Variant report

Variant	rs7613994
Chromosome Location	chr3:118899855-118899856
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:118898138..118900161-chr3:118953669..118956584,2	MCF-7	breast:
2	chr3:118897325..118898996-chr3:118899726..118902200,2	MCF-7	breast:
3	chr3:118898555..118900454-chr3:118903177..118905201,3	K562	blood:
4	chr1:230052219..230053047-chr3:118899636..118900342,2	MCF-7	breast:
5	chr3:118892884..118895765-chr3:118897916..118901609,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121578	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13092646	1.00[ASN][1000 genomes]
rs34520312	1.00[ASN][1000 genomes]
rs6779248	1.00[ASN][1000 genomes]
rs73187858	1.00[ASN][1000 genomes]
rs9840064	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829692	chr3:118727772-118901711	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7613994	UPK1B	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118884000-118914200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:118890200-118900600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:118895400-118900600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:118895600-118900600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:118895600-118900600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:118895600-118900600	Weak transcription	NH-A	brain
7	chr3:118895800-118900400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:118895800-118900600	Weak transcription	Placenta	Placenta
9	chr3:118896000-118900600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:118896000-118900800	Weak transcription	Osteobl	bone
11	chr3:118896200-118900000	Weak transcription	HMEC	breast
12	chr3:118896200-118900600	Weak transcription	Fetal Intestine Large	intestine
13	chr3:118896200-118901000	Weak transcription	Fetal Intestine Small	intestine
14	chr3:118896800-118900600	Weak transcription	NHEK	skin
15	chr3:118899000-118905000	Enhancers	Stomach Mucosa	stomach
16	chr3:118899600-118900200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:118899600-118905200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:118899800-118900400	Flanking Active TSS	A549	lung
19	chr3:118899800-118904400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:118899800-118904800	Enhancers	Placenta Amnion	Placenta Amnion

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