Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:55933029..55935882-chr1:56759713..56761736,2	K562	blood:

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12118755	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12140921	0.81[EUR][1000 genomes]
rs1341339	0.86[CEU][hapmap]
rs1341345	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1341352	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1417771	0.86[CEU][hapmap];0.81[TSI][hapmap]
rs1539058	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1539059	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17423986	0.80[EUR][1000 genomes]
rs2793685	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2793686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2793687	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6673309	0.86[CEU][hapmap];0.81[TSI][hapmap]
rs947251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];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	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2793678	CDCP2	cis	parietal	SCAN
rs2793678	DMRTB1	cis	cerebellum	SCAN
rs2793678	FGGY	cis	parietal	SCAN
rs2793678	C8B	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56753200-56763600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:56756000-56761800	Weak transcription	HepG2	liver
3	chr1:56757400-56761600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:56757600-56761800	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:56757800-56761600	Weak transcription	Right Atrium	heart
6	chr1:56757800-56762200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:56757800-56762600	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:56757800-56762800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:56757800-56763000	Weak transcription	Fetal Heart	heart
10	chr1:56757800-56763200	Weak transcription	Fetal Intestine Large	intestine
11	chr1:56757800-56764800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:56757800-56765200	Weak transcription	Ovary	ovary
13	chr1:56757800-56786000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:56758000-56763000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:56758000-56768000	Weak transcription	Right Ventricle	heart
16	chr1:56758600-56770400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:56759000-56761400	Weak transcription	Lung	lung
18	chr1:56759400-56760200	Enhancers	Psoas Muscle	Psoas
19	chr1:56759800-56767600	Weak transcription	Aorta	Aorta
20	chr1:56759800-56768000	Weak transcription	Left Ventricle	heart

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