Variant report

Variant	rs4780231
Chromosome Location	chr15:34514826-34514827
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:34448397..34450859-chr15:34513011..34515054,2	K562	blood:
2	chr15:34512144..34514985-chr15:34525295..34527428,3	K562	blood:
3	chr15:34498121..34503791-chr15:34514506..34519551,14	K562	blood:
4	chr15:34514547..34516145-chr15:34521296..34523064,2	K562	blood:
5	chr15:34513565..34517614-chr15:34877827..34881077,3	K562	blood:
6	chr15:34392570..34395907-chr15:34514179..34517187,3	K562	blood:
7	chr15:34507877..34510107-chr15:34514805..34516525,2	K562	blood:
8	chr15:34507802..34510107-chr15:34514805..34516996,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134152	Chromatin interaction
ENSG00000215252	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000134153	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10851952	0.84[JPT][hapmap]
rs10851964	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1133154	0.83[ASN][1000 genomes]
rs11631981	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12050753	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs12437551	0.84[JPT][hapmap]
rs12591315	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16958878	0.82[ASN][1000 genomes]
rs17236763	0.86[ASN][1000 genomes]
rs17236777	0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs17236784	0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs17236798	0.81[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs17236819	0.85[ASN][1000 genomes]
rs17817800	0.84[JPT][hapmap]
rs17817806	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2244040	0.85[ASN][1000 genomes]
rs2290940	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs2290941	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs2290942	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs4238572	0.85[CHB][hapmap]
rs4530104	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4577050	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4780232	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4780233	0.81[CEU][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs56761496	0.82[ASN][1000 genomes]
rs57494441	0.86[ASN][1000 genomes]
rs59023791	0.83[ASN][1000 genomes]
rs59091709	0.83[ASN][1000 genomes]
rs59209438	0.80[ASN][1000 genomes]
rs59712831	0.86[ASN][1000 genomes]
rs60165224	0.85[ASN][1000 genomes]
rs60604568	0.85[ASN][1000 genomes]
rs61549125	0.82[ASN][1000 genomes]
rs6495646	0.81[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs7164448	0.81[AMR][1000 genomes]
rs7180200	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73386033	0.83[ASN][1000 genomes]
rs73386037	0.83[ASN][1000 genomes]
rs73386038	0.83[ASN][1000 genomes]
rs73388003	0.86[ASN][1000 genomes]
rs8035954	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8036468	0.86[CEU][hapmap];0.84[JPT][hapmap]

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	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4780231	NOP10	cis	Thyroid	GTEx
rs4780231	KATNBL1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34507200-34516200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr15:34510200-34515600	Weak transcription	K562	blood
3	chr15:34510200-34516200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:34510400-34516000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:34510400-34516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:34510400-34516000	Weak transcription	NHEK	skin
7	chr15:34510400-34516200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr15:34510400-34516200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:34510400-34516200	Weak transcription	NHDF-Ad	bronchial
10	chr15:34510600-34516000	Weak transcription	Hela-S3	cervix
11	chr15:34511800-34516200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:34514000-34516400	Weak transcription	HUVEC	blood vessel

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