Variant report

Variant	rs7287793
Chromosome Location	chr22:32476962-32476963
allele	C/T
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	SMC3	chr22:32476903-32477284	GM12878	blood:	n/a	chr22:32477082-32477096
2	CTCF	chr22:32476876-32477448	HCT-116	colon:	n/a	chr22:32477080-32477098
3	RAD21	chr22:32476907-32477271	GM12878	blood:	n/a	chr22:32477078-32477097
4	CTCF	chr22:32476956-32477227	Pancreas_OC	pancreas:	n/a	chr22:32477080-32477098
5	RAD21	chr22:32476917-32477223	SK-N-SH_RA	brain:	n/a	chr22:32477078-32477097
6	CTCF	chr22:32476872-32477326	K562	blood:	n/a	chr22:32477080-32477098
7	CTCF	chr22:32476910-32477550	A549	lung:	n/a	chr22:32477080-32477098
8	RAD21	chr22:32476878-32477422	MCF-7	breast:	n/a	chr22:32477078-32477097
9	RAD21	chr22:32476902-32477219	HepG2	liver:	n/a	chr22:32477078-32477097
10	RAD21	chr22:32476833-32477363	H1-hESC	embryonic stem cell:	n/a	chr22:32477078-32477097
11	RAD21	chr22:32476884-32477297	H1-hESC	embryonic stem cell:	n/a	chr22:32477078-32477097
12	RAD21	chr22:32476924-32477323	ECC-1	luminal epithelium:	n/a	chr22:32477078-32477097
13	CTCF	chr22:32476902-32477182	ECC-1	luminal epithelium:	n/a	chr22:32477080-32477098
14	RAD21	chr22:32476920-32477468	HCT-116	colon:	n/a	chr22:32477078-32477097
15	CTCF	chr22:32476890-32477227	T-47D	breast:	n/a	chr22:32477080-32477098
16	CTCF	chr22:32476895-32477212	A549	lung:	n/a	chr22:32477080-32477098
17	SMC3	chr22:32476893-32477285	Hela-S3	cervix:	n/a	chr22:32477082-32477096
18	RAD21	chr22:32476879-32477281	IMR90	lung:	n/a	chr22:32477078-32477097
19	CTCF	chr22:32476958-32477223	SK-N-SH_RA	brain:	n/a	chr22:32477080-32477098
20	MAX	chr22:32476947-32477126	GM12878	blood:	n/a	n/a
21	CTCF	chr22:32476960-32477110	HFF-Myc	foreskin:	n/a	chr22:32477080-32477098
22	RAD21	chr22:32476884-32477215	H1-hESC	embryonic stem cell:	n/a	chr22:32477078-32477097
23	RAD21	chr22:32476901-32477364	ECC-1	luminal epithelium:	n/a	chr22:32477078-32477097
24	RAD21	chr22:32476928-32477250	A549	lung:	n/a	chr22:32477078-32477097
25	CTCF	chr22:32476944-32477352	MCF-7	breast:	n/a	chr22:32477080-32477098
26	ATF2	chr22:32476875-32477279	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr22:32476881-32477489	SK-N-SH	brain:	n/a	chr22:32477080-32477098
28	RAD21	chr22:32476891-32477277	Hela-S3	cervix:	n/a	chr22:32477078-32477097
29	RAD21	chr22:32476839-32477267	HepG2	liver:	n/a	chr22:32477078-32477097
30	RAD21	chr22:32476917-32477367	HCT-116	colon:	n/a	chr22:32477078-32477097
31	CTCF	chr22:32476868-32477190	ECC-1	luminal epithelium:	n/a	chr22:32477080-32477098
32	CTCF	chr22:32476877-32477272	H1-hESC	embryonic stem cell:	n/a	chr22:32477080-32477098
33	RAD21	chr22:32476899-32477320	SK-N-SH_RA	brain:	n/a	chr22:32477078-32477097
34	RAD21	chr22:32476952-32477194	GM12878	blood:	n/a	chr22:32477078-32477097
35	RAD21	chr22:32476884-32477532	SK-N-SH	brain:	n/a	chr22:32477078-32477097
36	CTCF	chr22:32476934-32477183	T-47D	breast:	n/a	chr22:32477080-32477098
37	CTCF	chr22:32476942-32477165	K562	blood:	n/a	chr22:32477080-32477098
38	CTCF	chr22:32476962-32477230	Spleen_OC	spleen:	n/a	chr22:32477080-32477098
39	SMC3	chr22:32476926-32477292	K562	blood:	n/a	chr22:32477082-32477096
40	CTCF	chr22:32476960-32477110	HVMF	connective:	n/a	chr22:32477080-32477098
41	CTCF	chr22:32476848-32477347	A549	lung:	n/a	chr22:32477080-32477098
42	CTCF	chr22:32476915-32477306	K562	blood:	n/a	chr22:32477080-32477098
43	CTCF	chr22:32476962-32477252	GM12878	blood:	n/a	chr22:32477080-32477098
44	RAD21	chr22:32476945-32477273	A549	lung:	n/a	chr22:32477078-32477097
45	RAD21	chr22:32476947-32477391	A549	lung:	n/a	chr22:32477078-32477097
46	RAD21	chr22:32476909-32477260	K562	blood:	n/a	chr22:32477078-32477097
47	SMC3	chr22:32476923-32477351	SK-N-SH	brain:	n/a	chr22:32477082-32477096
48	SMC3	chr22:32476902-32477290	HepG2	liver:	n/a	chr22:32477082-32477096
49	ZNF143	chr22:32476959-32477247	GM12878	blood:	n/a	n/a
50	RAD21	chr22:32476892-32477255	MCF-7	breast:	n/a	chr22:32477078-32477097

