Variant report

Variant	rs2139456
Chromosome Location	chr8:129865096-129865097
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1157136	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11783808	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11786024	0.82[ASN][1000 genomes]
rs11989880	0.85[AFR][1000 genomes]
rs11991292	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17818958	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3857888	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4645529	0.80[AFR][1000 genomes]
rs58858133	0.81[ASN][1000 genomes]
rs59067049	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6996393	0.81[ASN][1000 genomes]
rs72726590	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612220	chr8:129859924-129866274	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv517445	chr8:129859924-129881299	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129858600-129868800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:129860000-129867000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:129861200-129867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:129862800-129865600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:129862800-129866200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:129862800-129866600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:129863000-129866600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:129863200-129866400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:129863200-129866800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:129863200-129866800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:129863600-129866200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:129864000-129866800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:129864200-129866400	Weak transcription	Dnd41	blood
14	chr8:129864200-129866600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:129864200-129866800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:129864200-129873200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:129864200-129873200	Weak transcription	NH-A	brain
18	chr8:129864400-129866200	Weak transcription	NHDF-Ad	bronchial
19	chr8:129864400-129866600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:129864400-129866600	Weak transcription	Osteobl	bone
21	chr8:129864400-129873400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:129864600-129866400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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