Variant report

Variant	rs12684083
Chromosome Location	chr9:79148591-79148592
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	chr9:79145810..79147846-chr9:79148207..79150771,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10781364	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11144941	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11144942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11144943	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144944	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11144945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2490584	1.00[YRI][hapmap]
rs4744794	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4745555	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs506579	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs536644	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs540427	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs570212	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs570705	0.86[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes]
rs631887	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs638410	1.00[YRI][hapmap]
rs872849	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer 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	26 gene(s)	inside rSNPs	diseases
4	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv893480	chr9:79115844-79222584	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1050280	chr9:79133978-79160451	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2753141	chr9:79134434-79159993	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv614697	chr9:79148376-79160759	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79129200-79152000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr9:79134400-79150800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:79134600-79152000	Weak transcription	Pancreas	Pancrea
4	chr9:79137200-79173600	Weak transcription	Primary B cells from cord blood	blood
5	chr9:79137600-79152400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:79141600-79149200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:79144000-79153000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:79146000-79149200	Weak transcription	Small Intestine	intestine
9	chr9:79146000-79152000	Weak transcription	HSMMtube	muscle
10	chr9:79146400-79149200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:79146600-79149000	Weak transcription	Fetal Intestine Small	intestine
12	chr9:79146800-79152000	Weak transcription	Stomach Mucosa	stomach
13	chr9:79147000-79149200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr9:79147400-79149800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:79147800-79149600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:79147800-79149600	Enhancers	NHLF	lung
17	chr9:79148000-79148600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr9:79148000-79149200	Enhancers	Primary hematopoietic stem cells	blood
19	chr9:79148000-79149200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:79148000-79149200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:79148000-79149400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr9:79148000-79149600	Enhancers	NH-A	brain
23	chr9:79148200-79148600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr9:79148200-79148600	Weak transcription	NHDF-Ad	bronchial
25	chr9:79148200-79148800	Enhancers	Primary B cells from peripheral blood	blood
26	chr9:79148200-79149200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:79148400-79148600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:79148400-79150000	Enhancers	HSMM	muscle
29	chr9:79148400-79150200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr9:79148400-79150200	Enhancers	Osteobl	bone
31	chr9:79148400-79152000	Weak transcription	HMEC	breast
32	chr9:79148400-79159800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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