Variant report

Variant	rs7161558
Chromosome Location	chr14:31698164-31698165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31674688..31677342-chr14:31695675..31700242,4	MCF-7	breast:
2	chr14:31688070..31689586-chr14:31697544..31699857,2	K562	blood:
3	chr14:31674995..31680040-chr14:31697468..31701447,9	K562	blood:
4	chr14:31675557..31678562-chr14:31695540..31698390,3	MCF-7	breast:
5	chr14:31697845..31699989-chr14:31707051..31710155,3	MCF-7	breast:
6	chr14:31698046..31700432-chr14:31824994..31826810,2	K562	blood:
7	chr14:31675302..31679070-chr14:31697096..31701615,13	K562	blood:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10135901	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137205	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10872851	0.81[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap]
rs11156659	0.89[EUR][1000 genomes]
rs12185024	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12883671	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12883762	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12889534	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12893153	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12893469	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12895556	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12897427	0.83[EUR][1000 genomes]
rs12898184	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2093616	0.87[AMR][1000 genomes]
rs2378833	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4981829	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4981830	0.83[AMR][1000 genomes]
rs55633656	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7157977	0.81[GIH][hapmap];0.82[MEX][hapmap]
rs72672613	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8014203	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8017888	0.87[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases
3	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7161558	HEATR5A	cis	cerebellum	SCAN
rs7161558	PRKD1	cis	parietal	SCAN
rs7161558	RP11-176H8.1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31697000-31698400	Enhancers	HepG2	liver
2	chr14:31697000-31699800	Enhancers	Fetal Intestine Small	intestine
3	chr14:31697400-31698600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr14:31697400-31698800	Enhancers	Hela-S3	cervix
5	chr14:31697400-31699000	Enhancers	Stomach Mucosa	stomach
6	chr14:31697400-31699800	Enhancers	HMEC	breast
7	chr14:31697600-31698600	Enhancers	K562	blood
8	chr14:31697600-31698800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:31697600-31698800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:31697600-31698800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr14:31697600-31698800	Enhancers	NHEK	skin
12	chr14:31697600-31699000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:31697600-31699200	Enhancers	Liver	Liver
14	chr14:31697600-31699800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:31697600-31699800	Enhancers	Fetal Intestine Large	intestine
16	chr14:31697800-31698400	Flanking Active TSS	GM12878-XiMat	blood
17	chr14:31697800-31698600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:31697800-31698800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr14:31697800-31698800	Flanking Active TSS	A549	lung
20	chr14:31697800-31698800	Enhancers	Osteobl	bone
21	chr14:31697800-31699000	Enhancers	Fetal Lung	lung
22	chr14:31698000-31698200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr14:31698000-31698600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:31698000-31698600	Enhancers	Fetal Heart	heart
25	chr14:31698000-31698600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr14:31698000-31698800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr14:31698000-31698800	Enhancers	NHLF	lung
28	chr14:31698000-31699200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:31698000-31699400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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