Variant report

Variant	rs1348229
Chromosome Location	chr3:19482975-19482976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13092831	0.83[GIH][hapmap];0.92[TSI][hapmap]
rs1348230	0.81[CHD][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1372550	0.82[TSI][hapmap]
rs1470213	0.84[TSI][hapmap]
rs1550560	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1867001	0.82[GIH][hapmap];0.81[LWK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs2197126	0.84[ASW][hapmap]
rs4142701	1.00[YRI][hapmap]
rs4858318	0.88[LWK][hapmap];0.90[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs6549948	1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap]
rs6777740	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6779105	0.84[TSI][hapmap];1.00[YRI][hapmap]
rs6809806	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7611730	0.85[CEU][hapmap]
rs7630677	0.84[TSI][hapmap];1.00[YRI][hapmap]
rs9310596	0.84[ASW][hapmap];0.88[CEU][hapmap];0.82[GIH][hapmap];0.81[LWK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9809140	0.84[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];0.95[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9860121	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9871028	0.84[GIH][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517847	chr3:18845347-19483695	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010123	chr3:18990307-19989504	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1004602	chr3:19031671-19930052	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv536511	chr3:19031671-19930052	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv948636	chr3:19335802-19856585	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv589855	chr3:19409153-19512074	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3386719	chr3:19454588-19895807	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19473000-19491400	Weak transcription	Primary B cells from cord blood	blood
2	chr3:19474400-19513200	Weak transcription	Brain Germinal Matrix	brain
3	chr3:19478800-19487600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr3:19479200-19484400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:19479400-19488000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:19479600-19483000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:19479600-19483600	Strong transcription	Primary B cells from peripheral blood	blood
8	chr3:19480400-19514400	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:19480600-19498400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:19482200-19493400	Weak transcription	Fetal Brain Female	brain
11	chr3:19482800-19483400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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