr15:75280336-75280715	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr15:75280158-75280893	HL-60	blood:	n/a	chr15:75280522-75280531
26	JUN	chr15:75280298-75280815	K562	blood:	n/a	n/a
27	REST	chr15:75280291-75280777	Hela-S3	cervix:	n/a	chr15:75280522-75280531
28	CTCF	chr15:75280276-75280860	MCF-7	breast:	n/a	chr15:75280567-75280580 chr15:75280565-75280583
29	REST	chr15:75280302-75280671	H1-hESC	embryonic stem cell:	n/a	chr15:75280522-75280531
30	REST	chr15:75280017-75280696	K562	blood:	n/a	chr15:75280522-75280531
31	REST	chr15:75280302-75280666	K562	blood:	n/a	chr15:75280522-75280531
32	REST	chr15:75280271-75280659	U87	brain:	n/a	chr15:75280522-75280531
33	SIN3AK20	chr15:75280249-75280939	MCF-7	breast:	n/a	n/a
34	REST	chr15:75280303-75280844	MCF-7	breast:	n/a	chr15:75280522-75280531
35	REST	chr15:75280293-75280672	PANC-1	pancreas:	n/a	chr15:75280522-75280531
36	REST	chr15:75280157-75280828	PFSK-1	brain:	n/a	chr15:75280522-75280531
37	RAD21	chr15:75280311-75280855	HCT-116	colon:	n/a	chr15:75280567-75280577 chr15:75280569-75280578 chr15:75280403-75280415 chr15:75280566-75280579
38	REST	chr15:75280272-75280667	SK-N-SH	brain:	n/a	chr15:75280522-75280531
39	REST	chr15:75280292-75280662	Hela-S3	cervix:	n/a	chr15:75280522-75280531
40	RAD21	chr15:75280305-75280734	ECC-1	luminal epithelium:	n/a	chr15:75280567-75280577 chr15:75280569-75280578 chr15:75280403-75280415 chr15:75280566-75280579
41	REST	chr15:75280308-75280825	PANC-1	pancreas:	n/a	chr15:75280522-75280531
42	RAD21	chr15:75280158-75281052	SK-N-SH	brain:	n/a	chr15:75280567-75280577 chr15:75280569-75280578 chr15:75280403-75280415 chr15:75280566-75280579
43	REST	chr15:75280251-75280683	PANC-1	pancreas:	n/a	chr15:75280522-75280531
44	CTCF	chr15:75280304-75281200	SK-N-SH	brain:	n/a	chr15:75280567-75280580 chr15:75280565-75280583
45	YY1	chr15:75280309-75280855	H1-hESC	embryonic stem cell:	n/a	n/a
46	REST	chr15:75280245-75280733	A549	lung:	n/a	chr15:75280522-75280531
47	RAD21	chr15:75280228-75280807	H1-hESC	embryonic stem cell:	n/a	chr15:75280567-75280577 chr15:75280569-75280578 chr15:75280403-75280415 chr15:75280566-75280579
48	REST	chr15:75280221-75280760	GM12878	blood:	n/a	chr15:75280522-75280531
49	CTCF	chr15:75280304-75280707	H1-hESC	embryonic stem cell:	n/a	chr15:75280567-75280580 chr15:75280565-75280583
50	RAD21	chr15:75280288-75280835	MCF-7	breast:	n/a	chr15:75280567-75280577 chr15:75280569-75280578 chr15:75280403-75280415 chr15:75280566-75280579

No.	Distal block	Cell Line	Cell type
1	chr15:75063135..75063986-chr15:75280277..75280997,2	MCF-7	breast:
2	chr15:75193631..75194372-chr15:75279911..75280528,2	MCF-7	breast:
3	chr15:75242403..75243361-chr15:75280099..75281035,2	MCF-7	breast:
4	chr15:75063133..75064034-chr15:75280031..75281063,7	MCF-7	breast:
5	chr15:75248236..75249066-chr15:75280065..75280985,3	MCF-7	breast:
6	chr15:75279778..75281928-chr15:75287388..75289491,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199580	TF binding region
ENSG00000198794	Chromatin interaction
ENSG00000178718	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57565416	1.00[AMR][1000 genomes]
rs57985760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58235768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74023907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74023911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74023919	1.00[AMR][1000 genomes]
rs74023929	1.00[AMR][1000 genomes]
rs74023937	1.00[AMR][1000 genomes]
rs74023957	1.00[AMR][1000 genomes]
rs74023962	1.00[AMR][1000 genomes]
rs74025864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv1612	chr15:75247725-75281284	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv542435	chr15:75271788-75321117	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75279000-75280800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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