Variant report

Variant	rs9963719
Chromosome Location	chr18:43365140-43365141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr18:43365068-43365706	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43341892..43343658-chr18:43364920..43367574,2	MCF-7	breast:
2	chr18:43364506..43367357-chr18:43382801..43384329,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267558	TF binding region

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11082478	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11082482	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11082489	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12455458	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12606508	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16978495	0.80[EUR][1000 genomes]
rs16978496	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16978500	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3921068	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8083935	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8093452	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9953686	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9955442	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43356000-43382000	Weak transcription	Aorta	Aorta
2	chr18:43361000-43366800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:43361200-43365800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr18:43362400-43365600	Enhancers	NHDF-Ad	bronchial
5	chr18:43362600-43365800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr18:43362800-43365600	Enhancers	Osteobl	bone
7	chr18:43362800-43365800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr18:43363400-43365200	Enhancers	Primary T cells from cord blood	blood
9	chr18:43364000-43366600	Weak transcription	Placenta	Placenta
10	chr18:43364000-43373200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr18:43364200-43365200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr18:43364200-43365400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:43364200-43372400	Weak transcription	NH-A	brain
14	chr18:43364800-43365600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:43364800-43365600	Enhancers	HSMMtube	muscle
16	chr18:43364800-43365800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:43364800-43365800	Enhancers	HMEC	breast
18	chr18:43364800-43365800	Enhancers	NHEK	skin
19	chr18:43364800-43365800	Enhancers	NHLF	lung
20	chr18:43365000-43365400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr18:43365000-43365400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr18:43365000-43365400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:43365000-43365400	Enhancers	Dnd41	blood
24	chr18:43365000-43365400	Enhancers	GM12878-XiMat	blood
25	chr18:43365000-43365400	Enhancers	HSMM	muscle
26	chr18:43365000-43365600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr18:43365000-43365600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:43365000-43365600	Enhancers	Small Intestine	intestine
29	chr18:43365000-43365800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:43365000-43366200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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