Variant report

Variant	rs4831223
Chromosome Location	chr3:115709116-115709117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11918028	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs13086615	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16824357	0.82[YRI][hapmap]
rs1920388	0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs35764849	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4131452	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4131453	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4240163	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4240164	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4240165	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4240166	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4286426	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4306851	0.83[YRI][hapmap]
rs4306852	0.82[YRI][hapmap]
rs4315682	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4318550	0.82[YRI][hapmap]
rs4373060	0.82[YRI][hapmap]
rs4378955	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4398428	1.00[CHB][hapmap];0.93[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4399891	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4426677	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4518124	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4599302	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4611819	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4831213	0.83[ASN][1000 genomes]
rs4831215	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4831218	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4831219	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4831220	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4831221	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4831222	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6438296	0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs6777196	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6787687	0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs6789600	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6790290	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6795318	0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs6804278	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6807809	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs72957787	0.87[AFR][1000 genomes]
rs7625191	0.94[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7632252	0.85[ASN][1000 genomes]
rs9289033	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9289034	0.87[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs9813153	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9815418	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9833319	0.83[EUR][1000 genomes]
rs9840787	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9850406	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9869887	0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs9872913	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9873260	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];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:28 , 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	chr3:115705400-115709400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:115706000-115713600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:115707600-115709800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:115708000-115709600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:115708200-115709600	Enhancers	NHDF-Ad	bronchial
7	chr3:115708400-115709200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:115708400-115709600	Enhancers	HSMM	muscle
9	chr3:115708400-115709600	Enhancers	HSMMtube	muscle
10	chr3:115708400-115709600	Enhancers	NH-A	brain
11	chr3:115708400-115709600	Enhancers	Osteobl	bone
12	chr3:115708400-115709800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:115708400-115710600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:115708600-115709200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:115708600-115709400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:115708600-115709400	Enhancers	Brain Anterior Caudate	brain
17	chr3:115708600-115709600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:115708600-115715200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:115708800-115709200	Enhancers	NHEK	skin
20	chr3:115708800-115709600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:115708800-115710800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:115708800-115715600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:115709000-115710000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr3:115709000-115710000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:115709000-115710200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:115709000-115710200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:115709000-115710800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr3:115709000-115711000	Enhancers	HUES64 Cell Line	embryonic stem cell

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