Variant report

Variant	rs952148
Chromosome Location	chr8:20091519-20091520
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	chr8:20090787..20091644-chr8:20233441..20234008,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1042426	0.81[TSI][hapmap];1.00[YRI][hapmap]
rs1106634	0.95[GIH][hapmap];0.82[JPT][hapmap]
rs12545976	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4921696	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58399138	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6586899	0.95[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv6107	chr8:20056154-20100794	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs952148	TNFRSF10B	cis	cerebellum	SCAN
rs952148	IRF9	trans	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20079400-20093800	Weak transcription	Right Ventricle	heart
2	chr8:20083800-20091600	Weak transcription	Thymus	Thymus
3	chr8:20083800-20095600	Weak transcription	Pancreas	Pancrea
4	chr8:20084600-20093400	Weak transcription	Spleen	Spleen
5	chr8:20086400-20091800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:20089400-20092000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:20089400-20092600	Weak transcription	Fetal Kidney	kidney
8	chr8:20089400-20093000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:20089600-20091600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr8:20089800-20092600	Weak transcription	Fetal Lung	lung
11	chr8:20089800-20093200	Enhancers	Dnd41	blood
12	chr8:20089800-20093600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:20089800-20096400	Weak transcription	Right Atrium	heart
14	chr8:20090000-20091600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:20090000-20092000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:20090000-20103800	Weak transcription	HSMM	muscle
17	chr8:20090200-20093400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:20090200-20102800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:20090600-20092000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:20090800-20091800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr8:20090800-20092000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
22	chr8:20091000-20091600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:20091000-20091600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr8:20091000-20091800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr8:20091000-20091800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr8:20091000-20092000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr8:20091000-20092000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:20091000-20092600	Enhancers	HSMMtube	muscle
29	chr8:20091000-20093200	Enhancers	Fetal Brain Female	brain
30	chr8:20091000-20094800	Enhancers	Fetal Thymus	thymus
31	chr8:20091200-20091600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:20091200-20091600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr8:20091200-20091800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr8:20091200-20092200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
35	chr8:20091200-20093200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:20091200-20103800	Weak transcription	NHLF	lung
37	chr8:20091400-20093800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:20091400-20094800	Bivalent Enhancer	Fetal Muscle Leg	muscle

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