Variant report

Variant	rs2716120
Chromosome Location	chr1:59360122-59360123
allele	C/T
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
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2716105	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2716107	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3015311	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72921515	0.82[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	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:68 , 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	chr1:59351800-59360800	Weak transcription	Fetal Heart	heart
5	chr1:59352400-59360800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:59352800-59360600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:59353400-59360800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:59353600-59361200	Weak transcription	Ovary	ovary
9	chr1:59354800-59360800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:59355000-59360800	Weak transcription	HSMMtube	muscle
11	chr1:59355200-59360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:59355800-59360800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:59355800-59361000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:59355800-59361400	Weak transcription	NH-A	brain
15	chr1:59356000-59360800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:59356000-59361200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:59356200-59360800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:59356200-59368600	Weak transcription	Esophagus	oesophagus
19	chr1:59357800-59364200	Enhancers	K562	blood
20	chr1:59358200-59367200	Enhancers	HUVEC	blood vessel
21	chr1:59358400-59368600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:59358600-59360200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:59358600-59361400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:59358600-59361400	Enhancers	Stomach Mucosa	stomach
25	chr1:59358600-59361800	Enhancers	Gastric	stomach
26	chr1:59358600-59367000	Enhancers	Adipose Nuclei	Adipose
27	chr1:59358800-59360200	Enhancers	Colonic Mucosa	Colon
28	chr1:59358800-59360200	Enhancers	Spleen	Spleen
29	chr1:59358800-59360800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:59358800-59361400	Enhancers	Duodenum Mucosa	Duodenum
31	chr1:59358800-59365800	Enhancers	Lung	lung
32	chr1:59358800-59367000	Enhancers	Fetal Muscle Leg	muscle
33	chr1:59359000-59360200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:59359000-59360400	Enhancers	Right Atrium	heart
35	chr1:59359000-59360800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr1:59359000-59361600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr1:59359000-59363000	Enhancers	Fetal Muscle Trunk	muscle
38	chr1:59359000-59363600	Enhancers	Pancreas	Pancrea
39	chr1:59359000-59363800	Enhancers	Right Ventricle	heart
40	chr1:59359000-59365800	Enhancers	Left Ventricle	heart
41	chr1:59359000-59366400	Enhancers	Primary hematopoietic stem cells	blood
42	chr1:59359000-59367000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr1:59359000-59367200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:59359000-59368600	Enhancers	Fetal Intestine Small	intestine
45	chr1:59359000-59368800	Enhancers	Fetal Intestine Large	intestine
46	chr1:59359200-59366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:59359400-59361800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:59359400-59361800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:59359600-59360600	Weak transcription	HepG2	liver
50	chr1:59359600-59360600	Weak transcription	HSMM	muscle

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