Variant report

Variant	rs11249975
Chromosome Location	chr8:10075698-10075699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10087391	1.00[ASN][1000 genomes]
rs10089339	1.00[ASN][1000 genomes]
rs10090440	1.00[ASN][1000 genomes]
rs10097184	1.00[ASN][1000 genomes]
rs10111917	1.00[ASN][1000 genomes]
rs10112446	1.00[ASN][1000 genomes]
rs10903321	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11774276	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776035	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776973	1.00[ASN][1000 genomes]
rs11780122	1.00[ASN][1000 genomes]
rs11783705	1.00[ASN][1000 genomes]
rs12156030	1.00[ASN][1000 genomes]
rs12156387	1.00[ASN][1000 genomes]
rs12678938	1.00[ASN][1000 genomes]
rs13258409	1.00[ASN][1000 genomes]
rs13263482	1.00[ASN][1000 genomes]
rs13263803	1.00[ASN][1000 genomes]
rs13275453	1.00[ASN][1000 genomes]
rs17151658	1.00[ASN][1000 genomes]
rs17151667	1.00[ASN][1000 genomes]
rs17151675	1.00[ASN][1000 genomes]
rs17151684	1.00[ASN][1000 genomes]
rs17151697	1.00[ASN][1000 genomes]
rs17151699	1.00[ASN][1000 genomes]
rs17151713	1.00[ASN][1000 genomes]
rs17151728	1.00[ASN][1000 genomes]
rs17151741	1.00[ASN][1000 genomes]
rs17151745	1.00[ASN][1000 genomes]
rs17151748	1.00[ASN][1000 genomes]
rs17151763	1.00[ASN][1000 genomes]
rs17693945	1.00[ASN][1000 genomes]
rs17694485	1.00[ASN][1000 genomes]
rs17707665	1.00[ASN][1000 genomes]
rs17708090	1.00[ASN][1000 genomes]
rs17708114	1.00[ASN][1000 genomes]
rs17750324	1.00[ASN][1000 genomes]
rs17751178	1.00[ASN][1000 genomes]
rs1976071	1.00[ASN][1000 genomes]
rs28507813	1.00[ASN][1000 genomes]
rs28587507	1.00[ASN][1000 genomes]
rs28611339	1.00[ASN][1000 genomes]
rs28870492	1.00[ASN][1000 genomes]
rs34487797	1.00[ASN][1000 genomes]
rs34919878	1.00[ASN][1000 genomes]
rs35013996	1.00[ASN][1000 genomes]
rs35114037	1.00[ASN][1000 genomes]
rs35437983	1.00[ASN][1000 genomes]
rs4240640	1.00[ASN][1000 genomes]
rs4394398	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840467	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840476	1.00[ASN][1000 genomes]
rs4841294	1.00[ASN][1000 genomes]
rs4841295	1.00[ASN][1000 genomes]
rs4841312	1.00[ASN][1000 genomes]
rs55968335	1.00[ASN][1000 genomes]
rs56408109	1.00[ASN][1000 genomes]
rs59119294	1.00[ASN][1000 genomes]
rs66666973	1.00[ASN][1000 genomes]
rs67773656	1.00[ASN][1000 genomes]
rs6994060	1.00[ASN][1000 genomes]
rs6997224	1.00[ASN][1000 genomes]
rs7014570	1.00[ASN][1000 genomes]
rs7017349	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73193549	1.00[ASN][1000 genomes]
rs7822745	1.00[ASN][1000 genomes]
rs7834714	1.00[ASN][1000 genomes]
rs7835507	1.00[ASN][1000 genomes]
rs7835960	1.00[ASN][1000 genomes]
rs7840347	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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
7	nsv890345	chr8:10068073-10093228	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv890346	chr8:10075373-10103435	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11249975	BLK	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10053800-10087000	Weak transcription	Spleen	Spleen
2	chr8:10055400-10078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:10055600-10086200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:10058400-10077600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:10058400-10086200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:10060200-10103000	Weak transcription	Gastric	stomach
7	chr8:10062600-10078200	Weak transcription	Pancreas	Pancrea
8	chr8:10062600-10078400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:10062800-10078200	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:10064400-10086000	Weak transcription	Brain Anterior Caudate	brain
11	chr8:10064800-10079600	Weak transcription	Primary B cells from cord blood	blood
12	chr8:10065200-10078400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:10068000-10079400	Weak transcription	Ovary	ovary
14	chr8:10068200-10081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:10072000-10078200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:10072400-10078000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:10072600-10076200	Weak transcription	Fetal Brain Female	brain
18	chr8:10072600-10077400	Weak transcription	NHDF-Ad	bronchial
19	chr8:10072600-10077600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:10073000-10089600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:10073200-10076200	Weak transcription	Fetal Brain Male	brain
22	chr8:10073200-10081800	Weak transcription	Liver	Liver
23	chr8:10074400-10080000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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