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:24)

rs_ID	r²[population]
rs11800617	1.00[EUR][1000 genomes]
rs11801376	1.00[EUR][1000 genomes]
rs11801784	1.00[EUR][1000 genomes]
rs11802361	1.00[EUR][1000 genomes]
rs11806835	1.00[EUR][1000 genomes]
rs2911574	1.00[EUR][1000 genomes]
rs34769319	1.00[EUR][1000 genomes]
rs57295979	1.00[EUR][1000 genomes]
rs6576716	1.00[EUR][1000 genomes]
rs6688331	1.00[EUR][1000 genomes]
rs72948493	1.00[EUR][1000 genomes]
rs72948498	1.00[EUR][1000 genomes]
rs72950307	1.00[EUR][1000 genomes]
rs72950320	1.00[EUR][1000 genomes]
rs72950348	1.00[EUR][1000 genomes]
rs72950351	1.00[EUR][1000 genomes]
rs72950354	1.00[EUR][1000 genomes]
rs72950365	1.00[EUR][1000 genomes]
rs72950367	1.00[EUR][1000 genomes]
rs72950382	1.00[EUR][1000 genomes]
rs72952106	1.00[EUR][1000 genomes]
rs72952111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72952122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517918	1.00[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:15 , 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	chr1:85076400-85079000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr1:85076600-85079200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:85076800-85077400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:85076800-85078000	Enhancers	Colon Smooth Muscle	Colon
15	chr1:85076800-85078000	Enhancers	NHLF	lung

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