Variant report

Variant	rs4802797
Chromosome Location	chr19:39250015-39250016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10421863	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11083476	0.81[ASN][1000 genomes]
rs11672576	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2080988	0.81[AMR][1000 genomes]
rs2112649	0.80[AMR][1000 genomes]
rs3786841	0.81[AMR][1000 genomes]
rs4619518	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4802743	0.81[AMR][1000 genomes]
rs57845235	0.81[AMR][1000 genomes]
rs7249585	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8107877	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs936524	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[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	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv1064688	chr19:39249059-39291526	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv1061904	chr19:39249692-39302843	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4802797	CAPN12	cis	Heart Left Ventricle	GTEx
rs4802797	CAPN12	cis	Adipose Subcutaneous	GTEx
rs4802797	CAPN12	cis	Esophagus Muscularis	GTEx
rs4802797	CTD-2540F13.2	cis	Nerve Tibial	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39246400-39270800	Weak transcription	K562	blood
2	chr19:39249000-39252200	Enhancers	HepG2	liver
3	chr19:39249000-39252800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:39249600-39250200	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr19:39249600-39250800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:39249800-39250200	Enhancers	Liver	Liver
7	chr19:39249800-39250200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr19:39249800-39250400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr19:39249800-39250600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr19:39249800-39251400	Enhancers	Duodenum Mucosa	Duodenum
11	chr19:39249800-39251400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr19:39249800-39252400	Enhancers	Fetal Intestine Small	intestine
13	chr19:39250000-39250800	Enhancers	Spleen	Spleen

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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