Variant report

Variant	rs9573597
Chromosome Location	chr13:76212795-76212796
allele	G/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	POLR2A	chr13:76212670-76213141	SK-N-SH	brain:	n/a	n/a
2	CHD1	chr13:76209769-76213065	IMR90	lung:	n/a	chr13:76211314-76211324 chr13:76210708-76210718
3	POLR2A	chr13:76209207-76212831	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000261105	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1006412	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17704212	0.87[EUR][1000 genomes]
rs1951831	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093751	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34444653	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7317170	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73225909	0.86[EUR][1000 genomes]
rs735821	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7988966	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9565179	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573596	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573601	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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
rs9573597	RP11-173B14.5	cis	lung	GTEx

Chromatin state (count:42 , 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	chr13:76209200-76213600	Active TSS	NHLF	lung
4	chr13:76209200-76214800	Active TSS	HSMMtube	muscle
5	chr13:76210000-76213400	Active TSS	NH-A	brain
6	chr13:76210000-76214000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:76211000-76214400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:76211200-76214400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:76211400-76212800	Weak transcription	Psoas Muscle	Psoas
10	chr13:76211400-76215600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
11	chr13:76211400-76226200	Weak transcription	Left Ventricle	heart
12	chr13:76211600-76215800	Weak transcription	Gastric	stomach
13	chr13:76211600-76215800	Transcr. at gene 5' and 3'	Osteobl	bone
14	chr13:76211600-76216200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr13:76211600-76232800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:76211600-76235600	Weak transcription	Ovary	ovary
17	chr13:76211600-76235600	Weak transcription	Pancreas	Pancrea
18	chr13:76211800-76214800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:76211800-76215200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:76211800-76215200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:76211800-76215600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr13:76211800-76217800	Weak transcription	NHEK	skin
23	chr13:76211800-76218800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:76211800-76230000	Weak transcription	Thymus	Thymus
25	chr13:76212000-76213000	Enhancers	Fetal Heart	heart
26	chr13:76212000-76213200	Active TSS	GM12878-XiMat	blood
27	chr13:76212000-76214000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:76212000-76223200	Weak transcription	Fetal Stomach	stomach
29	chr13:76212200-76212800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr13:76212200-76213800	Transcr. at gene 5' and 3'	HSMM	muscle
31	chr13:76212200-76216200	Weak transcription	HUVEC	blood vessel
32	chr13:76212200-76235600	Weak transcription	Aorta	Aorta
33	chr13:76212400-76212800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr13:76212400-76212800	Bivalent Enhancer	Fetal Kidney	kidney
35	chr13:76212400-76213000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:76212400-76213800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr13:76212400-76230000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:76212400-76240400	Weak transcription	HMEC	breast
39	chr13:76212600-76213000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:76212600-76215400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr13:76212600-76217800	Weak transcription	Dnd41	blood
42	chr13:76212600-76222800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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