Variant report

Variant	rs12547578
Chromosome Location	chr8:125733800-125733801
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125732364..125734390-chr8:125826562..125828252,2	K562	blood:
2	chr8:125731376..125734284-chr8:125972311..125974487,2	MCF-7	breast:
3	chr8:125732102..125734063-chr8:125734203..125736035,2	K562	blood:
4	chr8:125687873..125690261-chr8:125731665..125733961,2	MCF-7	breast:
5	chr8:125732551..125735528-chr8:125743147..125745603,2	K562	blood:
6	chr8:125609951..125612299-chr8:125732726..125735417,2	MCF-7	breast:
7	chr2:221510964..221511749-chr8:125733075..125733823,2	MCF-7	breast:
8	chr8:125723773..125726470-chr8:125730647..125734665,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1430850	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430852	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430853	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978661	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288665	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4870919	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870920	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470261	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470262	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470263	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993178	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs729513	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824588	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833290	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842864	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878684	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs891541	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv612147	chr8:125733120-125751065	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125723200-125737200	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:125723600-125737200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125724600-125738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:125724800-125737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:125725600-125735200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr8:125726800-125734000	Weak transcription	Fetal Thymus	thymus
7	chr8:125728000-125734800	Enhancers	Fetal Muscle Leg	muscle
8	chr8:125728400-125734800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:125728800-125736400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:125730000-125735000	Enhancers	Right Ventricle	heart
11	chr8:125730000-125735600	Enhancers	Spleen	Spleen
12	chr8:125730000-125737600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:125730200-125737000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr8:125730200-125737600	Enhancers	Fetal Heart	heart
15	chr8:125730800-125734000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:125731000-125734000	Weak transcription	Fetal Brain Female	brain
17	chr8:125731000-125734600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:125731000-125738200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:125731200-125736000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:125731400-125734600	Enhancers	Brain Germinal Matrix	brain
21	chr8:125731400-125735200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:125731400-125738200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:125731400-125738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:125731600-125734000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:125731600-125735200	Enhancers	Pancreas	Pancrea
26	chr8:125731800-125733800	Weak transcription	Fetal Brain Male	brain
27	chr8:125732000-125733800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:125732000-125733800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr8:125732200-125734200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr8:125732200-125735400	Enhancers	HUVEC	blood vessel
31	chr8:125732200-125735600	Enhancers	Fetal Intestine Small	intestine
32	chr8:125732400-125734600	Enhancers	Placenta	Placenta
33	chr8:125732400-125734800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:125732400-125734800	Enhancers	Gastric	stomach
35	chr8:125732800-125733800	Weak transcription	Esophagus	oesophagus
36	chr8:125732800-125733800	Weak transcription	Left Ventricle	heart
37	chr8:125732800-125734000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr8:125732800-125734000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr8:125732800-125734200	Weak transcription	Fetal Lung	lung
40	chr8:125732800-125736000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:125733000-125734000	Weak transcription	Adipose Nuclei	Adipose
42	chr8:125733000-125734000	Weak transcription	Brain Anterior Caudate	brain
43	chr8:125733000-125735800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:125733000-125738800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:125733200-125734200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:125733200-125734600	Weak transcription	Primary T cells from cord blood	blood
47	chr8:125733200-125734800	Weak transcription	Brain Hippocampus Middle	brain
48	chr8:125733200-125735800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:125733200-125737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:125733200-125738400	Weak transcription	K562	blood

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