Variant report

Variant	rs2446301
Chromosome Location	chr4:89831275-89831276
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10008568	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs10461165	0.81[CHB][hapmap]
rs1246629	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246631	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246632	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246634	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1246642	0.95[CHB][hapmap];0.88[JPT][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13110699	0.82[AMR][1000 genomes]
rs13149750	0.81[ASN][1000 genomes]
rs1379932	0.85[CHB][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1379933	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1458551	0.90[CHB][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1458562	0.82[CHB][hapmap]
rs1563689	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2045517	0.82[CHB][hapmap]
rs2085600	0.81[CHB][hapmap]
rs2125409	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2446300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2446303	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2446304	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2464520	0.83[ASN][1000 genomes]
rs2464522	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2464523	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2464528	0.95[CHB][hapmap];0.83[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2609255	0.90[CHB][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2609258	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2609259	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2609260	0.81[CHB][hapmap];0.88[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2609261	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2609262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2609264	0.95[CHB][hapmap];0.83[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2609265	0.95[CHB][hapmap];0.83[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2609279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609282	0.83[ASN][1000 genomes]
rs2704570	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704581	0.95[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2704582	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2704583	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2704587	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2704589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs2704604	0.91[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2869952	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2869966	0.82[CHB][hapmap]
rs2869967	0.82[CHB][hapmap]
rs2904255	0.83[ASN][1000 genomes]
rs2904259	0.82[CHB][hapmap]
rs4505789	0.81[ASN][1000 genomes]
rs4693978	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs6813090	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6815970	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6824218	0.83[ASN][1000 genomes]
rs7671167	0.82[CHB][hapmap]
rs7673818	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9997652	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv998651	chr4:89800245-89933445	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	nsv537175	chr4:89800245-89933445	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv879532	chr4:89811195-89917135	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89820000-89859200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr4:89824600-89834000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:89825600-89878400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:89826000-89832600	Weak transcription	Adipose Nuclei	Adipose
5	chr4:89826000-89839600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:89826400-89838400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:89826600-89836200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:89827200-89837400	Weak transcription	Fetal Lung	lung
9	chr4:89827200-89847000	Weak transcription	Placenta	Placenta
10	chr4:89827400-89847000	Weak transcription	Ovary	ovary
11	chr4:89828000-89847000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:89829200-89839400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:89829400-89835600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:89830200-89833400	Weak transcription	Fetal Intestine Small	intestine
15	chr4:89830200-89833400	Weak transcription	Pancreas	Pancrea
16	chr4:89830600-89831400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:89831000-89832200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:89831000-89832200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr4:89831200-89831800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr4:89831200-89832400	Enhancers	Fetal Intestine Large	intestine
21	chr4:89831200-89833000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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