Variant report

Variant	rs977308
Chromosome Location	chr8:130473200-130473201
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:130473054..130475736-chr8:130477824..130480039,2	K562	blood:
2	chr8:130472835..130474736-chr8:130481609..130484413,2	K562	blood:
3	chr8:130473054..130475813-chr8:130477824..130479965,3	K562	blood:
4	chr8:130466558..130470190-chr8:130470932..130474396,4	K562	blood:
5	chr8:130443086..130445932-chr8:130472163..130473857,2	MCF-7	breast:
6	chr8:130472152..130474277-chr8:130474524..130477153,2	MCF-7	breast:
7	chr8:130463322..130466804-chr8:130473074..130475467,3	MCF-7	breast:
8	chr8:130471335..130473614-chr8:130473626..130476000,2	K562	blood:
9	chr8:130468131..130470642-chr8:130472896..130474611,2	K562	blood:

No data

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10464870	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956481	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11993877	0.89[JPT][hapmap];0.81[AMR][1000 genomes]
rs12543365	0.83[AMR][1000 genomes]
rs7844097	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][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	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130470400-130473400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:130470400-130473400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:130471200-130473200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:130471200-130473400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:130471400-130473200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr8:130471400-130473200	Enhancers	Dnd41	blood
7	chr8:130471400-130473200	Enhancers	NHDF-Ad	bronchial
8	chr8:130471400-130473800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:130471600-130473400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:130471600-130473400	Enhancers	Fetal Thymus	thymus
11	chr8:130471600-130473600	Enhancers	Colon Smooth Muscle	Colon
12	chr8:130471800-130473200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:130471800-130473400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:130471800-130473400	Enhancers	Thymus	Thymus
15	chr8:130471800-130473600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr8:130472000-130473400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:130472000-130474000	Enhancers	K562	blood
18	chr8:130472200-130473200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:130472200-130473400	Enhancers	Fetal Brain Male	brain
20	chr8:130472200-130474200	Enhancers	Brain Germinal Matrix	brain
21	chr8:130472400-130473400	Enhancers	HSMM	muscle
22	chr8:130472400-130475000	Weak transcription	A549	lung
23	chr8:130472600-130473200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr8:130472800-130473200	Enhancers	HSMMtube	muscle
25	chr8:130473000-130474400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:130473000-130474800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:130473200-130478000	Weak transcription	Dnd41	blood

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