Variant report

Variant	rs451551
Chromosome Location	chr16:12057167-12057168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr16:12056877-12057207	GM12878	blood:	n/a	n/a
2	MEF2A	chr16:12056756-12057242	GM12878	blood:	n/a	n/a
3	PAX5	chr16:12056807-12057260	GM12878	blood:	n/a	n/a
4	MEF2C	chr16:12056762-12057301	GM12878	blood:	n/a	n/a
5	TCF3	chr16:12056955-12057221	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:12057110-12063123	GM12891	blood:	n/a	n/a
7	NFIC	chr16:12056755-12057502	GM12878	blood:	n/a	n/a
8	PAX5	chr16:12056882-12057240	GM12878	blood:	n/a	n/a
9	EBF1	chr16:12056919-12057200	GM12878	blood:	n/a	n/a
10	TCF12	chr16:12056927-12057202	GM12878	blood:	n/a	n/a
11	PAX5	chr16:12056952-12057199	GM12878	blood:	n/a	n/a
12	BCL3	chr16:12056913-12057234	GM12878	blood:	n/a	n/a
13	FOXM1	chr16:12056760-12057495	GM12878	blood:	n/a	n/a
14	EP300	chr16:12056944-12057473	GM12878	blood:	n/a	n/a
15	TCF3	chr16:12056927-12057285	GM12878	blood:	n/a	n/a
16	IKZF1	chr16:12056615-12057284	GM12878	blood:	n/a	n/a
17	PAX5	chr16:12056921-12057232	GM12891	blood:	n/a	n/a
18	BHLHE40	chr16:12056775-12057190	GM12878	blood:	n/a	n/a
19	RUNX3	chr16:12056710-12057235	GM12878	blood:	n/a	n/a
20	PAX5	chr16:12056760-12057349	GM12878	blood:	n/a	n/a
21	NFIC	chr16:12056812-12057330	GM12878	blood:	n/a	n/a
22	TCF12	chr16:12056873-12057253	GM12878	blood:	n/a	n/a
23	RUNX3	chr16:12056846-12057228	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12008413..12010461-chr16:12056035..12059014,2	MCF-7	breast:
2	chr16:12044743..12047515-chr16:12054722..12057306,2	K562	blood:

No data

Variant related genes	Relation type
TNFRSF17	TF binding region
ENSG00000103342	Chromatin interaction
ENSG00000266163	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs397181	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs397870	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs412565	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs416883	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs450700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs637136	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv571459	chr16:12046899-12062396	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv962195	chr16:12053526-12071576	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12040400-12065400	Weak transcription	Fetal Intestine Small	intestine
2	chr16:12042200-12064400	Weak transcription	Fetal Stomach	stomach
3	chr16:12048600-12064800	Weak transcription	Thymus	Thymus
4	chr16:12050400-12058200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr16:12052200-12067600	Weak transcription	Osteobl	bone
6	chr16:12052200-12069600	Weak transcription	Primary T cells from cord blood	blood
7	chr16:12052400-12058600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:12052400-12066800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:12053000-12058600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:12053000-12065800	Weak transcription	Placenta	Placenta
11	chr16:12053200-12058600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:12053400-12057400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:12053400-12057400	Weak transcription	NHEK	skin
14	chr16:12053400-12058600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:12053400-12058800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:12053800-12057600	Weak transcription	Fetal Thymus	thymus
17	chr16:12054600-12069400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr16:12055000-12059000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr16:12055800-12058600	Enhancers	Primary B cells from cord blood	blood
20	chr16:12056200-12058600	Enhancers	Primary B cells from peripheral blood	blood
21	chr16:12056600-12058200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:12056800-12069400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr16:12057000-12057200	Enhancers	GM12878-XiMat	blood
24	chr16:12057000-12060000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr16:12057000-12067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:12057000-12067600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links