Variant report

Variant	rs7729947
Chromosome Location	chr5:52252499-52252500
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGA2-4	chr5:52251187-52255037	NONHSAT101419

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10805444	0.89[AMR][1000 genomes]
rs10940285	0.91[AMR][1000 genomes]
rs10940286	0.89[AMR][1000 genomes]
rs10940287	0.86[AMR][1000 genomes]
rs11739193	0.87[AMR][1000 genomes]
rs11740823	0.87[AMR][1000 genomes]
rs11742531	0.87[AMR][1000 genomes]
rs11742558	0.87[AMR][1000 genomes]
rs11743233	0.87[AMR][1000 genomes]
rs12659969	0.87[AMR][1000 genomes]
rs1421925	0.84[ASN][1000 genomes]
rs165981	0.84[AMR][1000 genomes]
rs34598281	0.85[AMR][1000 genomes]
rs6882655	0.91[AMR][1000 genomes]
rs7035	0.91[AMR][1000 genomes]
rs9686952	0.87[AMR][1000 genomes]
rs9791116	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7729947	ITGA2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52240000-52253000	Weak transcription	Right Ventricle	heart
2	chr5:52240000-52253400	Weak transcription	Esophagus	oesophagus
3	chr5:52240000-52253600	Weak transcription	Lung	lung
4	chr5:52240200-52253400	Weak transcription	Spleen	Spleen
5	chr5:52243400-52252600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:52244800-52253600	Weak transcription	Fetal Stomach	stomach
7	chr5:52245200-52253400	Weak transcription	HSMMtube	muscle
8	chr5:52245600-52252600	Weak transcription	Dnd41	blood
9	chr5:52245800-52253000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:52246000-52254400	Weak transcription	Fetal Kidney	kidney
11	chr5:52246200-52254200	Weak transcription	Fetal Lung	lung
12	chr5:52246800-52253600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:52247000-52253000	Strong transcription	Stomach Smooth Muscle	stomach
14	chr5:52247600-52252800	Weak transcription	NHEK	skin
15	chr5:52247600-52253000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:52247600-52253000	Weak transcription	HMEC	breast
17	chr5:52247600-52257000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:52248200-52252600	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:52248600-52252800	Strong transcription	Adipose Nuclei	Adipose
20	chr5:52249000-52252800	Strong transcription	Colon Smooth Muscle	Colon
21	chr5:52249800-52252800	Strong transcription	Left Ventricle	heart
22	chr5:52249800-52253200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:52250000-52271600	Weak transcription	Aorta	Aorta
24	chr5:52250200-52253200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:52250400-52252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:52250400-52252600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:52250400-52252800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:52250800-52252600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:52251800-52252600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:52251800-52253600	Enhancers	Fetal Intestine Small	intestine
31	chr5:52251800-52254000	Enhancers	Fetal Intestine Large	intestine
32	chr5:52252000-52252600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:52252000-52253600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:52252000-52253600	Enhancers	Duodenum Mucosa	Duodenum
35	chr5:52252000-52253600	Flanking Active TSS	HepG2	liver
36	chr5:52252200-52252800	Genic enhancers	Liver	Liver
37	chr5:52252200-52253600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:52252400-52253200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:52252400-52253200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr5:52252400-52253600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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