Variant report

Variant	rs34512564
Chromosome Location	chr13:76214062-76214063
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	STAT3	chr13:76214034-76214203	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr13:76213579-76214079	GM12878	blood:	n/a	n/a
3	POLR2A	chr13:76213922-76214153	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76210811..76212641-chr13:76212952..76214964,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261105	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10507833	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11617360	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12427985	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12430746	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12869054	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1323693	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1575478	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1924176	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1983818	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281763	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2281764	0.85[ASN][1000 genomes]
rs33991813	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34222504	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34939695	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35915164	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61958092	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61958094	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9565180	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9573606	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9573608	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9593111	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9593112	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9593115	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9600515	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9600518	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9600521	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34512564	RP11-173B14.5	cis	Artery Tibial	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76208600-76215000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:76209000-76214400	Active TSS	NHDF-Ad	bronchial
3	chr13:76209200-76214800	Active TSS	HSMMtube	muscle
4	chr13:76211000-76214400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:76211200-76214400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:76211400-76215600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
7	chr13:76211400-76226200	Weak transcription	Left Ventricle	heart
8	chr13:76211600-76215800	Weak transcription	Gastric	stomach
9	chr13:76211600-76215800	Transcr. at gene 5' and 3'	Osteobl	bone
10	chr13:76211600-76216200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:76211600-76232800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr13:76211600-76235600	Weak transcription	Ovary	ovary
13	chr13:76211600-76235600	Weak transcription	Pancreas	Pancrea
14	chr13:76211800-76214800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:76211800-76215200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:76211800-76215200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:76211800-76215600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr13:76211800-76217800	Weak transcription	NHEK	skin
19	chr13:76211800-76218800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:76211800-76230000	Weak transcription	Thymus	Thymus
21	chr13:76212000-76223200	Weak transcription	Fetal Stomach	stomach
22	chr13:76212200-76216200	Weak transcription	HUVEC	blood vessel
23	chr13:76212200-76235600	Weak transcription	Aorta	Aorta
24	chr13:76212400-76230000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:76212400-76240400	Weak transcription	HMEC	breast
26	chr13:76212600-76215400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr13:76212600-76217800	Weak transcription	Dnd41	blood
28	chr13:76212600-76222800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:76212800-76224600	Weak transcription	Fetal Kidney	kidney
30	chr13:76213000-76214200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr13:76213000-76221600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:76213400-76214200	Flanking Active TSS	NH-A	brain
33	chr13:76213400-76215600	Enhancers	GM12878-XiMat	blood
34	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
35	chr13:76213600-76214200	Flanking Active TSS	NHLF	lung
36	chr13:76213800-76214400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
37	chr13:76213800-76214400	Active TSS	HSMM	muscle
38	chr13:76213800-76214600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr13:76213800-76215200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr13:76213800-76235600	Weak transcription	Psoas Muscle	Psoas
41	chr13:76214000-76214200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:76214000-76215400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr13:76214000-76215400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links