Variant report

Variant	rs8022573
Chromosome Location	chr14:31698651-31698652
allele	C/G
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	chr14:31698614..31700267-chr14:31888206..31890598,2	K562	blood:
3	chr14:31688070..31689586-chr14:31697544..31699857,2	K562	blood:
4	chr14:31674995..31680040-chr14:31697468..31701447,9	K562	blood:
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
ENSG00000129493	Chromatin interaction
ENSG00000250365	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10132373	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10135213	0.95[EUR][1000 genomes]
rs10138200	0.95[EUR][1000 genomes]
rs10148827	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10151563	0.95[EUR][1000 genomes]
rs1041088	0.95[EUR][1000 genomes]
rs10872849	0.84[EUR][1000 genomes]
rs11156660	0.85[EUR][1000 genomes]
rs11156661	0.85[EUR][1000 genomes]
rs11626839	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12184973	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12434266	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12588620	0.84[EUR][1000 genomes]
rs12889162	0.95[EUR][1000 genomes]
rs2378848	0.84[EUR][1000 genomes]
rs4981828	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5024655	0.95[EUR][1000 genomes]
rs61995523	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6571402	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6571403	0.95[EUR][1000 genomes]
rs6571404	0.95[EUR][1000 genomes]
rs7146274	0.84[EUR][1000 genomes]
rs7147686	0.83[EUR][1000 genomes]
rs7156178	0.85[EUR][1000 genomes]
rs7160407	1.00[ASN][1000 genomes]
rs7494025	0.95[EUR][1000 genomes]
rs9788563	0.95[EUR][1000 genomes]

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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31697000-31699800	Enhancers	Fetal Intestine Small	intestine
2	chr14:31697400-31698800	Enhancers	Hela-S3	cervix
3	chr14:31697400-31699000	Enhancers	Stomach Mucosa	stomach
4	chr14:31697400-31699800	Enhancers	HMEC	breast
5	chr14:31697600-31698800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:31697600-31698800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr14:31697600-31698800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr14:31697600-31698800	Enhancers	NHEK	skin
9	chr14:31697600-31699000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:31697600-31699200	Enhancers	Liver	Liver
11	chr14:31697600-31699800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:31697600-31699800	Enhancers	Fetal Intestine Large	intestine
13	chr14:31697800-31698800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr14:31697800-31698800	Flanking Active TSS	A549	lung
15	chr14:31697800-31698800	Enhancers	Osteobl	bone
16	chr14:31697800-31699000	Enhancers	Fetal Lung	lung
17	chr14:31698000-31698800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr14:31698000-31698800	Enhancers	NHLF	lung
19	chr14:31698000-31699200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:31698000-31699400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr14:31698200-31698800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:31698200-31698800	Enhancers	NHDF-Ad	bronchial
23	chr14:31698400-31698800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr14:31698400-31698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:31698400-31698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:31698400-31698800	Enhancers	Adipose Nuclei	Adipose
27	chr14:31698400-31698800	Enhancers	Duodenum Mucosa	Duodenum
28	chr14:31698400-31699000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr14:31698400-31699000	Flanking Active TSS	HepG2	liver
30	chr14:31698400-31699400	Enhancers	GM12878-XiMat	blood
31	chr14:31698400-31699600	Enhancers	Placenta	Placenta
32	chr14:31698600-31698800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr14:31698600-31698800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr14:31698600-31698800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr14:31698600-31698800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:31698600-31698800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr14:31698600-31698800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:31698600-31698800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:31698600-31698800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:31698600-31699000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:31698600-31699000	Flanking Active TSS	K562	blood
42	chr14:31698600-31699200	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr14:31698600-31699400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr14:31698600-31699600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr14:31698600-31702600	Weak transcription	Fetal Heart	heart

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