Variant report

Variant	rs59165416
Chromosome Location	chr1:59440619-59440620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59245589..59247526-chr1:59439230..59441535,3	K562	blood:
2	chr1:59244776..59250025-chr1:59439869..59446331,6	K562	blood:
3	chr1:59439614..59442550-chr1:59444130..59447031,3	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17118526	1.00[AMR][1000 genomes]
rs4647011	1.00[AMR][1000 genomes]
rs4647013	1.00[AMR][1000 genomes]
rs4647019	1.00[AMR][1000 genomes]
rs57129742	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58010530	1.00[AMR][1000 genomes]
rs59100869	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078118	1.00[AMR][1000 genomes]
rs74078124	1.00[AMR][1000 genomes]
rs74078128	1.00[AMR][1000 genomes]
rs74078130	1.00[AMR][1000 genomes]
rs74078639	1.00[AMR][1000 genomes]
rs7527545	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59434600-59444200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:59434800-59444000	Weak transcription	Adipose Nuclei	Adipose
3	chr1:59435000-59444600	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:59435000-59444600	Weak transcription	Fetal Thymus	thymus
5	chr1:59435000-59449400	Weak transcription	Small Intestine	intestine
6	chr1:59437800-59441400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:59438000-59441200	Weak transcription	HMEC	breast
8	chr1:59438000-59441800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:59438000-59441800	Weak transcription	Stomach Mucosa	stomach
10	chr1:59438000-59447200	Weak transcription	Left Ventricle	heart
11	chr1:59438200-59441200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:59438200-59447200	Weak transcription	Right Atrium	heart
13	chr1:59438600-59441400	Weak transcription	K562	blood
14	chr1:59438800-59442000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:59438800-59448000	Weak transcription	NHDF-Ad	bronchial
16	chr1:59439000-59441600	Weak transcription	Fetal Intestine Large	intestine
17	chr1:59439000-59444200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:59439000-59448200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:59439200-59441800	Weak transcription	Fetal Intestine Small	intestine
20	chr1:59440000-59443000	Enhancers	Pancreas	Pancrea
21	chr1:59440200-59441600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:59440200-59447200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:59440600-59443800	Weak transcription	Primary B cells from cord blood	blood
24	chr1:59440600-59444000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:59440600-59447200	Weak transcription	Psoas Muscle	Psoas

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