Variant report

Variant	rs495730
Chromosome Location	chr9:79140865-79140866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:79139489..79141014-chr9:79144768..79146907,2	MCF-7	breast:
2	chr9:79135787..79137939-chr9:79139543..79141153,2	MCF-7	breast:
3	chr9:79073601..79075979-chr9:79140675..79142601,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187210	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10735647	0.93[ASN][1000 genomes]
rs1754030	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1754031	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1754032	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2771025	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510119	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs543677	0.96[ASN][1000 genomes]
rs601944	0.92[AFR][1000 genomes]
rs629609	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636405	0.92[ASN][1000 genomes]
rs653372	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs679116	1.00[ASN][1000 genomes]
rs785906	0.93[ASN][1000 genomes]
rs785908	0.92[ASN][1000 genomes]
rs804781	0.92[ASN][1000 genomes]
rs811488	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

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	chr9:79118800-79145800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr9:79120400-79145200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:79128400-79141000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:79129200-79152000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr9:79131600-79141000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr9:79132200-79142600	Weak transcription	NHDF-Ad	bronchial
8	chr9:79132400-79148000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:79134400-79150800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:79134600-79152000	Weak transcription	Pancreas	Pancrea
11	chr9:79134800-79141000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr9:79134800-79142800	Weak transcription	Fetal Intestine Small	intestine
13	chr9:79136800-79145400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:79137000-79141400	Weak transcription	Gastric	stomach
15	chr9:79137200-79173600	Weak transcription	Primary B cells from cord blood	blood
16	chr9:79137600-79141000	Weak transcription	HMEC	breast
17	chr9:79137600-79152400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:79140200-79141400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr9:79140200-79141600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:79140200-79141600	Enhancers	Stomach Mucosa	stomach
21	chr9:79140400-79141400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:79140600-79141000	Enhancers	HSMMtube	muscle
23	chr9:79140600-79141600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr9:79140800-79141200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:79140800-79141200	Enhancers	Osteobl	bone
26	chr9:79140800-79141400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:79140800-79141400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr9:79140800-79141400	Enhancers	HSMM	muscle

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