Variant report

Variant	rs73075154
Chromosome Location	chr12:20673363-20673364
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10770666	0.89[ASN][1000 genomes]
rs11045291	0.84[ASN][1000 genomes]
rs11045298	0.80[ASN][1000 genomes]
rs11045299	0.81[ASN][1000 genomes]
rs12423118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12580359	0.80[ASN][1000 genomes]
rs12820858	0.80[ASN][1000 genomes]
rs2311	0.81[ASN][1000 genomes]
rs35340841	0.83[ASN][1000 genomes]
rs35529204	0.84[ASN][1000 genomes]
rs4304839	0.81[ASN][1000 genomes]
rs4502032	0.80[ASN][1000 genomes]
rs4561252	0.82[ASN][1000 genomes]
rs4598713	0.80[ASN][1000 genomes]
rs4627131	0.82[ASN][1000 genomes]
rs4762970	0.80[ASN][1000 genomes]
rs55975172	0.83[ASN][1000 genomes]
rs57544392	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58362327	0.80[ASN][1000 genomes]
rs6487100	0.88[ASN][1000 genomes]
rs6487101	0.89[ASN][1000 genomes]
rs6487103	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6487104	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6487105	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67369958	0.83[ASN][1000 genomes]
rs73075175	0.81[ASN][1000 genomes]
rs7955323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7969959	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20662400-20674600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:20667400-20673800	Weak transcription	A549	lung
3	chr12:20667600-20680200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:20668200-20673600	Weak transcription	Aorta	Aorta
5	chr12:20670600-20674600	Weak transcription	Fetal Intestine Small	intestine
6	chr12:20670800-20679400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:20671000-20675600	Weak transcription	Osteobl	bone
8	chr12:20671000-20679800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:20671800-20674800	Strong transcription	Hela-S3	cervix
10	chr12:20672200-20675000	Enhancers	Left Ventricle	heart
11	chr12:20672600-20673800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:20672600-20674000	Enhancers	Fetal Muscle Leg	muscle
13	chr12:20672600-20674000	Enhancers	Right Ventricle	heart
14	chr12:20672800-20673800	Strong transcription	Fetal Intestine Large	intestine
15	chr12:20673000-20673400	Weak transcription	Right Atrium	heart
16	chr12:20673000-20673600	Enhancers	Brain Germinal Matrix	brain
17	chr12:20673000-20674000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr12:20673000-20674000	Enhancers	Fetal Lung	lung
19	chr12:20673000-20674000	Enhancers	Ovary	ovary
20	chr12:20673000-20677200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:20673200-20673800	Enhancers	Fetal Brain Female	brain
22	chr12:20673200-20673800	Enhancers	NHDF-Ad	bronchial
23	chr12:20673200-20674000	Enhancers	Colon Smooth Muscle	Colon
24	chr12:20673200-20675200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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