Variant report

Variant	rs4683786
Chromosome Location	chr3:139729254-139729255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139721983..139724964-chr3:139726808..139729400,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12491613	0.92[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs1426027	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1426028	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1426034	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16849630	0.92[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs16849640	0.92[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs16849687	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16849696	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs16849705	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16849709	1.00[JPT][hapmap]
rs16849713	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16849718	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16849739	0.81[JPT][hapmap]
rs16849742	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4629291	0.86[JPT][hapmap]
rs4683469	0.81[JPT][hapmap]
rs4683473	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4683474	1.00[JPT][hapmap]
rs4683774	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4683792	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4683793	0.83[JPT][hapmap]
rs72981830	0.87[ASN][1000 genomes]
rs72981832	0.87[ASN][1000 genomes]
rs72981851	0.83[ASN][1000 genomes]
rs72981859	0.82[ASN][1000 genomes]
rs72981861	0.82[ASN][1000 genomes]
rs72981889	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv530058	chr3:139243971-139814419	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv998423	chr3:139526446-139947336	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv829738	chr3:139670836-139851945	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139714400-139741200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:139722200-139733400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:139725600-139731000	Weak transcription	Fetal Brain Male	brain
4	chr3:139726800-139731400	Weak transcription	HSMMtube	muscle
5	chr3:139727600-139737200	Weak transcription	Ovary	ovary
6	chr3:139727800-139731200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:139727800-139731800	Weak transcription	Brain Angular Gyrus	brain
8	chr3:139727800-139733600	Weak transcription	Pancreas	Pancrea
9	chr3:139728000-139729400	Weak transcription	Brain Germinal Matrix	brain
10	chr3:139728000-139731800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:139728200-139731200	Weak transcription	Fetal Brain Female	brain
12	chr3:139728200-139731400	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:139729200-139729400	Enhancers	Psoas Muscle	Psoas

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