Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56765576..56767603-chr1:56768909..56770927,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10789017	0.82[EUR][1000 genomes]
rs1341353	0.82[ASN][1000 genomes]
rs2096086	0.82[EUR][1000 genomes]
rs2777758	0.82[AMR][1000 genomes]
rs2792774	0.82[AMR][1000 genomes]
rs2792775	0.82[AMR][1000 genomes]
rs2792776	0.82[AMR][1000 genomes]
rs2792783	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2793663	0.82[AMR][1000 genomes]
rs2793665	0.82[AMR][1000 genomes]
rs2793666	0.82[AMR][1000 genomes]
rs2793672	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2793675	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2793677	0.81[EUR][1000 genomes]
rs2793681	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2793683	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2793684	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2793688	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9436537	0.82[AMR][1000 genomes]
rs9436538	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9436999	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs947252	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1006422	chr1:56734772-56828606	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534972	chr1:56734772-56828606	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2793690	TTC4	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56757800-56786000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:56758600-56770400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:56763800-56770400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:56764000-56773400	Weak transcription	Psoas Muscle	Psoas
5	chr1:56765200-56795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:56765800-56775000	Weak transcription	HepG2	liver
7	chr1:56766600-56770000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:56767000-56769800	Enhancers	NHDF-Ad	bronchial
9	chr1:56767800-56769600	Enhancers	Right Atrium	heart
10	chr1:56767800-56770000	Enhancers	Placenta	Placenta
11	chr1:56768000-56770000	Enhancers	Left Ventricle	heart
12	chr1:56768000-56770400	Enhancers	Right Ventricle	heart
13	chr1:56768200-56772000	Enhancers	Fetal Heart	heart
14	chr1:56768200-56791000	Weak transcription	Aorta	Aorta
15	chr1:56769000-56769800	Weak transcription	Fetal Intestine Small	intestine
16	chr1:56769000-56770200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:56769000-56771800	Weak transcription	Fetal Intestine Large	intestine
18	chr1:56769200-56770000	Enhancers	Ovary	ovary
19	chr1:56769400-56770200	Enhancers	Fetal Stomach	stomach
20	chr1:56769400-56770400	Enhancers	Brain Substantia Nigra	brain
21	chr1:56769400-56770600	Enhancers	Brain Hippocampus Middle	brain

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