Variant report

Variant	rs9573669
Chromosome Location	chr13:76418720-76418721
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	POLR2A	chr13:76418686-76418764	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76417193..76419149-chr13:76428786..76430734,2	K562	blood:

Variant related genes	Relation type
LMO7	TF binding region
ENSG00000136153	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13378536	0.82[EUR][1000 genomes]
rs41287014	0.82[EUR][1000 genomes]
rs41307595	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322777	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73227994	0.86[EUR][1000 genomes]
rs73227996	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229911	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73229981	0.82[EUR][1000 genomes]
rs73230001	0.82[EUR][1000 genomes]
rs9318382	0.82[EUR][1000 genomes]
rs9318383	0.82[EUR][1000 genomes]
rs9565204	1.00[ASN][1000 genomes]
rs9573666	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573668	0.91[ASN][1000 genomes]
rs9573670	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600589	0.82[EUR][1000 genomes]
rs9600591	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76387800-76427200	Weak transcription	Ovary	ovary
2	chr13:76391200-76431600	Strong transcription	Hela-S3	cervix
3	chr13:76394400-76435800	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:76396400-76432000	Weak transcription	Brain Substantia Nigra	brain
5	chr13:76396400-76436800	Weak transcription	Fetal Brain Male	brain
6	chr13:76399000-76433200	Weak transcription	Small Intestine	intestine
7	chr13:76399800-76433000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:76400800-76428400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr13:76406000-76428600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:76406000-76429600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:76406000-76430600	Strong transcription	Osteobl	bone
12	chr13:76406000-76436800	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr13:76406600-76435000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:76406800-76427800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:76408400-76435000	Strong transcription	HSMMtube	muscle
16	chr13:76408400-76435200	Strong transcription	NH-A	brain
17	chr13:76410200-76419600	Strong transcription	Fetal Intestine Large	intestine
18	chr13:76411000-76420600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr13:76412400-76419200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr13:76412800-76419800	Strong transcription	HepG2	liver
21	chr13:76412800-76420200	Strong transcription	Duodenum Mucosa	Duodenum
22	chr13:76413200-76436800	Strong transcription	NHDF-Ad	bronchial
23	chr13:76413600-76419200	Strong transcription	NHLF	lung
24	chr13:76413800-76437600	Strong transcription	HSMM	muscle
25	chr13:76414000-76433000	Strong transcription	Liver	Liver
26	chr13:76414200-76419200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr13:76414200-76420400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:76414200-76433400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr13:76414400-76419000	Strong transcription	Fetal Intestine Small	intestine
30	chr13:76414400-76419200	Strong transcription	Right Ventricle	heart
31	chr13:76414400-76419200	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr13:76414400-76426200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:76414400-76435200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:76414600-76420200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:76414800-76425400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:76415200-76419200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr13:76415400-76429200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr13:76415600-76421000	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr13:76416000-76426800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr13:76416400-76419000	Strong transcription	Left Ventricle	heart
41	chr13:76416400-76425000	Weak transcription	Esophagus	oesophagus
42	chr13:76416400-76425200	Weak transcription	Lung	lung
43	chr13:76416400-76434600	Weak transcription	Spleen	Spleen
44	chr13:76416600-76423200	Weak transcription	Brain Germinal Matrix	brain
45	chr13:76416600-76423200	Weak transcription	Colonic Mucosa	Colon
46	chr13:76416600-76426400	Weak transcription	HUVEC	blood vessel
47	chr13:76416600-76429800	Weak transcription	Stomach Mucosa	stomach
48	chr13:76417200-76427200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr13:76417200-76427200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:76417400-76423400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links