Variant report

Variant	rs9458813
Chromosome Location	chr6:163770211-163770212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163769098..163771002-chr6:163773045..163775280,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1764001	0.83[GIH][hapmap]
rs4708994	0.83[GIH][hapmap]
rs6901676	0.83[EUR][1000 genomes]
rs7775024	0.94[CEU][hapmap];0.82[CHB][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9347738	0.94[CEU][hapmap];0.86[CHB][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9347739	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9364685	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9365557	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9458810	0.85[AMR][1000 genomes]
rs9458814	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1022610	chr6:163591786-163814041	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv605188	chr6:163697439-163772096	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9458813	SOD2	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163745600-163773600	Enhancers	Brain Substantia Nigra	brain
2	chr6:163765000-163774000	Weak transcription	Spleen	Spleen
3	chr6:163765600-163773000	Enhancers	Brain Angular Gyrus	brain
4	chr6:163766000-163771400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr6:163767600-163776200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:163767600-163776600	Enhancers	Brain Cingulate Gyrus	brain
7	chr6:163768000-163770400	Enhancers	HSMMtube	muscle
8	chr6:163768000-163770600	Enhancers	Brain Anterior Caudate	brain
9	chr6:163768200-163771800	Weak transcription	Fetal Brain Male	brain
10	chr6:163768200-163775600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:163768200-163776400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:163768200-163776400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:163768400-163770400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:163768400-163771600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:163768400-163772000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:163768400-163773400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:163768400-163775800	Weak transcription	Right Atrium	heart
18	chr6:163768600-163770400	Weak transcription	NH-A	brain
19	chr6:163768600-163772200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:163768600-163773800	Weak transcription	HUVEC	blood vessel
21	chr6:163768600-163775200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:163768600-163775200	Weak transcription	Right Ventricle	heart
23	chr6:163768600-163775800	Weak transcription	Esophagus	oesophagus
24	chr6:163768800-163771200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:163768800-163771400	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:163768800-163774000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:163769000-163771000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr6:163769000-163775000	Weak transcription	Hela-S3	cervix
29	chr6:163769000-163776000	Weak transcription	Psoas Muscle	Psoas
30	chr6:163769600-163770600	Enhancers	Left Ventricle	heart
31	chr6:163769600-163770800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:163769800-163770400	Enhancers	HSMM	muscle
33	chr6:163769800-163770800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:163769800-163770800	Enhancers	NHDF-Ad	bronchial
35	chr6:163770000-163772000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:163770200-163770600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:163770200-163770600	Enhancers	Brain Hippocampus Middle	brain
38	chr6:163770200-163770600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:163770200-163770800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:163770200-163770800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:163770200-163771200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:163770200-163771600	Weak transcription	Fetal Heart	heart

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