Variant report

Variant	rs6730994
Chromosome Location	chr2:182310682-182310683
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10153755	1.00[AMR][1000 genomes]
rs10180793	1.00[AMR][1000 genomes]
rs10206693	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1026401	1.00[AMR][1000 genomes]
rs1037623	1.00[AMR][1000 genomes]
rs13415157	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13423639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1348124	1.00[AMR][1000 genomes]
rs1375489	1.00[AMR][1000 genomes]
rs1449258	1.00[AMR][1000 genomes]
rs1466110	1.00[AMR][1000 genomes]
rs155117	1.00[AMR][1000 genomes]
rs155118	1.00[AMR][1000 genomes]
rs2198730	1.00[AMR][1000 genomes]
rs2368214	1.00[AMR][1000 genomes]
rs3731835	1.00[YRI][hapmap]
rs3863936	1.00[AMR][1000 genomes]
rs3910673	1.00[AMR][1000 genomes]
rs57055225	1.00[AMR][1000 genomes]
rs6706626	1.00[AMR][1000 genomes]
rs73974897	1.00[AMR][1000 genomes]
rs9653241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182308800-182310800	Enhancers	Fetal Thymus	thymus
2	chr2:182309400-182311600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:182309600-182311200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:182309600-182312000	Weak transcription	Primary T cells from cord blood	blood
5	chr2:182310000-182311000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:182310000-182311000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:182310000-182311600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:182310200-182311400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:182310200-182313400	Enhancers	Dnd41	blood
10	chr2:182310600-182311000	Enhancers	Thymus	Thymus

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