Variant report

Variant	rs7707416
Chromosome Location	chr5:127038457-127038458
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBN2-4	chr5:127038419-127038662	XLOC_004991

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10060515	0.80[ASN][1000 genomes]
rs10463500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10463830	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10463831	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10519957	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11241937	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12109863	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12110005	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12513657	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12513840	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12514061	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12514063	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12515664	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12515942	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12516808	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12518298	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12519916	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12520199	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12522308	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12523504	0.85[AMR][1000 genomes]
rs1515641	0.81[AMR][1000 genomes]
rs17696654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17696713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17696737	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17764290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17764334	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17764418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1966643	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2280170	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35164039	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35890477	0.83[AMR][1000 genomes]
rs4835929	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4836329	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4836331	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4836333	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6860127	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874681	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874932	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6877039	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73341170	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73341185	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73343005	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73343059	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7706845	0.85[AMR][1000 genomes]
rs7711139	1.00[ASW][hapmap];0.83[LWK][hapmap];0.82[YRI][hapmap]
rs7714051	0.81[AMR][1000 genomes]
rs7722425	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs7734486	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9686108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9688160	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1798341	chr5:127038316-127061310	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127032800-127040800	Weak transcription	NHDF-Ad	bronchial
2	chr5:127033000-127040600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:127033000-127040600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:127033000-127041000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:127033800-127040600	Weak transcription	NHLF	lung
6	chr5:127034200-127040800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:127034200-127041000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:127035800-127039000	Weak transcription	A549	lung
9	chr5:127035800-127040600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:127035800-127041000	Weak transcription	Fetal Lung	lung
11	chr5:127035800-127041200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:127036400-127041000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:127038200-127038800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:127038200-127039200	Enhancers	Rectal Smooth Muscle	rectum
15	chr5:127038200-127039800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:127038400-127038600	Enhancers	Right Atrium	heart
17	chr5:127038400-127038800	Enhancers	Fetal Muscle Leg	muscle
18	chr5:127038400-127038800	Enhancers	Psoas Muscle	Psoas
19	chr5:127038400-127039000	Flanking Active TSS	Left Ventricle	heart
20	chr5:127038400-127039200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:127038400-127039200	Enhancers	Right Ventricle	heart
22	chr5:127038400-127039400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:127038400-127039400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr5:127038400-127039600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:127038400-127039800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:127038400-127041600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:127038400-127041600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr5:127038400-127041800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links