Variant report

Variant	rs4680766
Chromosome Location	chr3:28653629-28653630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:28652904..28655758-chr3:28658180..28660638,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13327669	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1599489	0.80[ASN][1000 genomes]
rs4680700	0.97[ASN][1000 genomes]
rs4680767	1.00[ASN][1000 genomes]
rs4680768	0.98[ASN][1000 genomes]
rs6549862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6770119	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6773699	0.80[ASN][1000 genomes]
rs7613869	1.00[ASN][1000 genomes]
rs7619777	0.82[ASN][1000 genomes]
rs7640750	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9844256	0.85[ASN][1000 genomes]
rs9845964	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1015015	chr3:28461972-28728494	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv916364	chr3:28468275-29146280	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv590010	chr3:28469830-28727214	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28650200-28655400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:28651600-28654400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:28651800-28655200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:28652200-28654600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:28652800-28654200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:28652800-28654200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:28652800-28654400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr3:28652800-28654600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:28653000-28653800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:28653000-28654200	Enhancers	Brain Substantia Nigra	brain
11	chr3:28653000-28654400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:28653200-28653800	Weak transcription	Aorta	Aorta
13	chr3:28653200-28654400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:28653200-28655000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:28653400-28654000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:28653400-28657800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:28653600-28654000	Weak transcription	Pancreas	Pancrea
18	chr3:28653600-28654200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:28653600-28654200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:28653600-28654200	Enhancers	Brain Hippocampus Middle	brain
21	chr3:28653600-28654400	Enhancers	Brain Cingulate Gyrus	brain

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