Variant report

Variant	rs72996743
Chromosome Location	chr11:108911186-108911187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:144)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:144 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr11:108911130-108911292	GM12878	blood:	n/a	n/a
2	CTCF	chr11:108911160-108911310	GM12872	blood:	n/a	n/a
3	CTCF	chr11:108911180-108911330	GM12873	blood:	n/a	n/a
4	CTCF	chr11:108911180-108911330	GM12878	blood:	n/a	n/a
5	TEAD4	chr11:108911055-108911370	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF143	chr11:108911084-108911383	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:108910987-108911437	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr11:108911159-108911311	NHEK	skin:	n/a	n/a
9	CTCF	chr11:108911100-108911250	GM12871	blood:	n/a	n/a
10	CTCF	chr11:108911120-108911270	GM12873	blood:	n/a	n/a
11	CTCF	chr11:108911120-108911270	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr11:108911180-108911330	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr11:108911155-108911285	Medullo	brain:	n/a	n/a
14	CTCF	chr11:108911157-108911275	Fibrobl	skin:	n/a	n/a
15	ZNF143	chr11:108911096-108911293	K562	blood:	n/a	n/a
16	CTCF	chr11:108911140-108911290	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr11:108911140-108911290	HCFaa	heart:	n/a	n/a
18	CTCF	chr11:108911120-108911270	NHEK	skin:	n/a	n/a
19	CTCF	chr11:108911048-108911331	K562	blood:	n/a	n/a
20	CTCF	chr11:108911136-108911341	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr11:108911160-108911310	GM12864	blood:	n/a	n/a
22	CTCF	chr11:108911150-108911275	ProgFib	skin:	n/a	n/a
23	CTCF	chr11:108911180-108911330	SK-N-SH_RA	brain:	n/a	n/a
24	RAD21	chr11:108911142-108911299	GM12878	blood:	n/a	chr11:108911233-108911246
25	MAZ	chr11:108911184-108911381	K562	blood:	n/a	n/a
26	CTCF	chr11:108911060-108911210	HVMF	connective:	n/a	n/a
27	RAD21	chr11:108911089-108911350	SK-N-SH_RA	brain:	n/a	chr11:108911233-108911246
28	CTCF	chr11:108911180-108911330	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr11:108911134-108911324	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:108911131-108911328	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:108911160-108911310	GM12874	blood:	n/a	n/a
32	CTCF	chr11:108911160-108911310	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr11:108911160-108911310	HCT-116	colon:	n/a	n/a
34	RAD21	chr11:108911093-108911410	HepG2	liver:	n/a	chr11:108911233-108911246
35	CTCF	chr11:108911160-108911310	HMF	breast:	n/a	n/a
36	JUND	chr11:108911100-108911382	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr11:108911090-108911467	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr11:108911120-108911270	SAEC	small airway:	n/a	n/a
39	CTCF	chr11:108911160-108911310	BE2_C	brain:	n/a	n/a
40	JUND	chr11:108911139-108911336	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr11:108911160-108911310	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr11:108911070-108911393	K562	blood:	n/a	n/a
43	CTCF	chr11:108911139-108911320	GM12891	blood:	n/a	n/a
44	FOXP2	chr11:108911158-108911285	PFSK-1	brain:	n/a	n/a
45	CTCF	chr11:108911106-108911361	K562	blood:	n/a	n/a
46	CTCF	chr11:108911140-108911290	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr11:108911140-108911290	HEK293	kidney:	n/a	n/a
48	CTCF	chr11:108911160-108911310	HL-60	blood:	n/a	n/a
49	JUND	chr11:108911132-108911375	HepG2	liver:	n/a	n/a
50	CTCF	chr11:108911157-108911268	LNCaP	prostate:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:108905168..108907464-chr11:108909151..108912288,3	K562	blood:
2	chr11:108899961..108902009-chr11:108909481..108912314,2	K562	blood:
3	chr11:108905323..108906917-chr11:108910788..108913428,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255528	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11600306	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58200195	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60268023	1.00[ASN][1000 genomes]
rs61344275	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994736	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994754	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72996736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73010563	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73010594	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv1040650	chr11:108859584-109174553	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv898390	chr11:108893765-109003536	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1815918	chr11:108900487-108948487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108907400-108917400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108907600-108917200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:108909600-108914600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:108911000-108914600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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