Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:88085983..88088623-chr3:88097073..88098808,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11128018	0.81[ASN][1000 genomes]
rs11128019	0.81[ASN][1000 genomes]
rs11915058	0.81[ASN][1000 genomes]
rs17549213	0.81[ASN][1000 genomes]
rs17549345	0.81[ASN][1000 genomes]
rs2344185	0.85[ASN][1000 genomes]
rs55771815	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55840331	0.81[ASN][1000 genomes]
rs56006017	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56173847	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56323967	0.82[AMR][1000 genomes]
rs58658187	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60099577	0.81[ASN][1000 genomes]
rs67047416	0.81[ASN][1000 genomes]
rs67566069	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6785333	0.83[ASN][1000 genomes]
rs6798161	0.83[AMR][1000 genomes]
rs68042814	0.81[ASN][1000 genomes]
rs6804848	0.83[AMR][1000 genomes]
rs68068970	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73144053	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9681975	0.83[AMR][1000 genomes]
rs9852704	0.85[ASN][1000 genomes]
rs9859034	0.85[ASN][1000 genomes]
rs9880480	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877146	chr3:87983962-88159835	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv536635	chr3:88049304-88088520	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv916330	chr3:88083580-88884125	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv525814	chr3:88085633-88091543	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88081800-88091200	Weak transcription	Right Atrium	heart
2	chr3:88082400-88087800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:88085200-88089000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:88085400-88088000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:88086000-88087600	Weak transcription	HSMM	muscle
6	chr3:88086400-88087800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:88086600-88087200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:88086600-88088600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:88086600-88089000	Enhancers	NHDF-Ad	bronchial
10	chr3:88086800-88087600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:88086800-88089000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:88087000-88087800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:88087000-88088400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:88087000-88088400	Enhancers	HMEC	breast
15	chr3:88087000-88088400	Enhancers	NHEK	skin

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