Variant report

Variant	rs58692001
Chromosome Location	chr1:59358708-59358709
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	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
2	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:

Variant related genes	Relation type
ENSG00000234807	Chromatin interaction
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11207320	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079982	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12239208	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41287670	0.95[ASN][1000 genomes]
rs57136299	1.00[ASN][1000 genomes]
rs59816047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61474703	0.94[ASN][1000 genomes]
rs72921508	1.00[ASN][1000 genomes]
rs744171	0.95[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	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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59319800-59361400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:59348000-59360800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:59351000-59360800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:59351200-59359000	Weak transcription	Brain Substantia Nigra	brain
5	chr1:59351400-59359200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:59351800-59360800	Weak transcription	Fetal Heart	heart
7	chr1:59352000-59359000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:59352200-59358800	Weak transcription	Colonic Mucosa	Colon
9	chr1:59352200-59359000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:59352400-59360800	Weak transcription	Brain Angular Gyrus	brain
11	chr1:59352800-59360600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:59353400-59360000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:59353400-59360800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:59353600-59359000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:59353600-59359000	Weak transcription	Fetal Lung	lung
16	chr1:59353600-59361200	Weak transcription	Ovary	ovary
17	chr1:59353800-59358800	Weak transcription	Lung	lung
18	chr1:59353800-59358800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:59353800-59358800	Weak transcription	Spleen	Spleen
20	chr1:59353800-59359000	Weak transcription	Left Ventricle	heart
21	chr1:59353800-59359400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:59354600-59359000	Weak transcription	Right Atrium	heart
23	chr1:59354800-59360800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:59355000-59359000	Weak transcription	HSMM	muscle
25	chr1:59355000-59359000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr1:59355000-59360000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:59355000-59360800	Weak transcription	HSMMtube	muscle
28	chr1:59355200-59359000	Weak transcription	Pancreas	Pancrea
29	chr1:59355200-59360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:59355800-59359000	Weak transcription	Fetal Thymus	thymus
31	chr1:59355800-59359000	Weak transcription	Right Ventricle	heart
32	chr1:59355800-59360800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:59355800-59361000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:59355800-59361400	Weak transcription	NH-A	brain
35	chr1:59356000-59360800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:59356000-59361200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:59356200-59359200	Weak transcription	Small Intestine	intestine
38	chr1:59356200-59360800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:59356200-59368600	Weak transcription	Esophagus	oesophagus
40	chr1:59356800-59359000	Weak transcription	HepG2	liver
41	chr1:59357400-59359800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:59357600-59359000	Weak transcription	Fetal Intestine Large	intestine
43	chr1:59357800-59359000	Weak transcription	Fetal Intestine Small	intestine
44	chr1:59357800-59364200	Enhancers	K562	blood
45	chr1:59358200-59359800	Enhancers	Psoas Muscle	Psoas
46	chr1:59358200-59367200	Enhancers	HUVEC	blood vessel
47	chr1:59358400-59358800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:59358400-59368600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr1:59358600-59359000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr1:59358600-59360200	Enhancers	Sigmoid Colon	Sigmoid Colon

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