Variant report

Variant	rs28887839
Chromosome Location	chr8:11000413-11000414
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	chr8:10989309..10991277-chr8:11000364..11001975,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2409713	0.82[EUR][1000 genomes]
rs2409714	0.83[EUR][1000 genomes]
rs2409715	0.83[EUR][1000 genomes]
rs2409716	0.83[EUR][1000 genomes]
rs2409717	0.81[EUR][1000 genomes]
rs28630509	0.85[EUR][1000 genomes]
rs34162231	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736014	0.84[ASN][1000 genomes]
rs4840549	0.86[EUR][1000 genomes]
rs4840550	0.85[ASN][1000 genomes]
rs4841501	0.86[EUR][1000 genomes]
rs67849263	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823349	0.86[EUR][1000 genomes]
rs7829396	0.86[EUR][1000 genomes]
rs7845493	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1026331	chr8:10955941-11046394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv1019796	chr8:10979442-11010826	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28887839	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10966400-11026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:10982800-11003400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:10983000-11002000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:10983000-11003200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:10983200-11001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10986400-11002000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:10989600-11014200	Weak transcription	Pancreas	Pancrea
8	chr8:10991800-11011800	Weak transcription	Left Ventricle	heart
9	chr8:10992800-11002000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:10997000-11001000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:10997000-11002000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:10997200-11021000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:10997400-11001800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:10997400-11002000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:10997400-11003800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:10997400-11006000	Weak transcription	HSMMtube	muscle
17	chr8:10997400-11011200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:10997400-11017400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:10997600-11002000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:10998000-11001800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:10998000-11002000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:10998200-11002000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:10998600-11002000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:10999200-11002000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:10999400-11002000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:10999400-11002000	Weak transcription	Lung	lung
27	chr8:10999400-11009200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:10999400-11021000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:11000200-11000800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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