Variant report

Variant	rs685130
Chromosome Location	chr1:86461538-86461539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1027819	1.00[EUR][1000 genomes]
rs10493784	1.00[EUR][1000 genomes]
rs11806099	1.00[EUR][1000 genomes]
rs1507291	1.00[EUR][1000 genomes]
rs17128351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128439	1.00[EUR][1000 genomes]
rs17128868	1.00[EUR][1000 genomes]
rs41416248	1.00[EUR][1000 genomes]
rs4269793	1.00[EUR][1000 genomes]
rs476831	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs483191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs490335	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs555277	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs569761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57475826	1.00[EUR][1000 genomes]
rs580994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs581018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs582163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs586685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59856126	1.00[EUR][1000 genomes]
rs60535581	1.00[EUR][1000 genomes]
rs615325	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs624321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs626047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs628440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs639814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6666498	1.00[EUR][1000 genomes]
rs74097671	1.00[EUR][1000 genomes]
rs74097690	1.00[EUR][1000 genomes]
rs74097691	1.00[EUR][1000 genomes]
rs74097692	1.00[EUR][1000 genomes]
rs74097697	1.00[EUR][1000 genomes]
rs74100814	1.00[EUR][1000 genomes]
rs7516144	1.00[EUR][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	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv462406	chr1:86412177-86509996	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546757	chr1:86412177-86509996	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv546758	chr1:86438327-86483632	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1012808	chr1:86455710-86470489	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86449400-86466200	Weak transcription	Fetal Lung	lung
2	chr1:86456200-86464600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:86459000-86462400	Enhancers	Primary hematopoietic stem cells	blood
4	chr1:86459200-86463600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:86459200-86472000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:86459200-86472200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:86460800-86461800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:86460800-86463800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:86461200-86461600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:86461400-86461600	Enhancers	GM12878-XiMat	blood

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