Variant report

Variant	rs4680993
Chromosome Location	chr3:78555930-78555931
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11709736	0.82[ASN][1000 genomes]
rs11713403	0.82[ASN][1000 genomes]
rs11721300	0.82[ASN][1000 genomes]
rs11916084	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13079422	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13079826	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13098427	0.82[ASN][1000 genomes]
rs1444482	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1444483	0.99[ASN][1000 genomes]
rs1596609	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1596610	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1822711	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1822712	0.82[ASN][1000 genomes]
rs2028740	0.82[ASN][1000 genomes]
rs2120703	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2120704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4302345	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4342073	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4555484	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4680932	0.87[AMR][1000 genomes]
rs4680933	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680990	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4680991	0.82[ASN][1000 genomes]
rs4680992	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4680994	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4680995	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4680996	0.94[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs62256689	0.82[ASN][1000 genomes]
rs6548570	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6548574	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6548575	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6548576	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6548577	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6548578	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6548581	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6772687	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6793939	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6798454	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6798540	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6806585	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6808324	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs726722	0.82[ASN][1000 genomes]
rs7614720	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7623401	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7641163	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9309805	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9631522	0.84[ASN][1000 genomes]
rs9631523	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9681670	0.80[AMR][1000 genomes]
rs9809403	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9822941	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9835912	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9843660	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9846994	0.82[ASN][1000 genomes]
rs9852892	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9857473	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9864442	0.82[ASN][1000 genomes]
rs991942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[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	nsv877017	chr3:77881397-78670654	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv529995	chr3:78188643-78739698	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1008156	chr3:78444137-78765884	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv834743	chr3:78494263-78663600	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1010650	chr3:78505564-78699161	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78551000-78557000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:78555000-78556400	Enhancers	Hela-S3	cervix
3	chr3:78555000-78557000	Enhancers	HSMM	muscle
4	chr3:78555200-78556800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:78555200-78556800	Enhancers	NH-A	brain
6	chr3:78555200-78557800	Enhancers	Liver	Liver
7	chr3:78555400-78556200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:78555400-78556200	Enhancers	HepG2	liver
9	chr3:78555400-78556600	Enhancers	HSMMtube	muscle
10	chr3:78555400-78557000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:78555400-78557400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:78555400-78559200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:78555600-78556400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:78555600-78556600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:78555600-78556800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr3:78555600-78557000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:78555600-78557800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:78555800-78556600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:78555800-78556600	Enhancers	Fetal Heart	heart
20	chr3:78555800-78556600	Enhancers	Fetal Kidney	kidney
21	chr3:78555800-78556800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:78555800-78556800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:78555800-78556800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr3:78555800-78557000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:78555800-78557000	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links