Variant report

Variant	rs5013669
Chromosome Location	chr8:105540594-105540595
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:105525948..105528656-chr8:105538770..105541128,2	K562	blood:
2	chr8:105539636..105541250-chr8:105546259..105548784,2	K562	blood:
3	chr8:105533738..105535742-chr8:105540260..105542167,2	MCF-7	breast:
4	chr8:105539636..105541987-chr8:105546259..105549133,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3018437	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4291236	1.00[AFR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:105510200-105546200	Weak transcription	HMEC	breast
3	chr8:105511800-105550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:105512800-105542000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:105512800-105550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:105515200-105542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:105527200-105543000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:105527800-105549600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:105530200-105542600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:105531400-105544600	Weak transcription	Brain Anterior Caudate	brain
12	chr8:105531600-105542200	Weak transcription	Thymus	Thymus
13	chr8:105533200-105551400	Weak transcription	HSMM	muscle
14	chr8:105534800-105544400	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:105534800-105549400	Weak transcription	Osteobl	bone
16	chr8:105535200-105544200	Weak transcription	Ovary	ovary
17	chr8:105535600-105550200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:105535800-105541800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:105535800-105542400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:105535800-105542600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:105536200-105541000	Weak transcription	A549	lung
22	chr8:105536200-105549600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:105536800-105541800	Weak transcription	K562	blood
24	chr8:105539600-105541800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:105539600-105545600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:105540000-105540600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:105540000-105540600	Strong transcription	Fetal Thymus	thymus
28	chr8:105540000-105540800	ZNF genes & repeats	Dnd41	blood
29	chr8:105540000-105541000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr8:105540000-105541000	Strong transcription	Brain Germinal Matrix	brain
31	chr8:105540000-105541600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:105540000-105562000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:105540200-105540800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:105540400-105540600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr8:105540400-105540800	Enhancers	Left Ventricle	heart
36	chr8:105540400-105542600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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