Variant report

Variant	rs9573596
Chromosome Location	chr13:76211996-76211997
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	MXI1	chr13:76209606-76212673	IMR90	lung:	n/a	chr13:76211344-76211353
2	TCF7L2	chr13:76211718-76212210	HepG2	liver:	n/a	n/a
3	MAZ	chr13:76209603-76212074	IMR90	lung:	n/a	chr13:76209876-76209885 chr13:76211758-76211765 chr13:76209875-76209886 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211756-76211766 chr13:76211308-76211318
4	CHD1	chr13:76209769-76213065	IMR90	lung:	n/a	chr13:76211314-76211324 chr13:76210708-76210718
5	MAX	chr13:76211341-76212084	SK-N-SH	brain:	n/a	chr13:76211758-76211765 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211756-76211766
6	POLR2A	chr13:76209207-76212831	ProgFib	skin:	n/a	n/a
7	POLR2A	chr13:76210206-76212261	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr13:76211350-76212313	SK-N-SH	brain:	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: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1006412	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17704212	0.87[EUR][1000 genomes]
rs1951831	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093751	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34444653	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7317170	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73225909	0.86[EUR][1000 genomes]
rs735821	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7988966	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9565179	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573597	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573601	0.94[AFR][1000 genomes];0.99[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
rs9573596	RP11-173B14.5	cis	lung	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

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	chr13:76209000-76212000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr13:76209000-76212200	Active TSS	HSMM	muscle
4	chr13:76209000-76214400	Active TSS	NHDF-Ad	bronchial
5	chr13:76209200-76212000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:76209200-76212200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr13:76209200-76212200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr13:76209200-76213600	Active TSS	NHLF	lung
9	chr13:76209200-76214800	Active TSS	HSMMtube	muscle
10	chr13:76209400-76212000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:76209400-76212200	Active TSS	Aorta	Aorta
12	chr13:76209600-76212400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr13:76210000-76213400	Active TSS	NH-A	brain
14	chr13:76210000-76214000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:76210200-76212200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:76210600-76212000	Flanking Active TSS	HUVEC	blood vessel
17	chr13:76211000-76212200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:76211000-76214400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:76211200-76212200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr13:76211200-76212600	Enhancers	Dnd41	blood
21	chr13:76211200-76214400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:76211400-76212000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:76211400-76212000	Flanking Active TSS	GM12878-XiMat	blood
24	chr13:76211400-76212200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr13:76211400-76212200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:76211400-76212400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:76211400-76212400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:76211400-76212600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr13:76211400-76212800	Weak transcription	Psoas Muscle	Psoas
30	chr13:76211400-76215600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
31	chr13:76211400-76226200	Weak transcription	Left Ventricle	heart
32	chr13:76211600-76212000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:76211600-76212000	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr13:76211600-76212000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr13:76211600-76212000	Flanking Active TSS	Fetal Heart	heart
36	chr13:76211600-76212000	Flanking Active TSS	Fetal Stomach	stomach
37	chr13:76211600-76212200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr13:76211600-76212200	Bivalent Enhancer	Fetal Intestine Large	intestine
39	chr13:76211600-76212400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:76211600-76212400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
41	chr13:76211600-76212400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr13:76211600-76212400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
43	chr13:76211600-76212600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:76211600-76215800	Weak transcription	Gastric	stomach
45	chr13:76211600-76215800	Transcr. at gene 5' and 3'	Osteobl	bone
46	chr13:76211600-76216200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr13:76211600-76232800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr13:76211600-76235600	Weak transcription	Ovary	ovary
49	chr13:76211600-76235600	Weak transcription	Pancreas	Pancrea
50	chr13:76211800-76212000	Bivalent Enhancer	Primary hematopoietic stem cells	blood

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