Variant report

Variant	rs12445050
Chromosome Location	chr16:81870969-81870970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81863202..81865359-chr16:81868245..81871307,3	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs13334290	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13334419	1.00[JPT][hapmap]
rs13335344	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13338037	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13339274	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28734133	0.95[ASN][1000 genomes]
rs4072683	0.81[GIH][hapmap]
rs4547325	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4616280	0.92[ASN][1000 genomes]
rs56188311	0.83[ASN][1000 genomes]
rs62044136	0.88[ASN][1000 genomes]
rs62044137	0.90[ASN][1000 genomes]
rs62044141	0.95[ASN][1000 genomes]
rs62044142	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62045701	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62045702	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62045704	0.97[ASN][1000 genomes]
rs62045706	0.90[ASN][1000 genomes]
rs6564923	0.83[ASN][1000 genomes]
rs7188868	0.81[ASN][1000 genomes]
rs7193477	0.83[ASN][1000 genomes]
rs7196980	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74029252	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8047437	0.95[ASN][1000 genomes]
rs8182116	0.82[CHB][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[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	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
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1061544	chr16:81834313-81877375	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12445050	C1orf57	trans	cerebellum	SCAN
rs12445050	TAF1C	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81858800-81878800	Weak transcription	Fetal Intestine Small	intestine
2	chr16:81861600-81871800	Enhancers	Primary hematopoietic stem cells	blood
3	chr16:81865200-81874200	Weak transcription	Pancreas	Pancrea
4	chr16:81865400-81872800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr16:81865800-81876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:81866800-81871000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr16:81866800-81873800	Weak transcription	Lung	lung
8	chr16:81866800-81875600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:81866800-81898600	Weak transcription	Right Atrium	heart
10	chr16:81867600-81873000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr16:81868000-81872800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr16:81868200-81871400	Enhancers	Spleen	Spleen
13	chr16:81868200-81886000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr16:81868400-81871000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr16:81868400-81875600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:81869400-81875400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr16:81869600-81871600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr16:81869800-81871200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:81869800-81871200	Enhancers	Fetal Thymus	thymus
20	chr16:81869800-81871600	Enhancers	Duodenum Mucosa	Duodenum
21	chr16:81869800-81871800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:81869800-81872800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr16:81870000-81875600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr16:81870000-81875800	Enhancers	Primary B cells from peripheral blood	blood
25	chr16:81870200-81871200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr16:81870400-81871600	Enhancers	Adipose Nuclei	Adipose
27	chr16:81870400-81871600	Flanking Active TSS	GM12878-XiMat	blood
28	chr16:81870600-81871000	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr16:81870600-81871200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr16:81870600-81874200	Weak transcription	Esophagus	oesophagus
31	chr16:81870800-81871200	Enhancers	Duodenum Smooth Muscle	Duodenum

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