Variant report

Variant	rs4975147
Chromosome Location	chr4:79488270-79488271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79486780..79488459-chr4:79489706..79491396,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10003947	1.00[CHB][hapmap]
rs10213249	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11098257	1.00[CHB][hapmap]
rs12641838	1.00[CHB][hapmap]
rs12642521	1.00[CHB][hapmap]
rs12650752	0.84[EUR][1000 genomes]
rs13126934	1.00[CHB][hapmap]
rs1390738	0.89[CHD][hapmap];0.81[MEX][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1390739	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1472365	1.00[CHB][hapmap]
rs1496589	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1496590	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1496591	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1496592	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1496593	0.94[ASW][hapmap];0.95[CHD][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1587222	1.00[CHB][hapmap]
rs1603462	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1874486	1.00[CHB][hapmap]
rs1874487	1.00[CHB][hapmap]
rs3805174	1.00[CHB][hapmap]
rs3805175	1.00[CHB][hapmap]
rs4466067	1.00[CHB][hapmap]
rs6533780	0.94[ASW][hapmap];0.95[CHD][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6533804	1.00[CHB][hapmap]
rs6851992	1.00[CHB][hapmap]
rs7654600	1.00[CHB][hapmap]
rs7656476	1.00[CHB][hapmap]
rs7679218	1.00[CHB][hapmap]
rs7683399	1.00[CHB][hapmap]
rs7683582	1.00[CHB][hapmap]
rs7691521	0.95[CHD][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7696371	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs867677	1.00[CHB][hapmap]
rs950699	1.00[CHB][hapmap]

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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4975147	ANXA3	cis	lymphoblastoid	seeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
2	chr4:79478800-79489800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:79481800-79521000	Weak transcription	Right Ventricle	heart
4	chr4:79482400-79494800	Weak transcription	Left Ventricle	heart
5	chr4:79482600-79490600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:79482800-79490800	Weak transcription	Fetal Stomach	stomach
7	chr4:79482800-79505000	Weak transcription	Fetal Lung	lung
8	chr4:79483000-79489800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:79483000-79490600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:79483000-79490600	Weak transcription	Aorta	Aorta
11	chr4:79483000-79493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:79483000-79530000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:79484000-79490000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:79485000-79489200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:79485200-79490400	Enhancers	HSMMtube	muscle
16	chr4:79485200-79490600	Enhancers	HSMM	muscle
17	chr4:79485200-79490600	Genic enhancers	NHEK	skin
18	chr4:79485600-79490000	Enhancers	NH-A	brain
19	chr4:79485600-79490200	Enhancers	Hela-S3	cervix
20	chr4:79485600-79490600	Enhancers	Stomach Mucosa	stomach
21	chr4:79486000-79488800	Enhancers	HMEC	breast
22	chr4:79486200-79491200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr4:79486400-79488400	Enhancers	Lung	lung
24	chr4:79486400-79491200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:79486400-79491400	Enhancers	Fetal Intestine Large	intestine
26	chr4:79486600-79488400	Enhancers	Esophagus	oesophagus
27	chr4:79486600-79488600	Enhancers	Osteobl	bone
28	chr4:79486600-79490000	Enhancers	Right Atrium	heart
29	chr4:79486600-79491000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:79486600-79491200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:79486800-79488400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:79486800-79488600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:79486800-79489800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:79486800-79490200	Enhancers	HepG2	liver
35	chr4:79486800-79491000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:79486800-79491200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:79487000-79489400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:79487000-79490600	Enhancers	Fetal Heart	heart
39	chr4:79487000-79491000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:79487200-79488600	Enhancers	K562	blood
41	chr4:79487200-79489200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr4:79487200-79489200	Enhancers	Small Intestine	intestine
43	chr4:79487400-79488400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:79487400-79489000	Weak transcription	NHDF-Ad	bronchial
45	chr4:79487400-79489600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:79487400-79489600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:79487400-79489600	Weak transcription	HUVEC	blood vessel
48	chr4:79487400-79490800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:79487400-79491000	Enhancers	Fetal Intestine Small	intestine
50	chr4:79487800-79488400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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