Variant report

Variant	rs10891543
Chromosome Location	chr11:113255895-113255896
allele	A/G
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	FOS	chr11:113255182-113255927	HUVEC	blood vessel:	n/a	n/a
2	E2F4	chr11:113255253-113255934	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:113254251..113256495-chr11:113260373..113262197,2	K562	blood:

Variant related genes	Relation type
ANKK1	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1055075	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10891541	0.81[ASN][1000 genomes]
rs10891542	0.81[ASN][1000 genomes]
rs10891545	0.80[ASN][1000 genomes]
rs10891546	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17115439	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2155464	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2282511	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298489	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2298490	0.88[ASN][1000 genomes]
rs28712705	0.81[ASN][1000 genomes]
rs3897584	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4601821	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938012	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4938013	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4938015	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6589375	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7115082	0.88[ASN][1000 genomes]
rs7123797	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7130431	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7945132	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs877138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10891543	TTC12	cis	Heart Left Ventricle	GTEx
rs10891543	TTC12	cis	lung	GTEx
rs10891543	TTC12	cis	Muscle Skeletal	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113232200-113257400	Weak transcription	Small Intestine	intestine
2	chr11:113240200-113258400	Weak transcription	Spleen	Spleen
3	chr11:113241800-113257800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:113244400-113256400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:113244800-113257400	Weak transcription	Lung	lung
6	chr11:113249000-113257400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:113249200-113257600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:113249200-113258200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:113254200-113256400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:113254400-113257600	Enhancers	HUVEC	blood vessel
11	chr11:113254400-113258000	Enhancers	NHEK	skin
12	chr11:113254600-113256200	Enhancers	HSMM	muscle
13	chr11:113255200-113256000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:113255200-113256200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:113255200-113257000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:113255400-113256000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:113255400-113256000	Enhancers	Placenta	Placenta
18	chr11:113255400-113256000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr11:113255400-113256000	Enhancers	NHLF	lung
20	chr11:113255400-113256000	Enhancers	Osteobl	bone
21	chr11:113255400-113256400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr11:113255400-113256400	Enhancers	NH-A	brain
23	chr11:113255400-113256600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:113255400-113258200	Enhancers	HMEC	breast
25	chr11:113255400-113258400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:113255600-113256600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:113255600-113256600	Weak transcription	Aorta	Aorta
28	chr11:113255600-113257200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:113255600-113257600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:113255600-113258200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:113255800-113256400	Enhancers	HSMMtube	muscle
32	chr11:113255800-113257800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:113255800-113258000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:113255800-113258200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links