Variant report

Variant	rs11774870
Chromosome Location	chr8:10333443-10333444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs60836138	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6992818	0.90[CHB][hapmap];0.97[CHD][hapmap];0.82[ASN][1000 genomes]
rs7000959	0.80[CEU][hapmap];0.87[TSI][hapmap]
rs7007193	1.00[CEU][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7465251	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9693291	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9969461	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9969470	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
3	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
4	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
5	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
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv890349	chr8:10294330-10355302	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1019090	chr8:10303099-10369061	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1024976	chr8:10303099-10385361	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv890350	chr8:10305317-10346588	Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1031580	chr8:10316170-10334279	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11774870	EFCAB4B	trans	cerebellum	SCAN
rs11774870	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10322000-10335400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:10326200-10336800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10327000-10336600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr8:10328200-10335200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:10328200-10338000	Strong transcription	Fetal Brain Female	brain
6	chr8:10329000-10345600	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:10329200-10339200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:10329200-10340400	Weak transcription	Brain Angular Gyrus	brain
9	chr8:10329200-10342200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:10329800-10337200	Weak transcription	Left Ventricle	heart
11	chr8:10330000-10337000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:10330200-10335000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:10330200-10338000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:10330600-10335400	Strong transcription	Liver	Liver
15	chr8:10330800-10334600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:10331000-10335000	Weak transcription	Brain Anterior Caudate	brain
17	chr8:10331000-10337000	Weak transcription	Esophagus	oesophagus
18	chr8:10331000-10337400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:10331000-10341000	Weak transcription	Spleen	Spleen
20	chr8:10331000-10341800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:10331200-10342800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:10331400-10336600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:10332400-10335200	Weak transcription	Lung	lung
24	chr8:10332400-10339400	Weak transcription	Ovary	ovary
25	chr8:10332600-10333600	Weak transcription	Fetal Brain Male	brain
26	chr8:10332600-10334800	Weak transcription	Pancreas	Pancrea
27	chr8:10332600-10335200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:10332600-10340400	Weak transcription	Gastric	stomach
29	chr8:10332800-10335000	Weak transcription	Adipose Nuclei	Adipose
30	chr8:10332800-10335200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:10332800-10335600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr8:10332800-10336000	Weak transcription	Aorta	Aorta
33	chr8:10332800-10336800	Weak transcription	Fetal Intestine Large	intestine
34	chr8:10332800-10339800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr8:10332800-10344000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:10333000-10335200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:10333400-10335400	Weak transcription	Brain Germinal Matrix	brain

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