Variant report

Variant	rs2945142
Chromosome Location	chr1:85077007-85077008
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1417295	0.96[ASN][1000 genomes]
rs1850508	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1850509	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2007454	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911590	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2911595	0.86[EUR][1000 genomes]
rs2911603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911604	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911605	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911607	0.96[ASN][1000 genomes]
rs2911609	0.96[ASN][1000 genomes]
rs2943663	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943669	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2943670	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2943675	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2943676	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2943677	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2943678	0.86[EUR][1000 genomes]
rs2945140	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945146	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2945148	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2945149	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945150	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2945152	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945155	0.87[EUR][1000 genomes]
rs2945158	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2945160	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2994435	0.96[ASN][1000 genomes]
rs2994934	0.96[ASN][1000 genomes]
rs2994935	0.97[ASN][1000 genomes]
rs2994940	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2994943	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2994944	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2994946	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2994947	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs880412	0.97[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	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:19 , 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
16	chr1:85077000-85077200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:85077000-85077400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:85077000-85077800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:85077000-85078000	Enhancers	Brain Inferior Temporal Lobe	brain

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