Variant report

Variant	rs11989880
Chromosome Location	chr8:129872982-129872983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:129872569..129876540-chr8:129878616..129881184,3	K562	blood:
2	chr8:128813410..128816212-chr8:129870107..129873143,3	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1157136	0.90[AFR][1000 genomes]
rs11780321	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11781488	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11783808	0.97[AFR][1000 genomes]
rs11991292	0.94[AFR][1000 genomes]
rs16903635	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17818346	0.91[EUR][1000 genomes]
rs17818958	0.93[AFR][1000 genomes]
rs17819888	0.97[ASN][1000 genomes]
rs1879163	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1879164	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2139456	0.85[AFR][1000 genomes]
rs4645529	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55788778	0.89[EUR][1000 genomes]
rs58858133	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59067049	0.82[AFR][1000 genomes]
rs6996393	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72726589	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72726590	0.93[AFR][1000 genomes]
rs72726600	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7828412	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9643240	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11989880	HHLA1	cis	parietal	SCAN
rs11989880	PHF20L1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129864200-129873200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:129864200-129873200	Weak transcription	NH-A	brain
3	chr8:129864400-129873400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:129866600-129873200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:129867200-129873200	Weak transcription	Osteobl	bone
6	chr8:129868000-129873000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:129869200-129873000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:129871600-129873600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:129871600-129875400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:129871800-129873600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:129872000-129877000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:129872400-129873200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:129872600-129873200	Enhancers	NHEK	skin
14	chr8:129872600-129873400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:129872600-129873400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:129872600-129873600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:129872600-129875800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:129872600-129875800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:129872600-129877200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:129872800-129873000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:129872800-129873200	Enhancers	NHDF-Ad	bronchial
22	chr8:129872800-129873200	Enhancers	NHLF	lung
23	chr8:129872800-129873600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:129872800-129873600	Enhancers	Fetal Stomach	stomach
25	chr8:129872800-129875600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:129872800-129875600	Enhancers	HUES6 Cell Line	embryonic stem cell

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