Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85076342..85078596-chr1:85080443..85082474,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12119873	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12123470	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12127160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131448	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12137275	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12141472	0.81[EUR][1000 genomes]
rs12145771	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1417295	0.85[EUR][1000 genomes]
rs1517601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1914477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911594	0.90[EUR][1000 genomes]
rs2911597	0.85[EUR][1000 genomes]
rs2911598	0.83[EUR][1000 genomes]
rs2911599	0.85[EUR][1000 genomes]
rs2911607	0.85[EUR][1000 genomes]
rs2911609	0.84[EUR][1000 genomes]
rs2943671	0.83[EUR][1000 genomes]
rs2945143	0.84[EUR][1000 genomes]
rs2945145	0.84[EUR][1000 genomes]
rs2945147	0.84[EUR][1000 genomes]
rs2994934	0.83[EUR][1000 genomes]
rs2994935	0.85[EUR][1000 genomes]
rs2994937	0.85[EUR][1000 genomes]
rs2994938	0.85[EUR][1000 genomes]
rs2994948	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4356070	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3364770	chr1:85069339-85078334	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85069600-85077400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:85070200-85077400	Weak transcription	Fetal Heart	heart
3	chr1:85070400-85079600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:85070400-85085200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:85071200-85077200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:85071600-85077600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:85071600-85085000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:85071800-85079800	Weak transcription	Pancreas	Pancrea
9	chr1:85071800-85084800	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:85072000-85077200	Weak transcription	Brain Substantia Nigra	brain
11	chr1:85075400-85076800	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:85076400-85079000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr1:85076600-85079200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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