Variant report

Variant	rs12285067
Chromosome Location	chr11:73356745-73356746
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr11:73356696-73357773	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:73356593-73357696	H1-hESC	embryonic stem cell:	n/a	n/a
3	SPI1	chr11:73356351-73356795	HL-60	blood:	n/a	n/a
4	JUND	chr11:73356737-73357643	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr11:73356588-73357771	H1-hESC	embryonic stem cell:	n/a	chr11:73356842-73356855 chr11:73357274-73357287

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73356744-73356794	HRE	kidney:	n/a
2	chr11:73356744-73356794	HCM	heart:	n/a
3	chr11:73356744-73356794	HCPEpiC	choroid plexus:	n/a
4	chr11:73356744-73356794	HAEpiC	amniotic membrane:	n/a
5	chr11:73356744-73356794	T-47D	breast:	n/a
6	chr11:73356744-73356794	ProgFib	skin:	n/a
7	chr11:73356744-73356794	GM12878	blood:	n/a
8	chr11:73356744-73356794	BE2_C	brain:	n/a
9	chr11:73356744-73356794	PANC-1	pancreas:	n/a
10	chr11:73356744-73356794	SK-N-MC	brain:	n/a
11	chr11:73356744-73356794	Hela-S3	cervix:	n/a
12	chr11:73356744-73356794	NHDF-neo	bronchial:	n/a
13	chr11:73356744-73356794	HEK293	kidney:	embryo
14	chr11:73356744-73356794	HCF	heart:	n/a
15	chr11:73356744-73356794	ECC-1	luminal epithelium:	n/a
16	chr11:73356744-73356794	Caco-2	colon:	n/a
17	chr11:73356744-73356794	HMEC	breast:	n/a
18	chr11:73356744-73356794	NT2-D1	testis:	n/a
19	chr11:73356744-73356794	NH-A	brain:	n/a
20	chr11:73356744-73356794	HRCEpiC	kidney:	n/a
21	chr11:73356744-73356794	GM06990	blood:	n/a
22	chr11:73356744-73356794	RPTEC	kidney:	n/a
23	chr11:73356744-73356794	AG09309	skin:	n/a
24	chr11:73356744-73356794	GM12892	blood:	n/a
25	chr11:73356744-73356794	SKMC	muscle:	n/a
26	chr11:73356744-73356794	HEEpiC	esophagus:	n/a
27	chr11:73356744-73356794	BJ	skin:	n/a
28	chr11:73356744-73356794	H1-hESC	embryonic stem cell:	embryo
29	chr11:73356744-73356794	U87	brain:	n/a
30	chr11:73356744-73356794	HNPCEpiC	eye:	n/a
31	chr11:73356744-73356794	NHBE	bronchial:	n/a
32	chr11:73356744-73356794	ovcar-3	ovarian:	n/a
33	chr11:73356744-73356794	AoSMC	blood vessel:	n/a
34	chr11:73356744-73356794	LNCaP	prostate:	n/a
35	chr11:73356744-73356794	AG04449	skin:	fetal
36	chr11:73356744-73356794	GM12891	blood:	n/a
37	chr11:73356744-73356794	PrEC	prostate:	n/a
38	chr11:73356744-73356794	HPAEpiC	pulmonary alveolar:	n/a
39	chr11:73356744-73356794	MCF10A-Er-Src	breast:	n/a
40	chr11:73356744-73356794	AG10803	skin:	n/a
41	chr11:73356744-73356794	AG09319	gingival:	n/a
42	chr11:73356744-73356794	HCT-116	colon:	n/a
43	chr11:73356744-73356794	Jurkat	blood:	n/a
44	chr11:73356744-73356794	HUVEC	blood vessel:	n/a
45	chr11:73356744-73356794	PFSK-1	brain:	n/a
46	chr11:73356744-73356794	GM19239	blood:	n/a
47	chr11:73356744-73356794	A549	lung:	n/a
48	chr11:73356744-73356794	HIPEpiC	eye:	n/a
49	chr11:73356744-73356794	IMR90	lung:	fetal
50	chr11:73356744-73356794	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73307696..73311155-chr11:73356118..73358808,4	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHB1	TF binding region
PLEKHB1	CpG island
ENSG00000054965	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11235832	1.00[AFR][1000 genomes]
rs12277650	0.93[AFR][1000 genomes]
rs73554360	1.00[AFR][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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73350000-73358600	Weak transcription	Right Atrium	heart
2	chr11:73352000-73357400	Weak transcription	Primary T cells from cord blood	blood
3	chr11:73352000-73358000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:73352800-73357600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:73353000-73357800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:73353000-73358200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:73356000-73357400	Bivalent Enhancer	Fetal Intestine Small	intestine
8	chr11:73356200-73356800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr11:73356200-73356800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
10	chr11:73356200-73356800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:73356200-73356800	Enhancers	Primary hematopoietic stem cells	blood
12	chr11:73356200-73356800	Enhancers	Spleen	Spleen
13	chr11:73356200-73356800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr11:73356200-73357000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:73356200-73357000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:73356200-73357200	Bivalent Enhancer	Fetal Stomach	stomach
17	chr11:73356200-73357400	Enhancers	HepG2	liver
18	chr11:73356200-73357600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr11:73356200-73358000	Bivalent Enhancer	Fetal Thymus	thymus
20	chr11:73356200-73358600	Enhancers	Placenta	Placenta
21	chr11:73356200-73358800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:73356200-73360800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:73356400-73356800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:73356400-73356800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:73356400-73357000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr11:73356400-73357000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr11:73356400-73357000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:73356400-73357000	Bivalent/Poised TSS	NHEK	skin
29	chr11:73356400-73357200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:73356400-73357200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr11:73356400-73357200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr11:73356400-73357400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:73356400-73357800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:73356400-73357800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:73356400-73357800	Bivalent Enhancer	Fetal Intestine Large	intestine
36	chr11:73356600-73356800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:73356600-73356800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:73356600-73356800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:73356600-73356800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr11:73356600-73356800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:73356600-73356800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:73356600-73356800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:73356600-73357000	Enhancers	Fetal Kidney	kidney
44	chr11:73356600-73357200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr11:73356600-73357200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:73356600-73357200	Bivalent Enhancer	Adipose Nuclei	Adipose
47	chr11:73356600-73357200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr11:73356600-73357200	Enhancers	Fetal Heart	heart
49	chr11:73356600-73357200	Bivalent Enhancer	Fetal Lung	lung
50	chr11:73356600-73357200	Bivalent Enhancer	HUVEC	blood vessel

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