Variant report

Variant	rs4467940
Chromosome Location	chr8:25531984-25531985
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:25530880..25534453-chr8:25535358..25538817,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10104885	1.00[AMR][1000 genomes]
rs17054083	1.00[AMR][1000 genomes]
rs17054095	1.00[AMR][1000 genomes]
rs2114045	1.00[AMR][1000 genomes]
rs28616039	1.00[AMR][1000 genomes]
rs4617162	1.00[AMR][1000 genomes]
rs73677981	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890689	chr8:25124350-25719075	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv2755872	chr8:25499467-25598598	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1031625	chr8:25512062-25584329	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1033161	chr8:25518149-25584103	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1029150	chr8:25518149-25587630	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1029008	chr8:25518149-25595220	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv517955	chr8:25519212-25572870	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv528079	chr8:25519212-25572870	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv465623	chr8:25519212-25572870	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv610847	chr8:25519212-25572870	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv2753154	chr8:25521582-25558545	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv2753563	chr8:25521582-25598401	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv465624	chr8:25524005-25572870	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv610848	chr8:25524005-25572870	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv465625	chr8:25526317-25539830	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv610849	chr8:25526317-25539830	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:25529600-25532000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:25530000-25533600	Enhancers	NHDF-Ad	bronchial
3	chr8:25530400-25532400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:25530400-25532400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
5	chr8:25530600-25532000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr8:25530600-25533000	Weak transcription	Brain Germinal Matrix	brain
7	chr8:25531200-25532400	Enhancers	HMEC	breast
8	chr8:25531200-25532400	Enhancers	NHLF	lung
9	chr8:25531200-25532600	Enhancers	HSMM	muscle
10	chr8:25531200-25532800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:25531200-25532800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:25531200-25533000	Enhancers	Osteobl	bone
13	chr8:25531200-25533600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr8:25531400-25532000	Enhancers	Hela-S3	cervix
15	chr8:25531400-25532200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr8:25531400-25532400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr8:25531400-25532400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:25531400-25532400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:25531400-25532400	Enhancers	NH-A	brain
20	chr8:25531400-25532600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:25531400-25532800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:25531400-25533600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr8:25531600-25532200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:25531600-25532400	Enhancers	NHEK	skin
25	chr8:25531600-25533600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:25531600-25537000	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:25531800-25532000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr8:25531800-25532400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:25531800-25533000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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