Variant report

Variant	rs680448
Chromosome Location	chr9:79126953-79126954
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	chr9:79125526..79127916-chr9:79192388..79194020,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs4745555	0.82[JPT][hapmap]
rs537229	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs539188	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs585575	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs678258	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs693165	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs785905	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9886680	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs9886712	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv437089	chr9:79116975-79139590	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79093400-79142800	Weak transcription	Fetal Stomach	stomach
2	chr9:79118600-79134200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:79118800-79127600	Weak transcription	HSMMtube	muscle
4	chr9:79118800-79136400	Weak transcription	Gastric	stomach
5	chr9:79118800-79145800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr9:79119200-79127800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr9:79119200-79134000	Weak transcription	Fetal Intestine Small	intestine
8	chr9:79119800-79130400	Weak transcription	Primary B cells from cord blood	blood
9	chr9:79119800-79132200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr9:79120000-79127600	Weak transcription	HMEC	breast
11	chr9:79120400-79134000	Weak transcription	Fetal Intestine Large	intestine
12	chr9:79120400-79145200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr9:79120600-79128000	Weak transcription	HSMM	muscle
14	chr9:79120600-79131000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:79120800-79131200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr9:79120800-79131400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:79121000-79127600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:79122600-79131400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:79125600-79127400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr9:79125600-79127400	Weak transcription	Osteobl	bone
21	chr9:79125800-79127400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:79125800-79127600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:79125800-79127800	Weak transcription	NHLF	lung
24	chr9:79126200-79127000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:79126200-79127400	Weak transcription	NHDF-Ad	bronchial
26	chr9:79126200-79127600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:79126200-79127600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:79126400-79140800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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