Variant report

Variant	rs59428574
Chromosome Location	chr8:124166061-124166062
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:124164274..124174107-chr8:124177179..124181294,15	K562	blood:
2	chr8:123684547..123688110-chr8:124165603..124168648,4	MCF-7	breast:
3	chr8:124164093..124166730-chr8:124166836..124169450,2	MCF-7	breast:
4	chr8:124165080..124167833-chr8:124169461..124172051,4	K562	blood:
5	chr8:124099011..124101622-chr8:124164146..124166332,2	K562	blood:
6	chr8:124164381..124166664-chr8:124173510..124175947,2	K562	blood:
7	chr8:124166020..124168823-chr8:124193336..124196085,3	MCF-7	breast:
8	chr8:124053418..124056090-chr8:124165427..124167944,2	K562	blood:
9	chr8:124045660..124048349-chr8:124165021..124167083,2	K562	blood:
10	chr8:123746077..123748094-chr8:124165857..124168828,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147689	Chromatin interaction
ENSG00000136986	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000156787	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10096350	0.81[EUR][1000 genomes]
rs10111810	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16898043	0.93[EUR][1000 genomes]
rs17315999	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17316158	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17323510	0.81[EUR][1000 genomes]
rs4282551	0.81[EUR][1000 genomes]
rs4377946	0.81[EUR][1000 genomes]
rs57165742	0.81[EUR][1000 genomes]
rs58189203	0.81[EUR][1000 genomes]
rs59229243	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62521797	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62521799	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62521801	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62521803	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62521805	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62521806	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62521807	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62521808	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62521826	0.81[EUR][1000 genomes]
rs6983795	0.81[EUR][1000 genomes]
rs6988636	0.81[EUR][1000 genomes]
rs7002021	0.81[EUR][1000 genomes]
rs7002332	0.81[EUR][1000 genomes]
rs73339621	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73339623	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73339626	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73339658	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv429939	chr8:124027819-124180819	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1028933	chr8:124065484-124181718	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124086000-124168800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:124086000-124169000	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:124086200-124168800	Weak transcription	Esophagus	oesophagus
4	chr8:124086600-124168800	Weak transcription	Lung	lung
5	chr8:124096200-124168800	Weak transcription	Liver	Liver
6	chr8:124097400-124166800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:124098400-124166600	Weak transcription	Gastric	stomach
8	chr8:124099000-124166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:124107400-124166800	Weak transcription	Pancreas	Pancrea
10	chr8:124109000-124169000	Weak transcription	Fetal Heart	heart
11	chr8:124111400-124168800	Weak transcription	Brain Germinal Matrix	brain
12	chr8:124112200-124168800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:124112600-124168800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:124113600-124169000	Weak transcription	Hela-S3	cervix
15	chr8:124114400-124168800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:124114400-124168800	Weak transcription	Fetal Brain Female	brain
17	chr8:124116400-124168800	Weak transcription	Ovary	ovary
18	chr8:124127200-124168800	Weak transcription	Brain Substantia Nigra	brain
19	chr8:124129000-124168800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:124129000-124169000	Weak transcription	Small Intestine	intestine
21	chr8:124132800-124168800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:124134200-124168800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:124137800-124168800	Weak transcription	Colonic Mucosa	Colon
24	chr8:124140400-124168800	Weak transcription	Right Ventricle	heart
25	chr8:124141000-124168800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:124142600-124168800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:124145600-124168800	Weak transcription	Fetal Brain Male	brain
28	chr8:124146800-124167000	Weak transcription	Brain Anterior Caudate	brain
29	chr8:124147800-124166800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:124147800-124168800	Weak transcription	Spleen	Spleen
31	chr8:124150200-124168600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:124152000-124167200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:124152200-124168800	Weak transcription	Fetal Kidney	kidney
34	chr8:124152200-124169400	Weak transcription	HSMMtube	muscle
35	chr8:124152600-124166200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:124152600-124166800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr8:124152800-124168800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:124153600-124169000	Weak transcription	HSMM	muscle
39	chr8:124153800-124168600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:124154000-124168800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:124154800-124168800	Weak transcription	HepG2	liver
42	chr8:124155000-124169000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:124155600-124167400	Weak transcription	NHLF	lung
44	chr8:124156000-124168600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:124156000-124168800	Weak transcription	HUVEC	blood vessel
46	chr8:124156200-124168800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr8:124156200-124169000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:124156200-124169000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:124157600-124169000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:124157600-124169000	Weak transcription	Left Ventricle	heart

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