Variant report

Variant	rs35840352
Chromosome Location	chr8:10239807-10239808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11249995	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11249996	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11249999	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11250001	0.86[EUR][1000 genomes]
rs11250002	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1133184	0.89[ASN][1000 genomes]
rs11779205	0.92[EUR][1000 genomes]
rs11785061	0.90[EUR][1000 genomes]
rs11989640	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12541491	0.90[EUR][1000 genomes]
rs12543645	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12547997	0.85[EUR][1000 genomes]
rs12548025	0.86[EUR][1000 genomes]
rs12550717	0.83[EUR][1000 genomes]
rs13254942	0.90[EUR][1000 genomes]
rs13264580	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1986972	0.81[EUR][1000 genomes]
rs2001337	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2001338	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34155841	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34381075	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34487437	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35060302	0.81[EUR][1000 genomes]
rs35406700	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35472251	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4240645	0.88[EUR][1000 genomes]
rs4292737	0.81[EUR][1000 genomes]
rs4316191	0.82[EUR][1000 genomes]
rs6999466	0.83[EUR][1000 genomes]
rs7460436	0.88[EUR][1000 genomes]
rs9650650	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv527326	chr8:10199548-10320019	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35840352	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs35840352	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10224000-10255800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:10228600-10247800	Weak transcription	Liver	Liver
4	chr8:10233800-10240000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:10233800-10241400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:10233800-10252400	Weak transcription	Fetal Brain Male	brain
7	chr8:10234000-10241200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:10235200-10252400	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:10235400-10256800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:10235600-10240600	Weak transcription	Fetal Brain Female	brain
11	chr8:10235600-10241600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:10235600-10244000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:10235600-10244400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr8:10235800-10241600	Weak transcription	Right Atrium	heart
15	chr8:10236200-10240000	Weak transcription	Spleen	Spleen
16	chr8:10236200-10247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:10236200-10252600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:10236200-10255800	Weak transcription	Pancreas	Pancrea
19	chr8:10236200-10255800	Weak transcription	Right Ventricle	heart
20	chr8:10236400-10241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:10236800-10241800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:10237200-10247400	Weak transcription	Lung	lung
23	chr8:10239000-10241600	Enhancers	Psoas Muscle	Psoas
24	chr8:10239200-10241800	Enhancers	Primary T cells from cord blood	blood
25	chr8:10239200-10241800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr8:10239600-10242000	Enhancers	Fetal Muscle Leg	muscle
27	chr8:10239800-10240000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr8:10239800-10240400	Enhancers	Left Ventricle	heart
29	chr8:10239800-10242000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:10239800-10242000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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