Variant report

Variant	rs12064598
Chromosome Location	chr1:155458656-155458657
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	chr1:155457376..155459656-chr1:155466339..155468887,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10752610	1.00[CHD][hapmap]
rs12048260	1.00[LWK][hapmap]
rs12069996	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2362361	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs34618533	1.00[LWK][hapmap]
rs35777901	1.00[CHD][hapmap]
rs4472748	1.00[CEU][hapmap]
rs4971051	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1795478	chr1:155334933-155510824	Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1803551	chr1:155334933-155522572	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv1800974	chr1:155367680-155510824	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv872468	chr1:155413304-155549562	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155424600-155462600	Weak transcription	Pancreas	Pancrea
2	chr1:155441400-155463600	Weak transcription	Fetal Heart	heart
3	chr1:155441600-155460200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:155441600-155460400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:155442200-155469800	Weak transcription	Small Intestine	intestine
6	chr1:155443200-155470400	Weak transcription	Right Ventricle	heart
7	chr1:155447200-155460000	Weak transcription	Colonic Mucosa	Colon
8	chr1:155449000-155469400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:155450000-155483000	Weak transcription	NHLF	lung
10	chr1:155451600-155466000	Weak transcription	NH-A	brain
11	chr1:155452000-155488800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:155452200-155459200	Weak transcription	Fetal Brain Female	brain
13	chr1:155452200-155459600	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:155452200-155460200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:155452200-155460400	Weak transcription	Gastric	stomach
16	chr1:155452200-155460400	Weak transcription	Ovary	ovary
17	chr1:155452200-155460800	Weak transcription	Liver	Liver
18	chr1:155452200-155461200	Weak transcription	HepG2	liver
19	chr1:155452200-155461600	Weak transcription	Left Ventricle	heart
20	chr1:155452200-155464000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:155452200-155464000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:155452200-155464200	Weak transcription	Primary T cells from cord blood	blood
23	chr1:155452200-155464600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:155452200-155467800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:155452200-155469000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:155452200-155469000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:155452200-155469000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:155452200-155469000	Weak transcription	NHEK	skin
29	chr1:155452200-155469200	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:155452200-155469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:155452200-155469600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:155452200-155469600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:155452200-155469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:155452200-155469600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:155452200-155469600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:155452200-155469800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:155452200-155469800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:155452200-155469800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr1:155452200-155469800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:155452200-155469800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:155452200-155469800	Weak transcription	Adipose Nuclei	Adipose
42	chr1:155452200-155469800	Weak transcription	Fetal Intestine Large	intestine
43	chr1:155452200-155469800	Weak transcription	Fetal Lung	lung
44	chr1:155452200-155469800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:155452200-155469800	Weak transcription	Right Atrium	heart
46	chr1:155452200-155469800	Weak transcription	Hela-S3	cervix
47	chr1:155452200-155470200	Weak transcription	Spleen	Spleen
48	chr1:155452200-155475000	Weak transcription	K562	blood
49	chr1:155452200-155477400	Weak transcription	Lung	lung
50	chr1:155452200-155481400	Weak transcription	Thymus	Thymus

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