Variant report

Variant	rs1806338
Chromosome Location	chr2:208966419-208966420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:208966122..208966972-chr2:209118729..209119251,2	MCF-7	breast:
2	chr2:208966384..208967489-chr2:209118693..209119619,6	MCF-7	breast:
3	chr2:208965617..208968343-chr2:209118826..209120750,2	MCF-7	breast:
4	chr2:208966373..208967393-chr2:209119818..209120821,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138413	Chromatin interaction
ENSG00000231908	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10178641	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10188278	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10188286	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10192276	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10198963	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1020581	0.93[ASN][1000 genomes]
rs10497893	0.96[ASN][1000 genomes]
rs11677829	0.89[ASN][1000 genomes]
rs11684908	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11690797	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12988963	0.90[EUR][1000 genomes]
rs13006347	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13008550	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13034094	0.93[ASN][1000 genomes]
rs2084872	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34126491	0.88[ASN][1000 genomes]
rs34274138	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34577840	0.93[ASN][1000 genomes]
rs34589201	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34765959	0.93[ASN][1000 genomes]
rs35934862	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35960349	0.94[ASN][1000 genomes]
rs55770589	0.93[ASN][1000 genomes]
rs55999272	0.87[ASN][1000 genomes]
rs60163320	0.93[ASN][1000 genomes]
rs6435407	0.91[ASN][1000 genomes]
rs6435411	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6709879	0.93[ASN][1000 genomes]
rs6713275	0.90[EUR][1000 genomes]
rs6716279	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6728327	0.90[EUR][1000 genomes]
rs6744189	0.91[ASN][1000 genomes]
rs6745137	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6745370	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6747966	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6751131	0.90[ASN][1000 genomes]
rs6757791	0.90[ASN][1000 genomes]
rs6758319	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6759995	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6761316	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67900982	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs732008	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs732009	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7349197	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7586866	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7586953	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7587397	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7589556	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7590593	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7604207	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875744	chr2:208952810-208994045	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:208962400-208968600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:208964600-208966600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:208964600-208967400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:208964800-208966600	Enhancers	Primary T cells from cord blood	blood
5	chr2:208964800-208966800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:208964800-208966800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:208964800-208967000	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:208964800-208967000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:208965000-208976600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:208965600-208966800	Enhancers	Fetal Thymus	thymus
11	chr2:208966000-208967400	Enhancers	Dnd41	blood
12	chr2:208966400-208966600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:208966400-208966600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:208966400-208966800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:208966400-208966800	Enhancers	A549	lung
16	chr2:208966400-208966800	Enhancers	HepG2	liver

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