Variant report

Variant	rs17749220
Chromosome Location	chr3:80262713-80262714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10440069	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17816626	0.86[EUR][1000 genomes]
rs3932247	0.83[ASN][1000 genomes]
rs6548681	0.85[EUR][1000 genomes]
rs6788230	0.98[EUR][1000 genomes]
rs9809446	0.86[EUR][1000 genomes]
rs9815576	0.95[EUR][1000 genomes]
rs9861664	0.86[EUR][1000 genomes]
rs9875391	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv590740	chr3:79999534-80575042	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv997786	chr3:80008898-80489031	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536598	chr3:80008898-80489031	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv877030	chr3:80013063-80444843	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1014658	chr3:80035786-80716259	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv536599	chr3:80035786-80716259	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv997720	chr3:80035786-80745662	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1012046	chr3:80125918-80482086	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv470683	chr3:80158184-80269377	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv460732	chr3:80158184-80271286	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv590762	chr3:80158184-80271286	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv520475	chr3:80166311-80269377	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv2763283	chr3:80236103-80266208	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
14	esv3391878	chr3:80254971-80474866	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80257400-80263400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr3:80257600-80263400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:80257600-80264200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:80257600-80267600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:80262200-80263000	Enhancers	Fetal Heart	heart
6	chr3:80262400-80265000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:80262600-80264400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:80262600-80264800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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