Variant report

Variant	rs6804278
Chromosome Location	chr3:115710593-115710594
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11918028	0.88[ASN][1000 genomes]
rs13086615	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1920388	0.86[ASN][1000 genomes]
rs35764849	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4131452	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4131453	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4240163	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4240164	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4240165	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4240166	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4286426	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4315682	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4378955	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4398428	0.85[ASN][1000 genomes]
rs4399891	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4426677	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4518124	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4599302	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4611819	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4831213	0.83[ASN][1000 genomes]
rs4831215	0.83[ASN][1000 genomes]
rs4831218	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4831219	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4831220	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4831221	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4831222	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4831223	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6438296	0.86[ASN][1000 genomes]
rs6777196	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6787687	0.86[ASN][1000 genomes]
rs6789600	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6790290	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6795318	0.85[ASN][1000 genomes]
rs7625191	0.83[ASN][1000 genomes]
rs7632252	0.85[ASN][1000 genomes]
rs9289033	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9289034	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9813153	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9815418	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9840787	0.94[ASN][1000 genomes]
rs9850406	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9869887	0.86[ASN][1000 genomes]
rs9872913	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9873260	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931948	chr3:114884574-115802562	Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2760762	chr3:115476222-115807650	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv829685	chr3:115643521-115812913	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1012260	chr3:115680931-115935968	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115700600-115711000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:115706000-115713600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:115708400-115710600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:115708600-115715200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:115708800-115710800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:115708800-115715600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:115709000-115710800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:115709000-115711000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:115709400-115710600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:115709600-115710600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:115709600-115715400	Weak transcription	NH-A	brain
12	chr3:115709600-115718000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:115709600-115718000	Weak transcription	HSMM	muscle
14	chr3:115709800-115710800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:115709800-115717800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:115710000-115717800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:115710200-115712600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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