Variant report

Variant	rs8012083
Chromosome Location	chr14:56258546-56258547
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10138273	0.87[ASN][1000 genomes]
rs10145326	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11158056	0.88[EUR][1000 genomes]
rs12433383	0.91[EUR][1000 genomes]
rs2152275	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2184561	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4901602	0.96[CEU][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs55802027	0.89[EUR][1000 genomes]
rs67224654	0.91[EUR][1000 genomes]
rs7150603	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8006501	0.90[EUR][1000 genomes]
rs8012472	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8012607	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901969	chr14:56183127-56258997	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv901970	chr14:56183127-56265176	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv901971	chr14:56183127-56265176	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv901975	chr14:56192577-56260033	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv901976	chr14:56192577-56265176	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8012083	DDHD1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56249000-56260800	Weak transcription	K562	blood
2	chr14:56251800-56259600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:56256200-56259000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:56256400-56261800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:56256800-56259000	Enhancers	HUVEC	blood vessel
6	chr14:56257000-56260000	Weak transcription	Spleen	Spleen
7	chr14:56257400-56258600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr14:56257400-56263000	Enhancers	Hela-S3	cervix
9	chr14:56257600-56258600	Enhancers	Stomach Mucosa	stomach
10	chr14:56257600-56258800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:56257600-56258800	Weak transcription	Left Ventricle	heart
12	chr14:56257600-56271600	Weak transcription	Gastric	stomach
13	chr14:56258000-56258600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:56258000-56258600	Enhancers	Adipose Nuclei	Adipose
15	chr14:56258200-56261200	Weak transcription	A549	lung
16	chr14:56258400-56258600	Enhancers	Psoas Muscle	Psoas

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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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