Variant report

Variant	rs35776217
Chromosome Location	chr5:127793112-127793113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1000488	0.84[ASN][1000 genomes]
rs11738659	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11741832	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11742635	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13155917	0.82[ASN][1000 genomes]
rs13177608	0.80[ASN][1000 genomes]
rs13177978	0.80[ASN][1000 genomes]
rs13179424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13180029	0.86[ASN][1000 genomes]
rs13180243	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13181926	0.80[ASN][1000 genomes]
rs13182859	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13190457	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1561004	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17677069	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17677346	0.84[ASN][1000 genomes]
rs17677555	0.84[ASN][1000 genomes]
rs2017775	0.84[ASN][1000 genomes]
rs34250874	0.84[ASN][1000 genomes]
rs34628042	0.84[ASN][1000 genomes]
rs34722489	0.82[ASN][1000 genomes]
rs34797235	0.84[ASN][1000 genomes]
rs34806389	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3805651	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3805653	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3828661	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62390664	0.80[ASN][1000 genomes]
rs62390668	0.80[ASN][1000 genomes]
rs62390670	0.80[ASN][1000 genomes]
rs62391604	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62391614	0.84[ASN][1000 genomes]
rs62391642	0.84[ASN][1000 genomes]
rs62391643	0.84[ASN][1000 genomes]
rs66968874	0.80[ASN][1000 genomes]
rs72785142	0.88[ASN][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	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

No data

Chromatin state (count:36 , 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	chr5:127772800-127799800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:127773000-127809400	Weak transcription	HMEC	breast
4	chr5:127773400-127830000	Weak transcription	NHEK	skin
5	chr5:127779400-127807400	Weak transcription	Fetal Kidney	kidney
6	chr5:127780400-127806400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:127780800-127805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:127782400-127796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:127784000-127795000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr5:127784000-127826800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:127786000-127797800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:127786400-127799000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:127787200-127798200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:127787400-127806200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:127788800-127810600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:127789000-127793200	Enhancers	Fetal Stomach	stomach
17	chr5:127789400-127794200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:127789600-127802800	Weak transcription	Left Ventricle	heart
19	chr5:127790600-127793800	Enhancers	Fetal Heart	heart
20	chr5:127790600-127802200	Weak transcription	Fetal Lung	lung
21	chr5:127791400-127793600	Weak transcription	Fetal Intestine Small	intestine
22	chr5:127791600-127793600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:127792200-127798200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:127792200-127807000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:127792200-127808200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:127792400-127794800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:127792400-127798600	Weak transcription	Placenta	Placenta
28	chr5:127792400-127799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:127792400-127799800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr5:127792400-127812400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:127792600-127797200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:127792600-127799200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:127792800-127797400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr5:127792800-127805800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr5:127793000-127793200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:127793000-127794800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links