Variant report

Variant	rs2805806
Chromosome Location	chr9:100335653-100335654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10759781	0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs10983030	0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs12004491	0.84[ASN][1000 genomes]
rs1475544	0.86[ASN][1000 genomes]
rs1800975	0.88[CHD][hapmap];0.82[JPT][hapmap]
rs2026132	0.86[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2149986	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2773347	0.84[CHD][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2773351	0.81[ASN][1000 genomes]
rs2773355	0.94[ASN][1000 genomes]
rs2773357	0.92[EUR][1000 genomes]
rs2805775	0.81[ASN][1000 genomes]
rs2805779	0.86[CHD][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs2805791	0.90[ASN][1000 genomes]
rs2805801	0.87[ASN][1000 genomes]
rs2805803	0.95[ASN][1000 genomes]
rs2805807	0.98[AFR][1000 genomes]
rs2805837	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs2805839	0.86[CHD][hapmap];0.81[JPT][hapmap]
rs2808668	0.82[JPT][hapmap]
rs2808672	0.80[CEU][hapmap];0.90[TSI][hapmap]
rs3994138	0.80[CEU][hapmap]
rs73656827	0.85[ASN][1000 genomes]
rs913912	0.92[ASN][1000 genomes]
rs958346	0.86[CHD][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]

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	nsv1039240	chr9:100292680-100415269	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv540179	chr9:100292680-100415269	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2805806	ZNF484	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100326800-100337000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:100327000-100349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:100327200-100340000	Weak transcription	Fetal Stomach	stomach
4	chr9:100330400-100339400	Weak transcription	Brain Germinal Matrix	brain
5	chr9:100330800-100336200	Strong transcription	K562	blood
6	chr9:100332600-100336400	Strong transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:100333400-100338400	Strong transcription	Ovary	ovary
8	chr9:100333400-100340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:100333600-100336200	Strong transcription	Aorta	Aorta
10	chr9:100333600-100339400	Weak transcription	Pancreas	Pancrea
11	chr9:100333600-100341400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:100333600-100361800	Weak transcription	Gastric	stomach
13	chr9:100334000-100337400	Weak transcription	Adipose Nuclei	Adipose
14	chr9:100334200-100340800	Weak transcription	Psoas Muscle	Psoas
15	chr9:100334200-100356000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:100334400-100336000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:100334400-100337000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:100334400-100338600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr9:100334400-100356000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr9:100334400-100356400	Weak transcription	HSMMtube	muscle
21	chr9:100334600-100335800	Weak transcription	Brain Anterior Caudate	brain
22	chr9:100334600-100337400	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:100334600-100337600	Weak transcription	GM12878-XiMat	blood
24	chr9:100334600-100337800	Strong transcription	Fetal Brain Female	brain
25	chr9:100334600-100339400	Weak transcription	Lung	lung
26	chr9:100334600-100353600	Weak transcription	Colon Smooth Muscle	Colon
27	chr9:100334800-100338600	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr9:100334800-100355600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr9:100335000-100341800	Weak transcription	Fetal Heart	heart
30	chr9:100335200-100336000	Strong transcription	Fetal Muscle Leg	muscle
31	chr9:100335400-100336200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:100335400-100336200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr9:100335400-100338200	Strong transcription	Left Ventricle	heart
34	chr9:100335400-100338400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr9:100335400-100341000	Weak transcription	Right Ventricle	heart
36	chr9:100335600-100336200	Strong transcription	Brain Substantia Nigra	brain
37	chr9:100335600-100338600	Weak transcription	Liver	Liver
38	chr9:100335600-100356600	Weak transcription	Brain Angular Gyrus	brain

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