Variant report

Variant	rs35524314
Chromosome Location	chr1:78694884-78694885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11804237	0.80[ASN][1000 genomes]
rs11806671	0.93[ASN][1000 genomes]
rs12734182	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1335482	0.80[ASN][1000 genomes]
rs2208968	0.93[ASN][1000 genomes]
rs34040409	0.93[ASN][1000 genomes]
rs34651709	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3811442	0.80[ASN][1000 genomes]
rs6682319	0.80[ASN][1000 genomes]
rs71641331	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72688718	0.87[ASN][1000 genomes]
rs7529494	0.93[ASN][1000 genomes]
rs7537720	0.93[ASN][1000 genomes]
rs7547287	0.93[ASN][1000 genomes]
rs7554427	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35524314	AK5	cis	Thyroid	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78689800-78697800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:78689800-78702400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:78689800-78703000	Weak transcription	Pancreas	Pancrea
4	chr1:78693400-78695200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:78694000-78695800	Enhancers	Hela-S3	cervix
6	chr1:78694400-78695800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:78694600-78695000	Weak transcription	Liver	Liver
8	chr1:78694600-78695400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:78694600-78695600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr1:78694600-78695600	Enhancers	HMEC	breast
11	chr1:78694600-78695800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:78694600-78699800	Weak transcription	Brain Germinal Matrix	brain
13	chr1:78694800-78695400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:78694800-78695400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:78694800-78695600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:78694800-78695800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:78694800-78695800	Enhancers	Osteobl	bone

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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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