Variant report

Variant	rs7026142
Chromosome Location	chr9:79125260-79125261
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:79114955..79117396-chr9:79123792..79125800,2	MCF-7	breast:
2	chr9:79124487..79126454-chr9:79129345..79131796,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11144929	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs11144942	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs11144944	0.89[CHB][hapmap]
rs11144945	0.90[CHB][hapmap];0.85[CHD][hapmap]
rs13296851	0.87[ASN][1000 genomes]
rs1547139	0.90[ASN][1000 genomes]
rs1547140	0.90[ASN][1000 genomes]
rs1969980	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs4744794	0.90[CHB][hapmap]
rs4745555	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs4745556	0.80[ASN][1000 genomes]
rs5020123	0.91[ASN][1000 genomes]
rs506579	0.90[CHB][hapmap]
rs536644	0.90[CHB][hapmap]
rs540427	0.90[CHB][hapmap]
rs570212	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs570705	0.90[CHB][hapmap]
rs590666	0.83[CHB][hapmap]
rs619429	0.89[CHB][hapmap]
rs620295	0.89[CHB][hapmap]
rs631887	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs634064	0.89[CHB][hapmap]
rs7026268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7040939	0.96[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	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
7	esv1805392	chr9:79122346-79125310	Weak transcription Active TSS Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv442155	chr9:79122348-79125310	Weak transcription Enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7026142	RFK	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79093400-79142800	Weak transcription	Fetal Stomach	stomach
2	chr9:79118600-79126200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:79118600-79134200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:79118800-79127600	Weak transcription	HSMMtube	muscle
5	chr9:79118800-79136400	Weak transcription	Gastric	stomach
6	chr9:79118800-79145800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr9:79119200-79127800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr9:79119200-79134000	Weak transcription	Fetal Intestine Small	intestine
9	chr9:79119800-79130400	Weak transcription	Primary B cells from cord blood	blood
10	chr9:79119800-79132200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr9:79120000-79127600	Weak transcription	HMEC	breast
12	chr9:79120400-79134000	Weak transcription	Fetal Intestine Large	intestine
13	chr9:79120400-79145200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr9:79120600-79128000	Weak transcription	HSMM	muscle
15	chr9:79120600-79131000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:79120800-79131200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr9:79120800-79131400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:79121000-79127600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:79122600-79131400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:79123800-79125600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr9:79124800-79125800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:79125000-79126200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:79125200-79125400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr9:79125200-79125600	Enhancers	Osteobl	bone
25	chr9:79125200-79125800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:79125200-79125800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:79125200-79125800	Enhancers	NHLF	lung
28	chr9:79125200-79126200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:79125200-79126200	Enhancers	NHDF-Ad	bronchial

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