Variant report

Variant	rs487623
Chromosome Location	chr3:100963761-100963762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13089177	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13089552	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2317749	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2433031	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2553416	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2553427	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2553430	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2682386	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs348866	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs348869	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4683900	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs473702	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs497953	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs503734	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs508537	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs533852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9816469	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9859077	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs9870114	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.95[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	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
2	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2754039	chr3:100882310-100981310	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3439278	chr3:100936513-101162102	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr3:100942200-100967400	Weak transcription	HSMMtube	muscle
2	chr3:100950600-100964600	Weak transcription	Right Ventricle	heart
3	chr3:100954800-100992600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:100955000-100994000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr3:100958800-101012800	Weak transcription	Left Ventricle	heart
6	chr3:100959800-100965200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:100960400-100967800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:100960400-100971200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:100961000-100967400	Weak transcription	Fetal Stomach	stomach
10	chr3:100961600-100969200	Weak transcription	Pancreas	Pancrea
11	chr3:100962800-100970800	Weak transcription	Aorta	Aorta
12	chr3:100963000-100967800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:100963200-100967600	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:100963200-100972000	Weak transcription	Primary T cells from cord blood	blood
15	chr3:100963400-100964600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:100963400-100971800	Weak transcription	HSMM	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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