Variant report

Variant	rs2570948
Chromosome Location	chr8:103882658-103882659
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	chr8:103880199..103883793-chr8:104071140..104073626,3	K562	blood:
2	chr8:103880964..103882727-chr8:103887740..103890227,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10104704	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1055376	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10808382	0.82[ASN][1000 genomes]
rs1138	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1714399	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1806299	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1961102	0.83[ASN][1000 genomes]
rs1991927	0.92[ASN][1000 genomes]
rs2117313	0.90[ASN][1000 genomes]
rs2304346	0.90[ASN][1000 genomes]
rs2436857	0.82[ASN][1000 genomes]
rs2570939	0.91[ASN][1000 genomes]
rs2570940	0.91[ASN][1000 genomes]
rs2570944	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2570946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2570947	0.97[EUR][1000 genomes]
rs2570949	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2570950	0.97[EUR][1000 genomes]
rs2679741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679742	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2679744	0.99[ASN][1000 genomes]
rs2679746	0.92[ASN][1000 genomes]
rs2679748	0.92[ASN][1000 genomes]
rs2679758	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2679759	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2916558	0.86[ASN][1000 genomes]
rs2916560	0.99[ASN][1000 genomes]
rs2916561	0.96[EUR][1000 genomes]
rs491770	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs492770	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs522547	0.83[ASN][1000 genomes]
rs551241	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs567395	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs599777	0.83[ASN][1000 genomes]
rs601588	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs606335	0.97[ASN][1000 genomes]
rs608236	0.84[ASN][1000 genomes]
rs613049	0.83[ASN][1000 genomes]
rs613559	0.83[ASN][1000 genomes]
rs644299	0.83[ASN][1000 genomes]
rs647313	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs657000	0.83[ASN][1000 genomes]
rs667927	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6921	0.86[ASN][1000 genomes]
rs892486	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2570948	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103877000-103906800	Weak transcription	Gastric	stomach
2	chr8:103877200-103893200	Weak transcription	Pancreas	Pancrea
3	chr8:103877600-103884200	Weak transcription	Aorta	Aorta
4	chr8:103877800-103886400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr8:103877800-103902000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:103877800-103906400	Weak transcription	HSMMtube	muscle
7	chr8:103878000-103887200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:103878000-103906400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:103878000-103908800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:103878200-103883600	Weak transcription	NHDF-Ad	bronchial
11	chr8:103878200-103883800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:103878200-103884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:103878200-103892800	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:103878200-103897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:103878200-103906600	Weak transcription	Ovary	ovary
16	chr8:103878400-103884000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:103878400-103897200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:103878600-103892800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:103878600-103897600	Weak transcription	Fetal Brain Female	brain
20	chr8:103878800-103884400	Weak transcription	Small Intestine	intestine
21	chr8:103878800-103893400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:103878800-103895600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:103878800-103899800	Weak transcription	Esophagus	oesophagus
24	chr8:103879000-103893000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
26	chr8:103880800-103883200	Enhancers	NHEK	skin
27	chr8:103881000-103899000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:103881200-103882800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:103881200-103883000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:103881200-103883000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:103881200-103884000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:103881200-103884200	Weak transcription	Fetal Lung	lung
33	chr8:103881200-103884400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:103881400-103883600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:103881400-103884000	Enhancers	Placenta	Placenta
36	chr8:103882200-103882800	Enhancers	Hela-S3	cervix
37	chr8:103882200-103883000	Enhancers	A549	lung

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