Variant report

Variant	rs74099526
Chromosome Location	chr12:59264497-59264498
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11833795	0.95[ASN][1000 genomes]
rs11835001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17121641	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57447481	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61096689	0.95[ASN][1000 genomes]
rs74099520	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74099521	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv3440532	chr12:59244734-59266539	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59251000-59266400	Weak transcription	Esophagus	oesophagus
2	chr12:59253000-59270200	Weak transcription	Fetal Brain Male	brain
3	chr12:59253400-59265400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:59254600-59268600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:59254800-59266400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:59254800-59267000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:59255000-59265400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:59255000-59267400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:59255400-59267000	Weak transcription	Pancreas	Pancrea
10	chr12:59256200-59266400	Weak transcription	Left Ventricle	heart
11	chr12:59256600-59266400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:59257000-59270800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:59257400-59264600	Strong transcription	NHDF-Ad	bronchial
14	chr12:59257600-59266600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:59257800-59265400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:59258000-59266400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:59258000-59266800	Weak transcription	Psoas Muscle	Psoas
18	chr12:59258000-59267000	Weak transcription	Gastric	stomach
19	chr12:59258000-59267200	Weak transcription	Aorta	Aorta
20	chr12:59258600-59267000	Weak transcription	Lung	lung
21	chr12:59258800-59265400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:59258800-59266400	Weak transcription	Colonic Mucosa	Colon
23	chr12:59258800-59266400	Weak transcription	Right Ventricle	heart
24	chr12:59258800-59266600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:59258800-59266800	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:59258800-59267400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:59259000-59266600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:59259200-59265400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:59259200-59270200	Strong transcription	HMEC	breast
30	chr12:59259800-59267200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:59260000-59267400	Weak transcription	Brain Substantia Nigra	brain
32	chr12:59260200-59266400	Weak transcription	Placenta	Placenta
33	chr12:59260400-59267000	Weak transcription	Fetal Stomach	stomach
34	chr12:59260400-59267200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:59260400-59267200	Weak transcription	Fetal Intestine Small	intestine
36	chr12:59260400-59270200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:59260600-59284200	Strong transcription	HUVEC	blood vessel
38	chr12:59260800-59265600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:59260800-59267600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:59261400-59264800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:59261400-59267600	Strong transcription	NH-A	brain
42	chr12:59261400-59270800	Strong transcription	Liver	Liver
43	chr12:59261400-59284200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:59261600-59284200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr12:59261800-59265800	Weak transcription	Fetal Kidney	kidney
46	chr12:59261800-59270200	Strong transcription	HSMM	muscle
47	chr12:59261800-59275000	Strong transcription	Fetal Lung	lung
48	chr12:59261800-59280800	Strong transcription	Fetal Intestine Large	intestine
49	chr12:59262000-59265200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:59262200-59266600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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