Variant report

Variant	rs7488735
Chromosome Location	chr12:20667161-20667162
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10770665	0.85[CEU][hapmap];0.91[CHB][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap]
rs10770666	0.89[ASN][1000 genomes]
rs10770668	0.85[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs10841555	0.87[ASN][1000 genomes]
rs10841556	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10841557	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10841561	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs11045285	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11045288	0.98[ASN][1000 genomes]
rs11045291	0.91[ASN][1000 genomes]
rs11045298	0.87[ASN][1000 genomes]
rs11045299	0.93[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs11045301	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs12425566	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12580359	0.87[ASN][1000 genomes]
rs12813387	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs12820858	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12822341	0.86[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs2311	0.82[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs35340841	0.96[ASN][1000 genomes]
rs35466062	0.85[ASN][1000 genomes]
rs35529204	0.95[ASN][1000 genomes]
rs35574173	0.85[ASN][1000 genomes]
rs4304839	0.85[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs4353322	0.84[CHB][hapmap];0.86[ASN][1000 genomes]
rs4502032	0.82[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4561252	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4598713	0.84[ASN][1000 genomes]
rs4627131	0.86[ASN][1000 genomes]
rs4762969	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs4762970	0.84[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4762971	0.86[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs55975172	0.86[ASN][1000 genomes]
rs58362327	0.87[ASN][1000 genomes]
rs6487100	0.90[ASN][1000 genomes]
rs6487101	0.87[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs6487105	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs67369958	0.93[ASN][1000 genomes]
rs7131827	0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7303620	0.81[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs73075175	0.88[ASN][1000 genomes]
rs7308418	0.86[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7316700	0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs7487165	0.86[JPT][hapmap]
rs7488869	0.85[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7959560	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7965577	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7969959	0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20660800-20667600	Weak transcription	Fetal Heart	heart
2	chr12:20660800-20672800	Weak transcription	Fetal Intestine Large	intestine
3	chr12:20661200-20667600	Weak transcription	Aorta	Aorta
4	chr12:20661200-20673200	Weak transcription	NHDF-Ad	bronchial
5	chr12:20662000-20670600	Weak transcription	Osteobl	bone
6	chr12:20662200-20670600	Weak transcription	Right Atrium	heart
7	chr12:20662400-20674600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:20664400-20672200	Weak transcription	Left Ventricle	heart
9	chr12:20666400-20667400	Enhancers	A549	lung
10	chr12:20666600-20669600	Strong transcription	Hela-S3	cervix
11	chr12:20666800-20667200	Weak transcription	Colon Smooth Muscle	Colon

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