Variant report

Variant	rs11891546
Chromosome Location	chr2:234232722-234232723
allele	G/T
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:1)
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	RAD21	chr2:234232413-234232986	HCT-116	colon:	n/a	n/a
2	RAD21	chr2:234232541-234232776	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr2:234232580-234232730	GM06990	blood:	n/a	n/a
4	MAZ	chr2:234232518-234232829	K562	blood:	n/a	n/a
5	CTCF	chr2:234232576-234232801	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:234232573-234232773	K562	blood:	n/a	n/a
7	CTCF	chr2:234232525-234232766	HepG2	liver:	n/a	n/a
8	CTCF	chr2:234232580-234232730	K562	blood:	n/a	n/a
9	CTCF	chr2:234232444-234232883	HepG2	liver:	n/a	n/a
10	CTCF	chr2:234232475-234232829	HCT-116	colon:	n/a	n/a
11	CTCF	chr2:234232581-234232773	MCF-7	breast:	n/a	n/a
12	RAD21	chr2:234232396-234232889	HepG2	liver:	n/a	n/a
13	CTCF	chr2:234232515-234232745	GM12878	blood:	n/a	n/a
14	RAD21	chr2:234232551-234232741	K562	blood:	n/a	n/a
15	RAD21	chr2:234232504-234232863	HepG2	liver:	n/a	n/a
16	CTCF	chr2:234232494-234232739	A549	lung:	n/a	n/a
17	CTCF	chr2:234232574-234232738	K562	blood:	n/a	n/a
18	CTCF	chr2:234232600-234232750	GM06990	blood:	n/a	n/a
19	CTCF	chr2:234232488-234232803	MCF-7	breast:	n/a	n/a
20	CTCF	chr2:234232641-234232741	A549	lung:	n/a	n/a
21	RAD21	chr2:234232491-234232899	HCT-116	colon:	n/a	n/a
22	CTCF	chr2:234232600-234232764	NHEK	skin:	n/a	n/a
23	CTCF	chr2:234232611-234232770	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr2:234232534-234232734	K562	blood:	n/a	n/a
25	SMC3	chr2:234232608-234232767	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr2:234232581-234232778	Hela-S3	cervix:	n/a	n/a
27	RAD21	chr2:234232460-234232850	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr2:234232600-234232750	MCF-7	breast:	n/a	n/a
29	CTCF	chr2:234232600-234232750	HepG2	liver:	n/a	n/a
30	CTCF	chr2:234232600-234232750	SAEC	small airway:	n/a	n/a
31	CTCF	chr2:234232620-234232770	HMEC	breast:	n/a	n/a
32	CTCF	chr2:234232620-234232770	HEK293	kidney:	n/a	n/a
33	RAD21	chr2:234232579-234232785	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr2:234232620-234232770	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr2:234232585-234232775	GM12891	blood:	n/a	n/a
36	RAD21	chr2:234232573-234232742	K562	blood:	n/a	n/a
37	CTCF	chr2:234232606-234232727	GM19238	blood:	n/a	n/a
38	RAD21	chr2:234232472-234232870	HepG2	liver:	n/a	n/a
39	CTCF	chr2:234232580-234232730	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr2:234232565-234232786	HepG2	liver:	n/a	n/a
41	CTCF	chr2:234232582-234232791	MCF-7	breast:	n/a	n/a
42	RAD21	chr2:234232476-234232898	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:234232592-234232768	GM19240	blood:	n/a	n/a
44	CTCF	chr2:234232620-234232770	GM12865	blood:	n/a	n/a
45	CTCF	chr2:234232497-234232857	K562	blood:	n/a	n/a
46	CTCF	chr2:234232620-234232770	A549	lung:	n/a	n/a
47	SMC3	chr2:234232528-234232781	HepG2	liver:	n/a	n/a
48	CTCF	chr2:234232568-234232791	MCF-7	breast:	n/a	n/a
49	RAD21	chr2:234232521-234232836	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr2:234232564-234232784	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234232608..234233132-chr2:234262796..234263472,2	MCF-7	breast:

No data

Variant related genes	Relation type
SAG	TF binding region
ENSG00000243637	Chromatin interaction
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12997325	0.80[EUR][1000 genomes]
rs13002340	0.80[EUR][1000 genomes]
rs2241875	0.83[CHB][hapmap]
rs2304774	0.80[EUR][1000 genomes]
rs2304777	0.83[CHB][hapmap]
rs3792096	0.87[CHB][hapmap]
rs3792097	0.87[CHB][hapmap]
rs55991949	0.80[EUR][1000 genomes]
rs6710735	0.87[CHB][hapmap]
rs6759896	0.81[EUR][1000 genomes]
rs745498	0.87[CHB][hapmap]
rs894100	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234223600-234245400	Weak transcription	Pancreas	Pancrea
2	chr2:234228400-234240000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:234229800-234235000	Enhancers	Primary B cells from cord blood	blood
4	chr2:234229800-234235600	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:234230200-234232800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:234232600-234233400	Enhancers	Lung	lung

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