Variant report

Variant	rs73784600
Chromosome Location	chr5:127805404-127805405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10039900	0.81[ASN][1000 genomes]
rs10042096	0.97[ASN][1000 genomes]
rs10053025	0.97[ASN][1000 genomes]
rs10477685	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10478812	0.92[ASN][1000 genomes]
rs10478813	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10478814	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11960575	0.92[ASN][1000 genomes]
rs17164094	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17164113	0.97[ASN][1000 genomes]
rs17839642	0.91[ASN][1000 genomes]
rs1897998	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55721088	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56049336	0.92[ASN][1000 genomes]
rs57050667	0.97[ASN][1000 genomes]
rs58889726	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59674940	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60201468	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60571728	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60975118	0.91[ASN][1000 genomes]
rs6595830	0.97[ASN][1000 genomes]
rs6595831	0.97[ASN][1000 genomes]
rs6595834	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6595836	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6595837	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6860199	0.97[ASN][1000 genomes]
rs6864057	0.94[ASN][1000 genomes]
rs6886186	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6887851	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6892484	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6893116	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6893181	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73346331	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73787623	0.91[ASN][1000 genomes]
rs768744	0.98[ASN][1000 genomes]
rs7703313	0.92[ASN][1000 genomes]
rs7708713	0.97[ASN][1000 genomes]
rs7713044	0.97[ASN][1000 genomes]
rs7722917	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7722950	0.97[ASN][1000 genomes]
rs7723500	0.97[ASN][1000 genomes]
rs7725740	0.97[ASN][1000 genomes]
rs7726535	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9327478	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs981411	0.89[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	nsv599698	chr5:127744825-127850855	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv1015650	chr5:127745955-127866566	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	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
5	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
6	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127772600-127807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:127773000-127809400	Weak transcription	HMEC	breast
3	chr5:127773400-127830000	Weak transcription	NHEK	skin
4	chr5:127779400-127807400	Weak transcription	Fetal Kidney	kidney
5	chr5:127780400-127806400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:127784000-127826800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:127787400-127806200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:127788800-127810600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:127792200-127807000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:127792200-127808200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:127792400-127812400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:127792800-127805800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:127795800-127806000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:127796200-127812000	Weak transcription	A549	lung
15	chr5:127796400-127826600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:127796800-127807200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:127798400-127807400	Weak transcription	Fetal Intestine Large	intestine
18	chr5:127800400-127845600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:127800600-127807600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:127800600-127813400	Weak transcription	Right Ventricle	heart
21	chr5:127800600-127816200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:127800800-127806600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:127800800-127827000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:127801600-127805600	Weak transcription	Placenta	Placenta
25	chr5:127801800-127805800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:127801800-127805800	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:127803000-127805600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:127803000-127805800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:127803000-127810600	Weak transcription	Left Ventricle	heart
30	chr5:127803400-127839200	Weak transcription	Fetal Stomach	stomach
31	chr5:127803800-127806400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:127804000-127806800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:127804600-127806200	Weak transcription	Hela-S3	cervix
34	chr5:127804800-127805800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:127804800-127806400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:127805200-127805800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:127805200-127806000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:127805200-127806200	Genic enhancers	Fetal Heart	heart
39	chr5:127805200-127814200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:127805400-127805800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:127805400-127806200	Strong transcription	Muscle Satellite Cultured Cells	--

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