Variant report

Variant	rs975788
Chromosome Location	chr8:127852347-127852348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:127850550..127853245-chr8:127857411..127860204,2	K562	blood:
2	chr8:127849961..127854048-chr8:127854713..127860204,4	K562	blood:

Variant related genes	Relation type
ENSG00000253438	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10106550	0.93[ASN][1000 genomes]
rs10156279	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10505487	0.91[ASN][1000 genomes]
rs10505488	0.82[ASN][1000 genomes]
rs10505489	0.90[ASN][1000 genomes]
rs10505490	0.96[ASN][1000 genomes]
rs10956330	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956331	0.91[ASN][1000 genomes]
rs10956332	0.87[ASN][1000 genomes]
rs11779539	0.89[ASN][1000 genomes]
rs11986860	0.92[ASN][1000 genomes]
rs11987858	0.85[ASN][1000 genomes]
rs11989801	0.92[ASN][1000 genomes]
rs11992578	0.94[ASN][1000 genomes]
rs12545906	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13248340	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1400462	0.91[ASN][1000 genomes]
rs16901776	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16901778	0.92[ASN][1000 genomes]
rs16901783	0.93[ASN][1000 genomes]
rs16901785	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16901792	0.91[ASN][1000 genomes]
rs1972123	0.91[ASN][1000 genomes]
rs1973699	0.89[ASN][1000 genomes]
rs28409662	0.94[ASN][1000 genomes]
rs28617317	0.92[ASN][1000 genomes]
rs2893579	0.88[ASN][1000 genomes]
rs4870987	0.91[ASN][1000 genomes]
rs4870989	0.90[ASN][1000 genomes]
rs4870990	0.90[ASN][1000 genomes]
rs6984670	0.87[ASN][1000 genomes]
rs6993010	0.92[ASN][1000 genomes]
rs6998093	0.92[ASN][1000 genomes]
rs7816751	0.92[ASN][1000 genomes]
rs7827311	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs7828801	0.91[ASN][1000 genomes]
rs7833497	0.91[ASN][1000 genomes]
rs7839993	0.91[ASN][1000 genomes]
rs7841842	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs979963	0.91[ASN][1000 genomes]
rs979964	0.91[ASN][1000 genomes]
rs979965	0.92[ASN][1000 genomes]
rs979966	0.92[ASN][1000 genomes]
rs986046	0.95[ASN][1000 genomes]
rs9987182	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9987223	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv6382	chr8:127845446-127890549	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs975788	NDUFB9	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127846600-127858200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:127846800-127854000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:127846800-127857200	Weak transcription	Fetal Kidney	kidney
4	chr8:127847000-127854400	Weak transcription	Placenta	Placenta
5	chr8:127847600-127857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:127847600-127860000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:127848000-127852600	Weak transcription	NHLF	lung
8	chr8:127848200-127852600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:127849600-127856600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:127849800-127853200	Enhancers	NHDF-Ad	bronchial
11	chr8:127850000-127853000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:127850600-127852600	Enhancers	Fetal Muscle Leg	muscle
13	chr8:127850600-127853600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:127850600-127856000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:127850800-127853400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:127850800-127853600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:127851000-127853000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:127851200-127852600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:127851400-127852400	Enhancers	HMEC	breast
20	chr8:127851400-127852600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:127851400-127852800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:127851400-127853200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:127851400-127853200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:127851600-127852400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr8:127851600-127852600	Enhancers	Stomach Mucosa	stomach
26	chr8:127851600-127854400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:127851800-127852600	Enhancers	Gastric	stomach
28	chr8:127851800-127853000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:127851800-127853000	Enhancers	NHEK	skin
30	chr8:127852000-127855800	Weak transcription	Adipose Nuclei	Adipose
31	chr8:127852200-127852600	Enhancers	Fetal Heart	heart
32	chr8:127852200-127854000	Weak transcription	Rectal Mucosa Donor 31	rectum

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