Variant report

Variant	rs17112720
Chromosome Location	chr1:56189083-56189084
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56183975..56186829-chr1:56187423..56190169,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs17101352	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17112607	0.89[AFR][1000 genomes]
rs17112640	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17112655	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17112662	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17112669	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17112694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17112697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17112709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3862235	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6588570	0.88[EUR][1000 genomes]
rs6668994	0.88[EUR][1000 genomes]
rs72669747	0.89[AFR][1000 genomes]
rs72669760	0.88[EUR][1000 genomes]
rs72669761	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72669762	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72669764	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72669768	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72669776	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72669778	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72669779	0.88[EUR][1000 genomes]
rs72669780	0.88[EUR][1000 genomes]
rs72669781	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72669782	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72669783	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72669788	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72669791	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72669793	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72669796	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72669797	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72669798	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72671411	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72671413	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72671420	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72671428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56180000-56190600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:56185200-56190400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:56185200-56191800	Weak transcription	Aorta	Aorta
4	chr1:56186400-56190200	Weak transcription	Hela-S3	cervix
5	chr1:56186400-56190600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:56186400-56192200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:56186400-56207600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:56186600-56189400	Weak transcription	HSMMtube	muscle
9	chr1:56186600-56192200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:56186800-56189400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:56186800-56192400	Weak transcription	Fetal Stomach	stomach
12	chr1:56187600-56191200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:56187800-56190600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:56187800-56192000	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:56187800-56192400	Enhancers	HSMM	muscle
16	chr1:56188600-56189200	Enhancers	HMEC	breast
17	chr1:56188600-56189600	Enhancers	NHLF	lung
18	chr1:56188600-56190800	Enhancers	Osteobl	bone
19	chr1:56188600-56191200	Enhancers	Ovary	ovary
20	chr1:56188600-56191400	Enhancers	NHDF-Ad	bronchial
21	chr1:56188600-56191600	Enhancers	NH-A	brain
22	chr1:56188600-56193400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:56188800-56189400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:56188800-56192400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:56189000-56189600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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