Variant report

Variant	rs62009270
Chromosome Location	chr15:78394979-78394980
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78389206..78391508-chr15:78393451..78395983,2	MCF-7	breast:
2	chr15:78394209..78398078-chr15:78398123..78400882,3	MCF-7	breast:
3	chr15:78372548..78375148-chr15:78394682..78397059,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11072727	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072728	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072729	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11639461	0.81[ASN][1000 genomes]
rs2304829	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2867922	0.81[ASN][1000 genomes]
rs59999498	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62009267	0.81[ASN][1000 genomes]
rs62009271	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6495273	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7162025	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7164338	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72732564	0.81[ASN][1000 genomes]
rs8028859	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8032449	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9806257	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62009270	CIB2	cis	Esophagus Mucosa	GTEx
rs62009270	CIB2	cis	Muscle Skeletal	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78385200-78400600	Weak transcription	Pancreas	Pancrea
2	chr15:78385600-78395400	Weak transcription	Spleen	Spleen
3	chr15:78386200-78396000	Weak transcription	Gastric	stomach
4	chr15:78386600-78396400	Weak transcription	Fetal Lung	lung
5	chr15:78386800-78396000	Weak transcription	Right Atrium	heart
6	chr15:78387000-78395400	Weak transcription	Fetal Stomach	stomach
7	chr15:78387200-78395400	Weak transcription	Fetal Intestine Large	intestine
8	chr15:78390000-78395000	Enhancers	Placenta	Placenta
9	chr15:78390000-78395600	Strong transcription	Fetal Intestine Small	intestine
10	chr15:78391000-78395200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:78391000-78395800	Weak transcription	Fetal Brain Female	brain
12	chr15:78391200-78396000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:78391800-78397000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:78392000-78400600	Strong transcription	Thymus	Thymus
15	chr15:78393200-78397000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:78393200-78398000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr15:78393200-78406000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:78393400-78395200	Strong transcription	Fetal Thymus	thymus
19	chr15:78393400-78401200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:78393800-78399200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr15:78394000-78395200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:78394200-78395800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:78394200-78395800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr15:78394200-78399200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:78394400-78395800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:78394400-78396000	Weak transcription	Brain Germinal Matrix	brain
27	chr15:78394600-78395000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr15:78394600-78398600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr15:78394600-78398800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr15:78394800-78395200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:78394800-78395800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:78394800-78396000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:78394800-78397400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:78394800-78398600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr15:78394800-78398600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr15:78394800-78398800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr15:78394800-78398800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:78394800-78398800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr15:78394800-78399000	Enhancers	Primary T helper cells fromperipheralblood	blood

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