Variant report

Variant	rs7188923
Chromosome Location	chr16:81336356-81336357
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	chr16:81333746..81337567-chr16:81339565..81345155,7	MCF-7	breast:
2	chr16:81330393..81333447-chr16:81335349..81338225,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11150379	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11639552	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11643932	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12103052	0.85[GIH][hapmap];0.83[MEX][hapmap]
rs12448813	0.86[MEX][hapmap]
rs12927652	0.85[CHB][hapmap]
rs12929924	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs12933277	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs12934500	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs1564116	0.82[GIH][hapmap];0.83[MEX][hapmap]
rs16955063	0.85[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs1820260	0.85[CHB][hapmap]
rs2081263	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35151165	0.80[ASN][1000 genomes]
rs35378839	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56118809	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7194094	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs7203482	0.85[CHB][hapmap];0.83[MEX][hapmap]
rs918776	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9921359	0.84[GIH][hapmap];0.83[MEX][hapmap]
rs9922086	0.83[MEX][hapmap]

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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7188923	GAN	cis	parietal	SCAN
rs7188923	GAN	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81309200-81345200	Weak transcription	Brain Hippocampus Middle	brain
2	chr16:81328000-81347000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:81328200-81347000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:81328600-81347000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:81328800-81344800	Weak transcription	Fetal Intestine Small	intestine
6	chr16:81328800-81345200	Weak transcription	Fetal Intestine Large	intestine
7	chr16:81330600-81344800	Weak transcription	Esophagus	oesophagus
8	chr16:81330600-81347200	Weak transcription	Gastric	stomach
9	chr16:81331600-81344800	Weak transcription	Ovary	ovary
10	chr16:81331600-81347000	Weak transcription	Right Ventricle	heart
11	chr16:81331800-81346400	Weak transcription	Brain Anterior Caudate	brain
12	chr16:81332000-81345400	Weak transcription	Thymus	Thymus
13	chr16:81332200-81346400	Weak transcription	Fetal Stomach	stomach
14	chr16:81332400-81344600	Weak transcription	Brain Angular Gyrus	brain
15	chr16:81332400-81346400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:81333200-81346400	Weak transcription	Brain Germinal Matrix	brain
17	chr16:81334400-81346600	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:81334600-81347200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:81335400-81343600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:81335600-81346400	Weak transcription	Primary T cells from cord blood	blood

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