Variant report

Variant	rs677406
Chromosome Location	chr8:103934176-103934177
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RPC155	chr8:103933852-103934306	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr8:103934087-103934428	Hela-S3	cervix:	n/a	n/a
3	GTF3C2	chr8:103933870-103934432	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr8:103934053-103934399	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103875028..103877482-chr8:103931087..103934755,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	TF binding region
ENSG00000253320	Chromatin interaction
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11990382	0.87[AFR][1000 genomes]
rs17776569	0.82[ASN][1000 genomes]
rs17776600	0.81[ASN][1000 genomes]
rs1806300	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34157576	0.82[ASN][1000 genomes]
rs35656046	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs529802	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs571241	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs581610	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs601088	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs622072	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs682651	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs685459	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs688791	0.88[AMR][1000 genomes];0.88[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	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs677406	AZIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103923200-103935800	Weak transcription	Fetal Lung	lung
2	chr8:103926400-103937400	Weak transcription	Lung	lung
3	chr8:103926600-103936600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:103927800-103939800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:103927800-103941600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:103929200-103934800	Enhancers	Liver	Liver
7	chr8:103929400-103934600	Enhancers	Adipose Nuclei	Adipose
8	chr8:103929600-103934600	Enhancers	Duodenum Mucosa	Duodenum
9	chr8:103929800-103934200	Enhancers	Hela-S3	cervix
10	chr8:103930000-103938000	Weak transcription	Gastric	stomach
11	chr8:103931000-103935000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:103931200-103936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:103931400-103936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:103931800-103937000	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:103931800-103941600	Weak transcription	Fetal Kidney	kidney
16	chr8:103932000-103934200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:103932000-103936800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:103932000-103937200	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:103932000-103939400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:103932200-103936000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
22	chr8:103932400-103937000	Weak transcription	Aorta	Aorta
23	chr8:103932400-103937200	Weak transcription	Placenta	Placenta
24	chr8:103932400-103939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:103932600-103937200	Weak transcription	Small Intestine	intestine
26	chr8:103932800-103934600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:103932800-103937200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:103932800-103937400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:103932800-103938800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:103932800-103939400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:103932800-103939600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:103933000-103936200	Weak transcription	Fetal Stomach	stomach
33	chr8:103933000-103936600	Weak transcription	GM12878-XiMat	blood
34	chr8:103933000-103937200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr8:103933000-103937200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:103933000-103937200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:103933000-103937200	Weak transcription	Right Atrium	heart
38	chr8:103933000-103937400	Weak transcription	Pancreas	Pancrea
39	chr8:103933000-103939800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr8:103933200-103937000	Weak transcription	Fetal Intestine Large	intestine
41	chr8:103933200-103937000	Weak transcription	Ovary	ovary
42	chr8:103933200-103937200	Weak transcription	Right Ventricle	heart
43	chr8:103933400-103935800	Weak transcription	A549	lung
44	chr8:103933400-103935800	Weak transcription	NHLF	lung
45	chr8:103933400-103936600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:103933400-103937000	Weak transcription	Fetal Intestine Small	intestine
47	chr8:103933400-103937000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:103933400-103937200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:103933400-103937200	Weak transcription	Stomach Mucosa	stomach
50	chr8:103933400-103940000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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