Variant report

Variant	rs4975071
Chromosome Location	chr4:79488055-79488056
allele	A/T
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: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10028001	0.86[CHB][hapmap]
rs1390738	0.82[ASW][hapmap]
rs1546176	1.00[ASW][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1546177	0.83[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1546178	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2867461	0.86[CHB][hapmap]
rs931602	1.00[ASW][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[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	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
rs4975071	ANXA3	cis	multi-tissue	Pritchard

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	chr4:79474600-79488200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:79478800-79489800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:79481800-79521000	Weak transcription	Right Ventricle	heart
5	chr4:79482400-79494800	Weak transcription	Left Ventricle	heart
6	chr4:79482600-79490600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:79482800-79490800	Weak transcription	Fetal Stomach	stomach
8	chr4:79482800-79505000	Weak transcription	Fetal Lung	lung
9	chr4:79483000-79489800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:79483000-79490600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:79483000-79490600	Weak transcription	Aorta	Aorta
12	chr4:79483000-79493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:79483000-79530000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:79484000-79488200	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:79484000-79490000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:79485000-79489200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:79485200-79490400	Enhancers	HSMMtube	muscle
18	chr4:79485200-79490600	Enhancers	HSMM	muscle
19	chr4:79485200-79490600	Genic enhancers	NHEK	skin
20	chr4:79485600-79490000	Enhancers	NH-A	brain
21	chr4:79485600-79490200	Enhancers	Hela-S3	cervix
22	chr4:79485600-79490600	Enhancers	Stomach Mucosa	stomach
23	chr4:79486000-79488200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:79486000-79488800	Enhancers	HMEC	breast
25	chr4:79486200-79491200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr4:79486400-79488400	Enhancers	Lung	lung
27	chr4:79486400-79491200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:79486400-79491400	Enhancers	Fetal Intestine Large	intestine
29	chr4:79486600-79488200	Enhancers	NHLF	lung
30	chr4:79486600-79488400	Enhancers	Esophagus	oesophagus
31	chr4:79486600-79488600	Enhancers	Osteobl	bone
32	chr4:79486600-79490000	Enhancers	Right Atrium	heart
33	chr4:79486600-79491000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:79486600-79491200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:79486800-79488400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:79486800-79488600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:79486800-79489800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:79486800-79490200	Enhancers	HepG2	liver
39	chr4:79486800-79491000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:79486800-79491200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:79487000-79488200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:79487000-79488200	Enhancers	Stomach Smooth Muscle	stomach
43	chr4:79487000-79489400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:79487000-79490600	Enhancers	Fetal Heart	heart
45	chr4:79487000-79491000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:79487200-79488200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:79487200-79488600	Enhancers	K562	blood
48	chr4:79487200-79489200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr4:79487200-79489200	Enhancers	Small Intestine	intestine
50	chr4:79487400-79488200	Enhancers	A549	lung

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