Variant report

Variant	rs11217433
Chromosome Location	chr11:119601957-119601958
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	MXI1	chr11:119597064-119601983	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119600585..119602314-chr11:119925639..119927228,2	MCF-7	breast:

Variant related genes	Relation type
PVRL1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10892444	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10892446	0.81[EUR][1000 genomes]
rs11217434	0.82[AMR][1000 genomes]
rs11217437	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11217438	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11217440	0.81[EUR][1000 genomes]
rs11217441	0.81[EUR][1000 genomes]
rs12421434	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12421466	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12793075	0.81[EUR][1000 genomes]
rs12796806	0.81[EUR][1000 genomes]
rs2136421	0.81[AFR][1000 genomes]
rs2368936	0.81[AFR][1000 genomes]
rs35248712	0.81[EUR][1000 genomes]
rs4245206	0.81[EUR][1000 genomes]
rs4938718	0.81[AFR][1000 genomes]
rs4938719	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4938720	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	nsv898421	chr11:119499014-119631325	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv898423	chr11:119541332-119659753	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1051769	chr11:119572865-119630769	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1037739	chr11:119592989-119630641	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119600800-119605800	Weak transcription	Brain Germinal Matrix	brain
2	chr11:119601200-119602400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:119601200-119612000	Weak transcription	Esophagus	oesophagus
4	chr11:119601200-119612200	Weak transcription	Right Atrium	heart
5	chr11:119601400-119602400	Enhancers	Brain Cingulate Gyrus	brain
6	chr11:119601400-119610200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:119601400-119612200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:119601400-119612200	Weak transcription	HMEC	breast
9	chr11:119601600-119602400	Enhancers	Brain Hippocampus Middle	brain
10	chr11:119601600-119602600	Enhancers	Pancreas	Pancrea
11	chr11:119601600-119605200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:119601600-119605400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:119601600-119610600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:119601600-119612000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:119601600-119612000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:119601600-119612200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:119601800-119603000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:119601800-119605400	Weak transcription	Fetal Intestine Small	intestine
19	chr11:119601800-119612000	Weak transcription	Spleen	Spleen
20	chr11:119601800-119612200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:119601800-119612200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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