Variant report

Variant	rs73400811
Chromosome Location	chr22:32752044-32752045
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	chr22:32751803-32752277	SK-N-SH	brain:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
2	RAD21	chr22:32751818-32752127	SK-N-SH_RA	brain:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
3	CTCF	chr22:32751920-32752070	RPTEC	kidney:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
4	CTCF	chr22:32751838-32752049	NHEK	skin:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
5	CTCF	chr22:32751849-32752062	LNCaP	prostate:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
6	CTCF	chr22:32751783-32752241	HCT-116	colon:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
7	CTCF	chr22:32751841-32752051	LNCaP	prostate:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
8	ELF1	chr22:32751757-32752217	MCF-7	breast:	n/a	n/a
9	CTCF	chr22:32751852-32752049	MCF-7	breast:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
10	CTCF	chr22:32751804-32752046	HepG2	liver:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
11	RAD21	chr22:32751783-32752087	HepG2	liver:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
12	RAD21	chr22:32751777-32752091	Hela-S3	cervix:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
13	CTCF	chr22:32751920-32752070	WERI-Rb-1	eye:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
14	SMC3	chr22:32751789-32752125	HepG2	liver:	n/a	chr22:32751941-32751955
15	CTCF	chr22:32751826-32752130	HepG2	liver:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
16	RAD21	chr22:32751786-32752162	MCF-7	breast:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
17	RAD21	chr22:32751694-32752145	H1-hESC	embryonic stem cell:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
18	CTCF	chr22:32751812-32752084	K562	blood:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
19	SMC3	chr22:32751792-32752093	Hela-S3	cervix:	n/a	chr22:32751941-32751955
20	CTCF	chr22:32751782-32752179	MCF-7	breast:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
21	CTCF	chr22:32751742-32752113	MCF-7	breast:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
22	RAD21	chr22:32751789-32752059	HepG2	liver:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
23	CTCF	chr22:32751920-32752170	GM12873	blood:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
24	JUND	chr22:32751970-32752077	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr22:32751629-32752121	HCT-116	colon:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
26	RAD21	chr22:32751835-32752046	ECC-1	luminal epithelium:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
27	POLR2A	chr22:32751818-32752050	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr22:32751882-32752082	A549	lung:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
29	CTCF	chr22:32751834-32752063	MCF-7	breast:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
30	RAD21	chr22:32751790-32752190	HCT-116	colon:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
31	RAD21	chr22:32751621-32752270	SK-N-SH	brain:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
32	CTCF	chr22:32751809-32752083	H1-hESC	embryonic stem cell:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
33	CTCF	chr22:32751809-32752057	T-47D	breast:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
34	RAD21	chr22:32751740-32752154	HepG2	liver:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
35	RAD21	chr22:32751778-32752133	H1-hESC	embryonic stem cell:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
36	CTCF	chr22:32751920-32752070	HMEC	breast:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954
37	ZNF384	chr22:32751854-32752116	K562	blood:	n/a	n/a
38	RAD21	chr22:32751798-32752096	H1-hESC	embryonic stem cell:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
39	RAD21	chr22:32751786-32752053	A549	lung:	n/a	chr22:32751937-32751956 chr22:32751941-32751955 chr22:32751946-32751955
40	CTCF	chr22:32751920-32752070	HAc	cerebellar:	n/a	chr22:32752009-32752017 chr22:32751934-32751955 chr22:32751939-32751957 chr22:32751946-32751954 chr22:32751941-32751954

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32529813-32538538..22:32750950-32761732	K562	blood:
2	22:32360288-32405313..22:32750950-32761732	K562	blood:
3	22:32665993-32670527..22:32750950-32761732	K562	blood:
4	chr22:32661924..32662587-chr22:32751548..32752470,3	MCF-7	breast:
5	22:31936958-31958600..22:32750950-32761732	Hela-S3	cervix:
6	chr22:32499801..32500326-chr22:32751667..32752317,2	MCF-7	breast:
7	22:32513817-32522138..22:32750950-32761732	H1-hESC	embryonic stem cell:	embryo
8	22:32750950-32761732..22:33253287-33262063	Hela-S3	cervix:
9	chr22:32598171..32598996-chr22:32751498..32752149,2	MCF-7	breast:
10	22:32284948-32287956..22:32750950-32761732	K562	blood:

Variant related genes	Relation type
RFPL3	TF binding region
ENSG00000183531	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000224050	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000240647	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11913228	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11913841	1.00[ASN][1000 genomes]
rs16990250	0.88[AFR][1000 genomes]
rs16990376	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142721	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28418991	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28630758	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41282595	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41304681	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41307235	0.92[ASN][1000 genomes]
rs55744002	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55878163	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55938437	1.00[ASN][1000 genomes]
rs56101849	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56150811	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56317784	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57570397	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57649686	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57787050	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58316160	0.92[ASN][1000 genomes]
rs58371480	0.94[AFR][1000 genomes]
rs59177527	0.84[AFR][1000 genomes]
rs60064927	0.96[AFR][1000 genomes]
rs73166332	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73166337	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73166340	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73166348	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73166368	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166369	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166401	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168706	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168710	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170318	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73170319	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73400817	0.92[AFR][1000 genomes]
rs73400835	0.84[AFR][1000 genomes]
rs73400838	0.84[AFR][1000 genomes]
rs742097	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609518	1.00[ASN][1000 genomes]
rs9619260	0.83[ASN][1000 genomes]
rs9621427	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9680823	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
2	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
3	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
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32750800-32755600	Weak transcription	Ovary	ovary
2	chr22:32751000-32754200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:32751200-32752200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:32751200-32752400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr22:32751400-32752400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr22:32751600-32752400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr22:32751800-32752400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr22:32751800-32752600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:32752000-32752200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:32752000-32752400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr22:32752000-32752400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr22:32752000-32752400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:32752000-32752400	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links