Variant report

Variant	rs567395
Chromosome Location	chr8:103914490-103914491
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103910864..103914937-chr8:103922491..103926362,4	MCF-7	breast:
2	chr8:103909625..103914681-chr8:103915019..103918768,8	MCF-7	breast:
3	chr8:103903842..103907470-chr8:103913570..103917002,5	MCF-7	breast:
4	chr8:103913695..103915719-chr8:103927933..103930318,2	MCF-7	breast:
5	chr8:103903395..103905435-chr8:103912385..103915123,2	MCF-7	breast:
6	chr8:103886724..103888793-chr8:103913396..103915267,2	MCF-7	breast:
7	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000253263	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10104704	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1055376	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1434235	0.81[ASN][1000 genomes]
rs1714399	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1806299	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2164061	0.83[ASN][1000 genomes]
rs2256440	0.81[ASN][1000 genomes]
rs2436844	0.80[ASN][1000 genomes]
rs2436846	0.81[ASN][1000 genomes]
rs2436847	0.83[ASN][1000 genomes]
rs2436848	0.83[ASN][1000 genomes]
rs2513913	0.83[ASN][1000 genomes]
rs2513921	0.81[ASN][1000 genomes]
rs2513922	0.81[ASN][1000 genomes]
rs2513935	0.81[ASN][1000 genomes]
rs2570942	0.83[ASN][1000 genomes]
rs2570946	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2570947	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2570948	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2570950	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679741	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2679742	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679749	0.83[ASN][1000 genomes]
rs2679751	0.83[ASN][1000 genomes]
rs2679752	0.83[ASN][1000 genomes]
rs2679754	0.92[ASN][1000 genomes]
rs2679755	0.94[ASN][1000 genomes]
rs2679756	0.94[ASN][1000 genomes]
rs2679757	0.94[ASN][1000 genomes]
rs2679759	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28594922	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2916561	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3018956	0.80[ASN][1000 genomes]
rs34655485	0.81[ASN][1000 genomes]
rs491770	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs492770	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs548488	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs551241	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs565720	0.90[AFR][1000 genomes]
rs601588	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs647313	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs665298	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs667927	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs678839	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs892484	0.94[ASN][1000 genomes]
rs972142	0.81[ASN][1000 genomes]
rs974759	0.81[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs567395	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:103894200-103914600	Weak transcription	Fetal Lung	lung
3	chr8:103907400-103915000	Weak transcription	Fetal Stomach	stomach
4	chr8:103907600-103922600	Weak transcription	Brain Germinal Matrix	brain
5	chr8:103907800-103922000	Weak transcription	Fetal Brain Female	brain
6	chr8:103907800-103922600	Weak transcription	Gastric	stomach
7	chr8:103909200-103918200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:103909400-103918600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:103910200-103915000	Weak transcription	Pancreas	Pancrea
10	chr8:103910800-103915000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:103910800-103915400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:103910800-103921400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:103911000-103915000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:103911000-103915000	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:103911000-103915400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:103911000-103919000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:103911000-103922000	Weak transcription	Aorta	Aorta
18	chr8:103911200-103915000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:103911200-103915000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:103911200-103915400	Weak transcription	Small Intestine	intestine
21	chr8:103911400-103914800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:103911400-103915000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:103911400-103915000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:103911400-103915000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:103911400-103915000	Weak transcription	HMEC	breast
26	chr8:103911400-103915600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:103911400-103915800	Weak transcription	HSMM	muscle
28	chr8:103911400-103918400	Weak transcription	Hela-S3	cervix
29	chr8:103911400-103922000	Weak transcription	Adipose Nuclei	Adipose
30	chr8:103911400-103922000	Weak transcription	Brain Substantia Nigra	brain
31	chr8:103911400-103922200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:103911400-103922200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:103911600-103915000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:103911600-103915400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:103911600-103915400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:103911600-103915600	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:103911600-103921400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:103911800-103914600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:103911800-103915000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:103911800-103915200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:103911800-103915200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:103911800-103921400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:103911800-103922600	Weak transcription	Left Ventricle	heart
44	chr8:103911800-103922600	Weak transcription	Lung	lung
45	chr8:103912000-103914600	Weak transcription	GM12878-XiMat	blood
46	chr8:103912000-103915400	Weak transcription	Primary T cells from cord blood	blood
47	chr8:103912400-103922600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:103913000-103915400	Weak transcription	HSMMtube	muscle
49	chr8:103913000-103915800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:103913000-103916600	Weak transcription	Fetal Muscle Leg	muscle

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