Variant report

Variant	rs12550717
Chromosome Location	chr8:10266706-10266707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11249995	0.82[EUR][1000 genomes]
rs11249996	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11249999	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11250001	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11250002	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11779205	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11785061	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11989640	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12541491	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12543645	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12547997	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12548025	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13254942	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13258627	0.81[AMR][1000 genomes]
rs13264580	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17767186	0.88[AFR][1000 genomes]
rs1986972	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2001337	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2001338	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34155841	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34381075	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34487437	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35060302	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35112858	0.86[AFR][1000 genomes]
rs35406700	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35472251	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35840352	0.83[EUR][1000 genomes]
rs4240645	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4292737	0.81[AMR][1000 genomes]
rs4316191	0.81[AMR][1000 genomes]
rs6999466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7460436	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9650650	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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
8	nsv465460	chr8:10241411-10290566	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv610265	chr8:10241411-10290566	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv610266	chr8:10250758-10294330	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv1019701	chr8:10254709-10279269	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv890348	chr8:10265712-10289663	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12550717	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs12550717	BLK	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10192600-10282400	Weak transcription	Gastric	stomach
2	chr8:10249000-10275200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:10255200-10267800	Weak transcription	Primary T cells from cord blood	blood
4	chr8:10256000-10267600	Weak transcription	Brain Angular Gyrus	brain
5	chr8:10257000-10267600	Weak transcription	Right Ventricle	heart
6	chr8:10257000-10274400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:10257600-10267000	Weak transcription	Right Atrium	heart
8	chr8:10258200-10267800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:10258200-10274400	Weak transcription	Esophagus	oesophagus
10	chr8:10261200-10273000	Weak transcription	Primary B cells from cord blood	blood
11	chr8:10261400-10268600	Weak transcription	Brain Anterior Caudate	brain
12	chr8:10261800-10274400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:10262000-10275200	Weak transcription	Psoas Muscle	Psoas
14	chr8:10262200-10267200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:10262400-10266800	Weak transcription	Brain Germinal Matrix	brain
16	chr8:10262800-10268000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:10263000-10268400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:10263200-10271800	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:10263400-10267000	Weak transcription	HSMMtube	muscle
20	chr8:10263400-10268600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:10263600-10267000	Weak transcription	Fetal Brain Female	brain
22	chr8:10263600-10267800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:10263600-10275200	Weak transcription	Pancreas	Pancrea
24	chr8:10263600-10283400	Weak transcription	Fetal Intestine Small	intestine
25	chr8:10263800-10267200	Weak transcription	Fetal Brain Male	brain
26	chr8:10263800-10269800	Weak transcription	Spleen	Spleen
27	chr8:10264200-10267800	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:10264600-10268800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr8:10265000-10270200	Weak transcription	Liver	Liver
30	chr8:10265800-10267000	Weak transcription	Left Ventricle	heart
31	chr8:10265800-10267600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:10266400-10268800	Enhancers	Fetal Heart	heart

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