Variant report

Variant	rs10104995
Chromosome Location	chr8:103901234-103901235
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	chr8:103873381..103878542-chr8:103897806..103904719,11	MCF-7	breast:
2	chr8:103899452..103902354-chr8:103915112..103918402,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10955294	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776547	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993347	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1806300	0.88[AFR][1000 genomes]
rs2458280	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2513875	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2570947	0.81[AFR][1000 genomes]
rs2570949	0.97[EUR][1000 genomes]
rs2570950	0.81[AFR][1000 genomes]
rs28594922	0.81[ASN][1000 genomes]
rs2916561	0.81[AFR][1000 genomes]
rs35656046	0.88[AFR][1000 genomes]
rs548488	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs581610	0.85[AFR][1000 genomes]
rs601088	0.88[AFR][1000 genomes]
rs642004	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs665298	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs678839	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
rs10104995	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103877000-103906800	Weak transcription	Gastric	stomach
2	chr8:103877800-103902000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:103877800-103906400	Weak transcription	HSMMtube	muscle
4	chr8:103878000-103906400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:103878000-103908800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:103878200-103906600	Weak transcription	Ovary	ovary
7	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:103882800-103906600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:103889800-103906200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:103889800-103906400	Weak transcription	Brain Substantia Nigra	brain
11	chr8:103890000-103906400	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:103890000-103906600	Weak transcription	Brain Anterior Caudate	brain
13	chr8:103890000-103906600	Weak transcription	Right Ventricle	heart
14	chr8:103890200-103906400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:103891000-103906600	Weak transcription	Liver	Liver
16	chr8:103891800-103907200	Weak transcription	Brain Germinal Matrix	brain
17	chr8:103893200-103902200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:103893600-103906800	Weak transcription	Left Ventricle	heart
19	chr8:103893600-103906800	Weak transcription	Pancreas	Pancrea
20	chr8:103894000-103906400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:103894000-103906600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:103894200-103906000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:103894200-103906200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:103894200-103906600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:103894200-103914600	Weak transcription	Fetal Lung	lung
26	chr8:103894800-103902200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:103896000-103906200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:103896000-103906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:103896400-103911200	Weak transcription	Primary T cells from cord blood	blood
30	chr8:103897600-103906600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:103898000-103902000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:103898200-103906600	Weak transcription	Adipose Nuclei	Adipose
33	chr8:103898200-103906800	Weak transcription	Fetal Brain Female	brain
34	chr8:103898200-103906800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:103898400-103906200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:103899200-103906800	Weak transcription	Spleen	Spleen
37	chr8:103899400-103901400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:103899400-103906800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:103899600-103902000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:103899600-103904000	Weak transcription	Placenta	Placenta
41	chr8:103899600-103905200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:103899600-103906400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:103899600-103906600	Weak transcription	Fetal Stomach	stomach
44	chr8:103899600-103906800	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:103899600-103910200	Weak transcription	Thymus	Thymus
46	chr8:103899800-103906400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:103900000-103902000	Enhancers	GM12878-XiMat	blood
48	chr8:103900000-103902200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr8:103900000-103906200	Weak transcription	Fetal Thymus	thymus
50	chr8:103900800-103901400	Weak transcription	Duodenum Mucosa	Duodenum

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