Variant report

Variant	rs4698381
Chromosome Location	chr4:15403710-15403711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15401621..15404342-chr4:15426041..15427712,2	MCF-7	breast:
2	chr4:15400431..15401971-chr4:15403659..15405343,2	MCF-7	breast:
3	chr4:15396902..15399752-chr4:15401577..15403886,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10004540	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10032808	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10516286	1.00[CEU][hapmap]
rs11942186	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11942959	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11946436	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13353624	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1468737	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16891867	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16892051	0.83[LWK][hapmap]
rs16892054	0.83[LWK][hapmap]
rs16892112	0.83[LWK][hapmap];0.85[MKK][hapmap]
rs1861045	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1861046	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1861049	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1861050	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2080176	0.83[JPT][hapmap]
rs2080177	0.83[JPT][hapmap]
rs2192359	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2192360	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2192361	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2192362	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28405315	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28448602	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28517424	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28697056	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3822297	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4140933	0.83[JPT][hapmap]
rs4698105	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4698106	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4698107	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4698108	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4698112	0.83[JPT][hapmap]
rs4698380	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4698383	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4698384	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60487386	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61170754	0.86[EUR][1000 genomes]
rs6810461	0.83[JPT][hapmap]
rs6814988	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836616	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6837765	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723299	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7656974	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661435	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs971490	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9998686	0.83[JPT][hapmap]
rs9998722	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4698381	LOC285550	cis	multi-tissue	Pritchard

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15399000-15405200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr4:15400000-15405400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:15400200-15405000	Enhancers	Primary hematopoietic stem cells	blood
4	chr4:15401200-15405400	Enhancers	Rectal Smooth Muscle	rectum
5	chr4:15401400-15405200	Enhancers	NHLF	lung
6	chr4:15401600-15404000	Enhancers	HMEC	breast
7	chr4:15401600-15404200	Enhancers	HSMM	muscle
8	chr4:15401600-15405000	Enhancers	HSMMtube	muscle
9	chr4:15401600-15405200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:15401800-15404000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:15401800-15404000	Enhancers	Fetal Stomach	stomach
12	chr4:15401800-15404800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:15402000-15403800	Enhancers	Fetal Thymus	thymus
14	chr4:15402000-15404000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr4:15402000-15404000	Enhancers	Fetal Lung	lung
16	chr4:15402000-15404200	Enhancers	Aorta	Aorta
17	chr4:15402000-15406200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:15402200-15403800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:15402200-15404000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:15402200-15404200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:15402200-15404200	Enhancers	Fetal Heart	heart
22	chr4:15402200-15404600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:15402200-15405000	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr4:15402200-15405400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:15402600-15404600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:15402600-15405200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:15402600-15405200	Enhancers	Stomach Smooth Muscle	stomach
28	chr4:15402800-15404000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:15403000-15403800	Enhancers	Hela-S3	cervix
30	chr4:15403000-15404000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:15403000-15404000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:15403000-15404200	Enhancers	Adipose Nuclei	Adipose
33	chr4:15403000-15404800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:15403000-15404800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:15403000-15404800	Enhancers	NHEK	skin
36	chr4:15403000-15405000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:15403000-15405200	Enhancers	NHDF-Ad	bronchial
38	chr4:15403200-15403800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:15403200-15404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:15403200-15404800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:15403200-15404800	Weak transcription	Esophagus	oesophagus
42	chr4:15403200-15404800	Weak transcription	Ovary	ovary
43	chr4:15403200-15405200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr4:15403200-15405200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr4:15403200-15405200	Enhancers	Colon Smooth Muscle	Colon
46	chr4:15403200-15405400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr4:15403200-15405400	Enhancers	Osteobl	bone
48	chr4:15403200-15406800	Weak transcription	Left Ventricle	heart
49	chr4:15403200-15406800	Weak transcription	Lung	lung
50	chr4:15403200-15406800	Weak transcription	Right Ventricle	heart

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