Variant report

Variant	rs2304513
Chromosome Location	chr3:100645475-100645476
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10049238	1.00[JPT][hapmap]
rs1036468	1.00[JPT][hapmap]
rs10511180	1.00[JPT][hapmap];0.92[MEX][hapmap]
rs12330346	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs1375510	1.00[JPT][hapmap]
rs1436939	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs1449321	1.00[JPT][hapmap]
rs17338729	1.00[ASW][hapmap];1.00[JPT][hapmap]
rs17398137	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1821795	1.00[JPT][hapmap]
rs2245370	1.00[JPT][hapmap]
rs2252229	1.00[JPT][hapmap]
rs2576367	1.00[JPT][hapmap]
rs2576370	1.00[JPT][hapmap]
rs2576384	1.00[JPT][hapmap]
rs2576389	1.00[JPT][hapmap]
rs2576390	1.00[JPT][hapmap]
rs2595899	1.00[JPT][hapmap]
rs2713750	1.00[JPT][hapmap]
rs2713759	1.00[JPT][hapmap]
rs2713762	1.00[JPT][hapmap]
rs28729791	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7355920	0.81[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609734	1.00[JPT][hapmap]
rs7646218	1.00[JPT][hapmap]
rs7647099	1.00[JPT][hapmap];0.84[MEX][hapmap]
rs7651634	1.00[JPT][hapmap];0.84[MEX][hapmap]
rs9653904	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs9822089	1.00[JPT][hapmap]
rs9824648	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9825288	1.00[JPT][hapmap];0.92[MEX][hapmap]
rs9826284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9827075	1.00[JPT][hapmap];0.92[MEX][hapmap]
rs9827694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9831620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9841117	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9844950	0.81[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9847485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9860250	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9862373	1.00[JPT][hapmap];0.92[MEX][hapmap]
rs9866199	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9881388	1.00[JPT][hapmap]

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	nsv514163	chr3:100547342-100670846	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100630200-100673600	Weak transcription	Ovary	ovary
2	chr3:100630400-100647000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:100634400-100646400	Weak transcription	Aorta	Aorta
4	chr3:100634600-100646000	Weak transcription	Fetal Stomach	stomach
5	chr3:100635000-100646600	Weak transcription	NHDF-Ad	bronchial
6	chr3:100635000-100647400	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:100635200-100647600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:100637600-100660000	Weak transcription	HSMMtube	muscle
9	chr3:100640400-100646800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:100641600-100647200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr3:100641600-100659400	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:100641800-100647200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:100644200-100646600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:100645200-100645600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:100645200-100647600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:100645400-100646800	Weak transcription	Osteobl	bone

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