Variant report

Variant	rs4719874
Chromosome Location	chr7:26633501-26633502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10226436	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10232625	0.80[ASN][1000 genomes]
rs10232714	0.80[ASN][1000 genomes]
rs10235930	0.80[ASN][1000 genomes]
rs10264935	0.80[ASN][1000 genomes]
rs2391304	0.80[ASN][1000 genomes]
rs4532501	0.80[ASN][1000 genomes]
rs4534040	0.80[ASN][1000 genomes]
rs4640957	0.80[ASN][1000 genomes]
rs4722616	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv830929	chr7:26587888-26749735	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4719874	SKAP2	cis	lymphoblastoid	seeQTL
rs4719874	HOXA9	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26631800-26635000	Enhancers	Fetal Muscle Leg	muscle
2	chr7:26632400-26633800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:26632400-26634800	Enhancers	Fetal Brain Male	brain
4	chr7:26632800-26633800	Enhancers	Adipose Nuclei	Adipose
5	chr7:26632800-26633800	Enhancers	Fetal Heart	heart
6	chr7:26632800-26635000	Enhancers	Fetal Brain Female	brain
7	chr7:26632800-26635000	Enhancers	Fetal Lung	lung
8	chr7:26633200-26634000	Enhancers	Brain Germinal Matrix	brain
9	chr7:26633200-26634400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr7:26633400-26633600	Flanking Active TSS	Fetal Stomach	stomach
11	chr7:26633400-26633600	Enhancers	Stomach Smooth Muscle	stomach

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Input of quick search could be:

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

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