Variant report

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125826052..125829315-chr8:125964777..125971300,8	K562	blood:
2	chr8:125962308..125964397-chr8:125966591..125968437,2	K562	blood:
3	chr8:125957863..125960286-chr8:125966886..125970018,3	K562	blood:
4	chr8:125551432..125553134-chr8:125968073..125971516,3	MCF-7	breast:
5	chr8:125607119..125608683-chr8:125967904..125969529,2	K562	blood:
6	chr8:125968114..125970117-chr8:125983908..125986351,2	K562	blood:
7	chr8:125962237..125964397-chr8:125966163..125968875,2	MCF-7	breast:
8	chr8:125593451..125595490-chr8:125966290..125968595,2	K562	blood:
9	chr8:125826052..125832853-chr8:125963334..125969415,10	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10099730	0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1427087	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1427093	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2555727	1.00[YRI][hapmap]
rs2590668	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2590669	0.83[CHB][hapmap]
rs2590670	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2590672	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2590674	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725879	0.83[CHB][hapmap]
rs2725881	0.83[CHB][hapmap]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 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	chr8:125960000-125969400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125966400-125968400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:125966400-125969600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:125968000-125968400	Enhancers	Spleen	Spleen
5	chr8:125968000-125969000	Enhancers	Fetal Intestine Small	intestine
6	chr8:125968000-125969000	Enhancers	Left Ventricle	heart
7	chr8:125968000-125969200	Enhancers	Liver	Liver
8	chr8:125968000-125969800	Enhancers	Right Ventricle	heart
9	chr8:125968000-125971600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:125968200-125968600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:125968200-125968600	Enhancers	NHDF-Ad	bronchial
12	chr8:125968200-125968800	Enhancers	Duodenum Mucosa	Duodenum
13	chr8:125968200-125968800	Bivalent Enhancer	HepG2	liver
14	chr8:125968200-125968800	Flanking Active TSS	K562	blood
15	chr8:125968200-125969000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:125968200-125969000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:125968200-125969000	Enhancers	Fetal Heart	heart
18	chr8:125968200-125969000	Enhancers	Fetal Intestine Large	intestine
19	chr8:125968200-125969200	Enhancers	Right Atrium	heart
20	chr8:125968200-125969600	Enhancers	Adipose Nuclei	Adipose
21	chr8:125968200-125970800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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