Variant report

Variant	rs62390670
Chromosome Location	chr5:127866933-127866934
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1000488	0.96[ASN][1000 genomes]
rs13155917	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13159256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13163820	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13164781	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13175872	0.90[ASN][1000 genomes]
rs13177608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13177978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180029	0.93[ASN][1000 genomes]
rs13181926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13184921	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17677346	0.96[ASN][1000 genomes]
rs17677555	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2017775	0.96[ASN][1000 genomes]
rs34250874	0.96[ASN][1000 genomes]
rs34628042	0.96[ASN][1000 genomes]
rs34722489	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34797235	0.96[ASN][1000 genomes]
rs34952159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35776217	0.80[ASN][1000 genomes]
rs4836375	0.90[ASN][1000 genomes]
rs62390664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390669	0.92[AFR][1000 genomes]
rs62391614	0.96[ASN][1000 genomes]
rs62391642	0.96[ASN][1000 genomes]
rs62391643	0.96[ASN][1000 genomes]
rs66968874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785142	0.91[ASN][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	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv2763497	chr5:127745955-127882468	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1019560	chr5:127814656-127873680	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv537895	chr5:127814656-127873680	ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127827200-127870400	Weak transcription	Fetal Kidney	kidney
2	chr5:127840200-127870400	Weak transcription	Left Ventricle	heart
3	chr5:127840200-127872000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:127840400-127867600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:127841000-127870200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:127845600-127867800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:127845600-127870400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:127846000-127867800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:127847400-127869000	Weak transcription	NHDF-Ad	bronchial
10	chr5:127852800-127867800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:127853200-127872400	Weak transcription	Osteobl	bone
12	chr5:127853400-127867600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:127853600-127867800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:127854000-127872000	Weak transcription	Ovary	ovary
15	chr5:127855000-127867600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:127855000-127871200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:127855400-127867800	Weak transcription	Fetal Stomach	stomach
18	chr5:127857800-127869200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:127860000-127868400	Genic enhancers	Fetal Heart	heart
20	chr5:127860200-127870400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:127861000-127870600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:127861000-127871000	Weak transcription	A549	lung
23	chr5:127861000-127871800	Weak transcription	Fetal Lung	lung
24	chr5:127861400-127867800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:127861800-127869200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:127862400-127867400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:127862600-127872000	Weak transcription	NHLF	lung
28	chr5:127863200-127872000	Weak transcription	HUVEC	blood vessel
29	chr5:127863600-127867800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:127863600-127872000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:127864200-127867800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:127864600-127871800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:127864800-127867000	Strong transcription	Placenta	Placenta
34	chr5:127864800-127867200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:127864800-127867800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:127865000-127867800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:127865200-127867200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:127865200-127868400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:127865400-127867800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:127865400-127868400	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:127866000-127867600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:127866200-127868400	Weak transcription	NHEK	skin
43	chr5:127866200-127870600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr5:127866400-127867600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:127866400-127867800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:127866400-127870400	Weak transcription	NH-A	brain
47	chr5:127866400-127871000	Weak transcription	HMEC	breast
48	chr5:127866600-127870600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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