Variant report

Variant	rs57061880
Chromosome Location	chr8:105544719-105544720
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105543820..105546530-chr8:105760722..105763113,2	K562	blood:
2	chr8:105544664..105547366-chr8:105749781..105751384,2	MCF-7	breast:
3	chr8:105543714..105545305-chr8:105608007..105609799,2	K562	blood:
4	chr8:105541937..105546028-chr8:105546808..105551808,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs35163714	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4427139	1.00[AMR][1000 genomes]
rs57149580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59042845	1.00[AMR][1000 genomes]
rs59429525	1.00[AMR][1000 genomes]
rs60616186	1.00[AMR][1000 genomes]
rs61129183	0.87[AFR][1000 genomes]
rs61148214	1.00[AMR][1000 genomes]
rs61360760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293276	0.90[AFR][1000 genomes]
rs73293278	0.84[AFR][1000 genomes]
rs73293290	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293292	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293298	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295103	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295113	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295116	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295133	0.87[AFR][1000 genomes]
rs73295148	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295155	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295157	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295168	1.00[AMR][1000 genomes]
rs73295174	1.00[AMR][1000 genomes]
rs73295188	1.00[AMR][1000 genomes]
rs73297103	1.00[AMR][1000 genomes]
rs73297116	1.00[AMR][1000 genomes]
rs73297130	1.00[AMR][1000 genomes]
rs73297134	1.00[AMR][1000 genomes]
rs73297137	1.00[AMR][1000 genomes]
rs73297149	1.00[AMR][1000 genomes]
rs7812405	0.87[AFR][1000 genomes]
rs7813481	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7832864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105510200-105546200	Weak transcription	HMEC	breast
2	chr8:105511800-105550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:105512800-105550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:105527800-105549600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:105533200-105551400	Weak transcription	HSMM	muscle
7	chr8:105534800-105549400	Weak transcription	Osteobl	bone
8	chr8:105535600-105550200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:105536200-105549600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr8:105539600-105545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:105540000-105562000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:105540600-105544800	Weak transcription	Fetal Thymus	thymus
13	chr8:105541000-105548800	Weak transcription	Brain Germinal Matrix	brain
14	chr8:105541000-105549400	Weak transcription	Right Ventricle	heart
15	chr8:105541600-105544800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:105541600-105544800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:105542000-105549600	Weak transcription	Dnd41	blood
18	chr8:105542400-105545200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:105542600-105545200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:105542600-105546200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr8:105542800-105558600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:105542800-105565400	Weak transcription	Left Ventricle	heart
23	chr8:105543000-105545000	Enhancers	Primary hematopoietic stem cells	blood
24	chr8:105543000-105545000	Weak transcription	Psoas Muscle	Psoas
25	chr8:105543200-105545000	Weak transcription	Right Atrium	heart
26	chr8:105543400-105544800	Weak transcription	K562	blood
27	chr8:105543600-105545400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr8:105544200-105545000	Enhancers	GM12878-XiMat	blood
29	chr8:105544400-105545000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:105544400-105545000	Enhancers	Brain Hippocampus Middle	brain
31	chr8:105544400-105545200	Enhancers	Fetal Heart	heart
32	chr8:105544600-105545200	Enhancers	Brain Anterior Caudate	brain

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