Variant report

Variant	rs12683020
Chromosome Location	chr9:116814661-116814662
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	chr9:116808442..116810806-chr9:116812580..116815116,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12554621	0.86[AMR][1000 genomes]
rs7037095	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 miRNA target site	155 gene(s)	inside rSNPs	diseases
3	nsv466514	chr9:116810890-116867054	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv615222	chr9:116810890-116867054	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription 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	155 gene(s)	inside rSNPs	diseases
6	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
7	nsv466515	chr9:116814661-116867054	Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv615223	chr9:116814661-116867054	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116795200-116821800	Weak transcription	Right Atrium	heart
2	chr9:116796200-116815800	Weak transcription	Small Intestine	intestine
3	chr9:116804400-116816400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:116807600-116817200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr9:116807800-116815200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:116807800-116816200	Strong transcription	Liver	Liver
7	chr9:116808400-116816600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:116808600-116817600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:116809400-116816200	Strong transcription	HUVEC	blood vessel
10	chr9:116809400-116818800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:116809800-116815000	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr9:116809800-116815000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:116809800-116815000	Strong transcription	Ovary	ovary
14	chr9:116809800-116815000	Strong transcription	NHLF	lung
15	chr9:116809800-116816400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:116809800-116817600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:116809800-116821600	Strong transcription	Fetal Stomach	stomach
18	chr9:116809800-116822000	Strong transcription	Fetal Intestine Small	intestine
19	chr9:116810000-116815400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:116810000-116816200	Strong transcription	Adipose Nuclei	Adipose
21	chr9:116810000-116816200	Strong transcription	Brain Germinal Matrix	brain
22	chr9:116810000-116816400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr9:116810000-116817000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:116810000-116817600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:116810200-116814800	Strong transcription	HSMMtube	muscle
26	chr9:116810200-116815000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:116810200-116815000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:116810200-116815000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr9:116810200-116815200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:116810200-116815400	Strong transcription	Osteobl	bone
31	chr9:116810200-116816000	Strong transcription	Fetal Intestine Large	intestine
32	chr9:116810200-116816200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:116810200-116816200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:116810200-116816400	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr9:116810200-116817200	Strong transcription	Fetal Muscle Leg	muscle
36	chr9:116810400-116814800	Strong transcription	Spleen	Spleen
37	chr9:116810400-116815000	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr9:116810400-116815000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:116810400-116815000	Strong transcription	Pancreas	Pancrea
40	chr9:116810400-116816000	Strong transcription	Fetal Brain Female	brain
41	chr9:116811000-116816000	Weak transcription	Fetal Heart	heart
42	chr9:116811000-116816200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:116811400-116822000	Weak transcription	Fetal Kidney	kidney
44	chr9:116811600-116814800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:116811800-116819800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:116812000-116816000	Strong transcription	Lung	lung
47	chr9:116812000-116821400	Weak transcription	Left Ventricle	heart
48	chr9:116812000-116821400	Weak transcription	NHDF-Ad	bronchial
49	chr9:116812000-116821600	Weak transcription	Brain Angular Gyrus	brain
50	chr9:116812000-116824200	Weak transcription	Rectal Mucosa Donor 31	rectum

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