Variant report

Variant	rs62526531
Chromosome Location	chr8:103923432-103923433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103923133..103924849-chr8:104031817..104033651,2	MCF-7	breast:
2	chr8:103875800..103878358-chr8:103923422..103926354,2	K562	blood:
3	chr8:103874964..103877161-chr8:103921319..103923722,3	MCF-7	breast:
4	chr8:103922092..103927536-chr8:103936066..103939373,4	MCF-7	breast:
5	chr8:103910864..103914937-chr8:103922491..103926362,4	MCF-7	breast:
6	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
7	chr8:103922274..103923798-chr8:104084913..104086435,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000244052	Chromatin interaction
ENSG00000155097	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11986658	0.89[EUR][1000 genomes]
rs11989703	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12545210	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546520	0.89[EUR][1000 genomes]
rs2304344	0.91[EUR][1000 genomes]
rs34239044	0.98[ASN][1000 genomes]
rs4734677	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58867349	0.98[ASN][1000 genomes]
rs62522580	0.89[EUR][1000 genomes]
rs6985891	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686911	0.89[EUR][1000 genomes]
rs7826791	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62526531	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103913400-103929800	Weak transcription	Psoas Muscle	Psoas
2	chr8:103917400-103925800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:103920600-103923600	Enhancers	HMEC	breast
4	chr8:103920600-103923800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:103921000-103923600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:103921200-103923600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:103921200-103923600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:103921200-103923600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:103921200-103923600	Enhancers	NHLF	lung
10	chr8:103921200-103923800	Enhancers	NHEK	skin
11	chr8:103922000-103923600	Enhancers	Fetal Heart	heart
12	chr8:103922000-103923600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:103922200-103923600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:103922200-103923600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:103922200-103929600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:103922400-103923600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:103922600-103923600	Enhancers	HUVEC	blood vessel
18	chr8:103922600-103923800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:103922800-103923600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:103922800-103923600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:103922800-103924000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:103922800-103924400	Weak transcription	Spleen	Spleen
23	chr8:103922800-103925600	Weak transcription	Small Intestine	intestine
24	chr8:103922800-103929800	Weak transcription	Fetal Brain Male	brain
25	chr8:103922800-103930600	Weak transcription	Ovary	ovary
26	chr8:103923000-103923600	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:103923000-103923600	Enhancers	HSMM	muscle
28	chr8:103923000-103925600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:103923000-103925600	Weak transcription	Lung	lung
30	chr8:103923000-103925600	Weak transcription	Right Atrium	heart
31	chr8:103923000-103925600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:103923000-103925800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:103923000-103925800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:103923000-103925800	Weak transcription	Aorta	Aorta
35	chr8:103923000-103925800	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:103923000-103925800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:103923000-103925800	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:103923000-103926200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:103923000-103926400	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:103923000-103927200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr8:103923000-103927200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr8:103923000-103927200	Weak transcription	Pancreas	Pancrea
43	chr8:103923000-103929400	Weak transcription	Left Ventricle	heart
44	chr8:103923000-103929600	Weak transcription	Placenta	Placenta
45	chr8:103923000-103931000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:103923000-103931000	Weak transcription	Brain Substantia Nigra	brain
47	chr8:103923000-103931600	Weak transcription	Fetal Stomach	stomach
48	chr8:103923000-103932000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:103923200-103923600	Enhancers	A549	lung
50	chr8:103923200-103923600	Enhancers	NHDF-Ad	bronchial

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