Variant report

Variant	rs73684344
Chromosome Location	chr8:59466228-59466229
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:59464567..59467546-chr8:59474944..59480287,7	MCF-7	breast:
2	chr6:27777586..27778098-chr8:59465562..59466320,2	Hela-S3	cervix:
3	chr3:156534565..156535126-chr8:59465749..59466339,2	Hela-S3	cervix:
4	chr8:59466189..59470274-chr8:59507050..59509287,3	MCF-7	breast:
5	chr8:59464966..59467045-chr8:59571709..59574474,2	MCF-7	breast:
6	chr8:59465084..59467484-chr8:59482976..59485277,2	MCF-7	breast:
7	chr8:59432563..59435157-chr8:59465876..59468131,3	K562	blood:
8	chr1:67895545..67896118-chr8:59465899..59466778,2	Hela-S3	cervix:
9	chr8:59465077..59468758-chr8:59483246..59485751,3	MCF-7	breast:
10	chr17:56736277..56737102-chr8:59465758..59466388,2	NB4	blood:
11	chr8:59464841..59467426-chr8:59569762..59573398,4	MCF-7	breast:
12	chr8:59401980..59404100-chr8:59465890..59467513,2	K562	blood:
13	chr12:54069326..54070224-chr8:59465767..59466702,2	Hela-S3	cervix:
14	chr8:59417943..59419729-chr8:59466208..59468213,2	K562	blood:
15	chr8:59463736..59468207-chr8:59482369..59488045,4	K562	blood:
16	chr8:59464704..59467459-chr8:59489336..59490887,2	MCF-7	breast:
17	chr8:59464523..59466345-chr8:59503286..59506269,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203813	Chromatin interaction
ENSG00000137575	Chromatin interaction
ENSG00000240875	Chromatin interaction
ENSG00000035681	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000135390	Chromatin interaction
ENSG00000142864	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16923372	1.00[EUR][1000 genomes]
rs16923635	1.00[EUR][1000 genomes]
rs16923636	1.00[EUR][1000 genomes]
rs58772222	1.00[EUR][1000 genomes]
rs60621064	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60917057	1.00[EUR][1000 genomes]
rs6471741	1.00[EUR][1000 genomes]
rs73250352	1.00[EUR][1000 genomes]
rs73683548	1.00[EUR][1000 genomes]
rs73683573	1.00[EUR][1000 genomes]
rs73684310	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73684340	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73684343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73684348	1.00[EUR][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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59464600-59468200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:59464800-59467200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:59464800-59468600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:59465000-59467000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr8:59465000-59467000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr8:59465000-59467000	Active TSS	Primary T cells from cord blood	blood
7	chr8:59465000-59467000	Active TSS	Brain Cingulate Gyrus	brain
8	chr8:59465000-59467000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:59465000-59467000	Active TSS	Brain Substantia Nigra	brain
10	chr8:59465000-59467000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:59465000-59467200	Active TSS	Brain Angular Gyrus	brain
12	chr8:59465000-59467200	Active TSS	Fetal Lung	lung
13	chr8:59465000-59467200	Active TSS	Fetal Stomach	stomach
14	chr8:59465000-59467200	Active TSS	NH-A	brain
15	chr8:59465000-59467400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr8:59465000-59467400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:59465000-59467400	Active TSS	Rectal Smooth Muscle	rectum
18	chr8:59465000-59467400	Active TSS	HSMMtube	muscle
19	chr8:59465000-59467600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr8:59465000-59467600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:59465000-59467600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:59465000-59467600	Active TSS	K562	blood
23	chr8:59465000-59467800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:59465000-59467800	Active TSS	Fetal Brain Male	brain
25	chr8:59465000-59468000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr8:59465000-59468000	Active TSS	Fetal Kidney	kidney
27	chr8:59465000-59468200	Active TSS	Brain Anterior Caudate	brain
28	chr8:59465000-59468200	Active TSS	Right Ventricle	heart
29	chr8:59465000-59468400	Active TSS	Right Atrium	heart
30	chr8:59465000-59468400	Active TSS	NHLF	lung
31	chr8:59465000-59469200	Active TSS	Fetal Brain Female	brain
32	chr8:59465000-59472200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:59465200-59466400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:59465200-59466400	Active TSS	Gastric	stomach
35	chr8:59465200-59466600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:59465200-59466600	Active TSS	Esophagus	oesophagus
37	chr8:59465200-59466600	Active TSS	Lung	lung
38	chr8:59465200-59466600	Active TSS	Spleen	Spleen
39	chr8:59465200-59466800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:59465200-59466800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:59465200-59466800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:59465200-59466800	Active TSS	Aorta	Aorta
43	chr8:59465200-59466800	Active TSS	Left Ventricle	heart
44	chr8:59465200-59466800	Active TSS	Ovary	ovary
45	chr8:59465200-59467000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:59465200-59467200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr8:59465200-59467200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:59465200-59467400	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr8:59465200-59467600	Active TSS	Hela-S3	cervix
50	chr8:59465200-59467600	Active TSS	NHDF-Ad	bronchial

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