No.	Distal block	Cell Line	Cell type
1	chr22:32372870..32373842-chr22:32476568..32477785,13	MCF-7	breast:
2	chr22:32372869..32373942-chr22:32475953..32477559,5	K562	blood:
3	22:32162110-32166713..22:32475239-32477762	Hela-S3	cervix:
4	22:32475239-32477762..22:32860159-32865649	GM12878	blood:
5	22:32338420-32342898..22:32475239-32477762	Hela-S3	cervix:
6	22:32475239-32477762..22:32764253-32784733	Hela-S3	cervix:
7	chr22:32372925..32373819-chr22:32476594..32477554,6	MCF-7	breast:
8	22:32170492-32188129..22:32475239-32477762	Hela-S3	cervix:
9	22:32264718-32278135..22:32475239-32477762	Hela-S3	cervix:
10	22:32053085-32061138..22:32475239-32477762	GM12878	blood:
11	chr22:32366563..32367219-chr22:32476693..32477358,2	MCF-7	breast:
12	22:32475239-32477762..22:33452523-33459358	GM12878	blood:
13	22:31836635-31847259..22:32475239-32477762	Hela-S3	cervix:
14	22:32102727-32109893..22:32475239-32477762	Hela-S3	cervix:
15	22:32475239-32477762..22:32920308-32927723	Hela-S3	cervix:
16	22:32475239-32477762..22:32750950-32761732	Hela-S3	cervix:

Variant related genes	Relation type
SLC5A1	TF binding region
ENSG00000230866	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12627781	1.00[AMR][1000 genomes]
rs16989679	1.00[AMR][1000 genomes]
rs56864958	1.00[EUR][1000 genomes]
rs58334257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58504390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59243243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59662844	1.00[EUR][1000 genomes]
rs59688361	1.00[EUR][1000 genomes]
rs61088020	1.00[EUR][1000 genomes]
rs7291269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391043	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73391045	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73391054	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73391057	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73391072	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73391075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391078	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73391079	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73406096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73406102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73407905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73407909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73407924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1060529	chr22:32370432-32525699	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv834177	chr22:32416679-32594663	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	esv1803811	chr22:32441022-32509431	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32469400-32489800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:32469600-32478200	Genic enhancers	Fetal Intestine Small	intestine
3	chr22:32472600-32479200	Weak transcription	Right Ventricle	heart
4	chr22:32473400-32495000	Weak transcription	Colonic Mucosa	Colon
5	chr22:32473600-32495600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:32475400-32478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr22:32476200-32477200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:32476200-32478200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr22:32476200-32495800	Weak transcription	Stomach Mucosa	stomach
10	chr22:32476400-32477400	Weak transcription	Left Ventricle	heart
11	chr22:32476400-32481600	Weak transcription	Fetal Heart	heart
12	chr22:32476600-32477600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:32476600-32479800	Weak transcription	Liver	Liver
14	chr22:32476600-32480400	Weak transcription	Fetal Intestine Large	intestine
15	chr22:32476600-32499400	Weak transcription	Pancreas	Pancrea

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