Variant report

Variant	rs2511023
Chromosome Location	chr11:120009145-120009146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr11:120008530-120009147	MCF-7	breast:	n/a	n/a
2	STAT3	chr11:120008984-120009184	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr11:120008717-120009156	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr11:120008968-120009186	MCF10A-Er-Src	breast:	n/a	chr11:120009118-120009127
5	TCF12	chr11:120008686-120009274	ECC-1	luminal epithelium:	n/a	n/a
6	FOS	chr11:120008991-120009145	MCF10A-Er-Src	breast:	n/a	chr11:120009118-120009127
7	STAT3	chr11:120009031-120009209	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr11:120008659-120009216	MCF10A-Er-Src	breast:	n/a	n/a
9	GTF2F1	chr11:120008481-120009221	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:120008572-120009228	MCF10A-Er-Src	breast:	n/a	n/a
11	SMARCB1	chr11:120007876-120009165	Hela-S3	cervix:	n/a	n/a
12	NR2F2	chr11:120008589-120009158	MCF-7	breast:	n/a	n/a
13	RCOR1	chr11:120008558-120009218	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:120009135-120009185	RPTEC	kidney:	n/a
2	chr11:120009124-120009174	NHDF-neo	bronchial:	n/a
3	chr11:120009124-120009174	HCPEpiC	choroid plexus:	n/a
4	chr11:120009124-120009174	AG04449	skin:	fetal
5	chr11:120009124-120009174	GM06990	blood:	n/a
6	chr11:120009135-120009185	HMEC	breast:	n/a
7	chr11:120009135-120009185	HRE	kidney:	n/a
8	chr11:120009124-120009174	AoSMC	blood vessel:	n/a
9	chr11:120009124-120009174	HCF	heart:	n/a
10	chr11:120009135-120009185	BJ	skin:	n/a
11	chr11:120009124-120009174	GM12878	blood:	n/a
12	chr11:120009124-120009174	NB4	blood:	n/a
13	chr11:120009135-120009185	GM12878	blood:	n/a
14	chr11:120009135-120009185	HRCEpiC	kidney:	n/a
15	chr11:120009135-120009185	ovcar-3	ovarian:	n/a
16	chr11:120009135-120009185	NH-A	brain:	n/a
17	chr11:120009124-120009174	HRE	kidney:	n/a
18	chr11:120009124-120009174	Caco-2	colon:	n/a
19	chr11:120009124-120009174	HepG2	liver:	n/a
20	chr11:120009124-120009174	HUVEC	blood vessel:	n/a
21	chr11:120009124-120009174	T-47D	breast:	n/a
22	chr11:120009124-120009174	AG09319	gingival:	n/a
23	chr11:120009135-120009185	PrEC	prostate:	n/a
24	chr11:120009124-120009174	Jurkat	blood:	n/a
25	chr11:120009124-120009174	Hepatocyte	liver:	n/a
26	chr11:120009135-120009185	AG09309	skin:	n/a
27	chr11:120009135-120009185	HL-60	blood:	n/a
28	chr11:120009124-120009174	IMR90	lung:	fetal
29	chr11:120009135-120009185	AG04449	skin:	fetal
30	chr11:120009135-120009185	HepG2	liver:	n/a
31	chr11:120009124-120009174	AG09309	skin:	n/a
32	chr11:120009124-120009174	PFSK-1	brain:	n/a
33	chr11:120009135-120009185	HCF	heart:	n/a
34	chr11:120009124-120009174	PrEC	prostate:	n/a
35	chr11:120009135-120009185	AG10803	skin:	n/a
36	chr11:120009135-120009185	BE2_C	brain:	n/a
37	chr11:120009135-120009185	A549	lung:	n/a
38	chr11:120009135-120009185	HEK293	kidney:	embryo
39	chr11:120009124-120009174	GM12891	blood:	n/a
40	chr11:120009124-120009174	NHBE	bronchial:	n/a
41	chr11:120009124-120009174	U87	brain:	n/a
42	chr11:120009124-120009174	HRPEpiC	eye:	n/a
43	chr11:120009135-120009185	HEEpiC	esophagus:	n/a
44	chr11:120009135-120009185	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:120009135-120009185	HAEpiC	amniotic membrane:	n/a
46	chr11:120009135-120009185	H1-hESC	embryonic stem cell:	embryo
47	chr11:120009124-120009174	MCF10A-Er-Src	breast:	n/a
48	chr11:120009124-120009174	LNCaP	prostate:	n/a
49	chr11:120009124-120009174	BE2_C	brain:	n/a
50	chr11:120009124-120009174	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119990134..119993227-chr11:120007102..120010731,5	MCF-7	breast:
2	chr11:120008416..120009260-chr17:42143798..42144484,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
TRIM29	TF binding region
TRIM29	CpG island
ENSG00000161654	Chromatin interaction
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2084897	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2084898	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2084899	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2508491	0.86[ASN][1000 genomes]
rs2508492	0.86[ASN][1000 genomes]
rs471776	0.91[ASN][1000 genomes]
rs477337	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs477361	0.84[EUR][1000 genomes]
rs488615	0.83[ASN][1000 genomes]
rs490819	0.91[ASN][1000 genomes]
rs504236	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs504976	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs518863	0.89[ASN][1000 genomes]
rs546441	0.91[ASN][1000 genomes]
rs547897	0.86[ASN][1000 genomes]
rs548215	0.96[ASN][1000 genomes]
rs551843	0.91[ASN][1000 genomes]
rs55920307	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs561218	0.86[ASN][1000 genomes]
rs562015	0.84[ASN][1000 genomes]
rs56391092	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs571854	0.86[ASN][1000 genomes]
rs574563	0.86[ASN][1000 genomes]
rs579368	0.91[ASN][1000 genomes]
rs60336713	0.82[AMR][1000 genomes]
rs7114201	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7116650	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7119954	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

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	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	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120006600-120009200	Active TSS	NHEK	skin
2	chr11:120007200-120021400	Weak transcription	Right Atrium	heart
3	chr11:120007800-120010200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:120008200-120009200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:120008400-120009200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:120008400-120009200	Enhancers	Stomach Mucosa	stomach
7	chr11:120008400-120009400	Bivalent Enhancer	Fetal Intestine Large	intestine
8	chr11:120008400-120009400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr11:120008600-120009200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:120008600-120009400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:120008800-120009600	Weak transcription	Esophagus	oesophagus
12	chr11:120008800-120010200	Enhancers	Placenta	Placenta
13	chr11:120008800-120010600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:120009000-120009200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
15	chr11:120009000-120009400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:120009000-120009400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:120009000-120009400	Flanking Active TSS	Hela-S3	cervix
18	chr11:120009000-120009400	Flanking Active TSS	HMEC	breast
19	chr11:120009000-120009600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:120009000-120009600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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