Variant report

Variant	rs7120110
Chromosome Location	chr11:119870202-119870203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:119869997-119870307	GM12878	blood:	n/a	n/a
2	CTCF	chr11:119870060-119870210	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr11:119870112-119870209	MCF-7	breast:	n/a	n/a
4	CTCF	chr11:119870046-119870228	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr11:119870080-119870230	NHDF-neo	bronchial:	n/a	n/a
6	CTCF	chr11:119870060-119870210	GM12871	blood:	n/a	n/a
7	CTCF	chr11:119870080-119870230	GM12873	blood:	n/a	n/a
8	CTCF	chr11:119870080-119870230	SAEC	small airway:	n/a	n/a
9	ELF1	chr11:119869894-119870342	HCT-116	colon:	n/a	chr11:119870182-119870195
10	RAD21	chr11:119870069-119870332	ECC-1	luminal epithelium:	n/a	n/a
11	CTCF	chr11:119870060-119870210	HCM	heart:	n/a	n/a
12	CTCF	chr11:119870060-119870210	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr11:119869996-119870290	K562	blood:	n/a	n/a
14	CTCF	chr11:119870080-119870230	GM12875	blood:	n/a	n/a
15	CTCF	chr11:119870120-119870270	GM12867	blood:	n/a	n/a
16	CTCF	chr11:119870100-119870250	HMEC	breast:	n/a	n/a
17	SMC3	chr11:119870012-119870326	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr11:119870103-119870222	GM19240	blood:	n/a	n/a
19	CTCF	chr11:119870083-119870220	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:119870120-119870270	HCT-116	colon:	n/a	n/a
21	RAD21	chr11:119870032-119870275	GM12878	blood:	n/a	n/a
22	CTCF	chr11:119870080-119870230	AG09319	gingival:	n/a	n/a
23	RAD21	chr11:119869977-119870339	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr11:119870069-119870251	GM19238	blood:	n/a	n/a
25	CTCF	chr11:119870060-119870210	GM12874	blood:	n/a	n/a
26	RAD21	chr11:119870005-119870248	K562	blood:	n/a	n/a
27	ZNF143	chr11:119870108-119870267	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr11:119870037-119870279	NHEK	skin:	n/a	n/a
29	E2F6	chr11:119869842-119870213	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr11:119870063-119870262	GM12878	blood:	n/a	n/a
31	MAX	chr11:119869893-119870240	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr11:119870100-119870250	GM12867	blood:	n/a	n/a
33	CTCF	chr11:119870080-119870230	NB4	blood:	n/a	n/a
34	CTCF	chr11:119870054-119870245	K562	blood:	n/a	n/a
35	CTCF	chr11:119870100-119870250	AG09309	skin:	n/a	n/a
36	CTCF	chr11:119870088-119870216	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:119870080-119870230	GM12868	blood:	n/a	n/a
38	CTCF	chr11:119869995-119870282	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr11:119870060-119870210	NHEK	skin:	n/a	n/a
40	CTCF	chr11:119870080-119870230	GM12866	blood:	n/a	n/a
41	CTCF	chr11:119870080-119870230	GM06990	blood:	n/a	n/a
42	CTCF	chr11:119870080-119870230	GM12878	blood:	n/a	n/a
43	USF1	chr11:119870039-119870253	K562	blood:	n/a	n/a
44	RAD21	chr11:119869988-119870329	HepG2	liver:	n/a	n/a
45	CTCF	chr11:119870100-119870250	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr11:119870080-119870230	RPTEC	kidney:	n/a	n/a
47	CTCF	chr11:119870100-119870250	GM12878	blood:	n/a	n/a
48	CTCF	chr11:119870100-119870250	GM12865	blood:	n/a	n/a
49	CTCF	chr11:119870060-119870210	HMEC	breast:	n/a	n/a
50	CTCF	chr11:119870080-119870230	AG04449	skin:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000254863	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11217619	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217620	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217621	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217622	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822515	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11825934	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11825954	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828327	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377460	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377464	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377571	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58030968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7106560	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110709	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7119315	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119397	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119762	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119865	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7119877	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125377	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7125556	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73586071	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7924586	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932064	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7937531	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7941864	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945097	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945351	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945376	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7950202	0.99[AFR][1000 genomes];1.00[AMR][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1037777	chr11:119842515-119898368	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541179	chr11:119842515-119898368	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035918	chr11:119853069-119879255	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119862000-119871400	Weak transcription	Brain Germinal Matrix	brain
2	chr11:119864800-119871600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:119866400-119880200	Weak transcription	Esophagus	oesophagus
4	chr11:119866600-119871600	Weak transcription	Brain Angular Gyrus	brain
5	chr11:119867000-119871200	Weak transcription	Brain Substantia Nigra	brain
6	chr11:119867600-119870600	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:119867600-119871400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:119867600-119871400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:119869400-119871000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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