Variant report

Variant	rs56875550
Chromosome Location	chr11:107475985-107475986
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	RAD21	chr11:107475765-107476090	HepG2	liver:	n/a	n/a
2	RAD21	chr11:107475941-107476024	HepG2	liver:	n/a	n/a
3	CEBPB	chr11:107475829-107476152	K562	blood:	n/a	chr11:107475981-107475992
4	CEBPB	chr11:107475899-107476029	HepG2	liver:	n/a	chr11:107475981-107475992
5	RAD21	chr11:107475941-107476038	Hela-S3	cervix:	n/a	n/a
6	RAD21	chr11:107475860-107476025	HepG2	liver:	n/a	n/a
7	CTCF	chr11:107475948-107476039	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:107475840-107475990	Caco-2	colon:	n/a	n/a
9	CTCF	chr11:107475860-107476010	AG10803	skin:	n/a	n/a
10	CTCF	chr11:107475840-107475990	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr11:107475920-107476070	HMEC	breast:	n/a	n/a
12	CTCF	chr11:107475856-107476074	HepG2	liver:	n/a	n/a
13	RAD21	chr11:107475745-107476121	HCT-116	colon:	n/a	n/a
14	CTCF	chr11:107475949-107476087	ProgFib	skin:	n/a	n/a
15	CTCF	chr11:107475980-107476130	NHDF-neo	bronchial:	n/a	n/a
16	CEBPB	chr11:107475839-107476051	K562	blood:	n/a	chr11:107475981-107475992
17	CEBPB	chr11:107475812-107476144	H1-hESC	embryonic stem cell:	n/a	chr11:107475822-107475833 chr11:107475981-107475992
18	CTCF	chr11:107475840-107475990	HCT-116	colon:	n/a	n/a
19	CTCF	chr11:107475880-107476030	GM12869	blood:	n/a	n/a
20	CTCF	chr11:107475860-107476010	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr11:107475780-107476046	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr11:107475880-107476030	AG09319	gingival:	n/a	n/a
23	CTCF	chr11:107475820-107476099	K562	blood:	n/a	n/a
24	RAD21	chr11:107475848-107476070	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr11:107475957-107476032	GM19238	blood:	n/a	n/a
26	CTCF	chr11:107475952-107476036	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:107475885-107476021	LNCaP	prostate:	n/a	n/a
28	CEBPB	chr11:107475891-107476093	MCF-7	breast:	n/a	chr11:107475981-107475992
29	RAD21	chr11:107475820-107476134	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr11:107475880-107476030	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr11:107475949-107476042	NHEK	skin:	n/a	n/a
32	CTCF	chr11:107475898-107476056	K562	blood:	n/a	n/a
33	CTCF	chr11:107475934-107476042	HepG2	liver:	n/a	n/a
34	CEBPB	chr11:107475936-107476030	HepG2	liver:	n/a	chr11:107475981-107475992
35	CTCF	chr11:107475932-107476051	Fibrobl	skin:	n/a	n/a
36	ZNF384	chr11:107475784-107476138	K562	blood:	n/a	n/a
37	CTCF	chr11:107475880-107476030	HEK293	kidney:	n/a	n/a
38	CTCF	chr11:107475900-107476050	HepG2	liver:	n/a	n/a
39	RAD21	chr11:107475884-107476034	K562	blood:	n/a	n/a
40	CTCF	chr11:107475880-107476030	HEEpiC	esophagus:	n/a	n/a
41	RAD21	chr11:107475791-107476076	SK-N-SH_RA	brain:	n/a	n/a
42	RAD21	chr11:107475863-107476072	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr11:107475880-107476030	K562	blood:	n/a	n/a
44	RAD21	chr11:107475921-107476005	K562	blood:	n/a	n/a
45	CTCF	chr11:107475840-107475990	RPTEC	kidney:	n/a	n/a
46	CTCF	chr11:107475880-107476030	HRPEpiC	eye:	n/a	n/a
47	CEBPB	chr11:107475817-107476087	A549	lung:	n/a	chr11:107475822-107475833 chr11:107475981-107475992
48	CTCF	chr11:107475973-107476020	GM19240	blood:	n/a	n/a
49	CTCF	chr11:107475946-107476034	A549	lung:	n/a	n/a
50	CTCF	chr11:107475880-107476030	HMF	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000255483	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12419100	0.84[ASN][1000 genomes]
rs17107171	0.83[ASN][1000 genomes]
rs17107173	0.84[ASN][1000 genomes]
rs17107185	0.85[ASN][1000 genomes]
rs1939897	0.89[AFR][1000 genomes]
rs4753808	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4754233	0.96[ASN][1000 genomes]
rs481084	0.81[ASN][1000 genomes]
rs510699	0.84[ASN][1000 genomes]
rs538138	0.81[ASN][1000 genomes]
rs57430153	0.85[ASN][1000 genomes]
rs58407219	0.85[ASN][1000 genomes]
rs60891405	0.96[ASN][1000 genomes]
rs7112409	1.00[ASN][1000 genomes]
rs73555568	0.85[ASN][1000 genomes]
rs7925258	0.89[AFR][1000 genomes]
rs956717	0.84[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	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv468866	chr11:107472733-107566585	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv556377	chr11:107472733-107566585	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107463200-107482600	Weak transcription	HSMMtube	muscle
2	chr11:107469400-107476400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:107469800-107479000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:107470000-107476400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:107470000-107479000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:107473800-107476200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:107473800-107476200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:107475200-107476600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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