Variant report

Variant	rs1541938
Chromosome Location	chr11:5578438-5578439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr11:5578058-5578447	K562	blood:	n/a	chr11:5578315-5578326

No.	Distal block	Cell Line	Cell type
1	11:5250847-5268367..11:5571131-5578892	K562	blood:
2	chr11:5527022..5529491-chr11:5577103..5579456,2	K562	blood:
3	chr11:5577515..5579353-chr11:5616024..5618280,2	MCF-7	breast:

Variant related genes	Relation type
OR52B5P	TF binding region
OR52H2P	TF binding region
ENSG00000258588	Chromatin interaction
ENSG00000260629	Chromatin interaction
ENSG00000121236	Chromatin interaction
ENSG00000229988	Chromatin interaction
ENSG00000223609	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10769061	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13328868	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1368695	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368696	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368697	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498479	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541936	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1541937	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541939	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1694674	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1694676	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874828	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341423	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341424	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341425	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341426	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2436705	0.98[ASN][1000 genomes]
rs2436706	0.98[ASN][1000 genomes]
rs2647602	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs368019	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs368824	0.99[ASN][1000 genomes]
rs369848	0.99[ASN][1000 genomes]
rs369879	0.99[ASN][1000 genomes]
rs371761	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380372	0.90[ASN][1000 genomes]
rs382979	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs385925	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs396341	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs400036	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs401426	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405680	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407487	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs407807	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408362	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408409	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408897	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411933	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs417272	0.99[ASN][1000 genomes]
rs417854	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs418125	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs423501	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424299	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243961	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243962	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs429957	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430197	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430769	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431117	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431409	0.99[ASN][1000 genomes]
rs432090	0.99[ASN][1000 genomes]
rs434320	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434777	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437746	0.99[ASN][1000 genomes]
rs445586	0.99[ASN][1000 genomes]
rs445728	0.99[ASN][1000 genomes]
rs446099	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586967	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6578658	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107218	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115987	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119060	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7121082	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7121765	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932841	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7951442	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666981	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9666982	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv896940	chr11:5535007-5582430	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
6	nsv825738	chr11:5578174-5579186	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv999321	chr11:5578174-5579208	Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5563600-5582400	Weak transcription	Aorta	Aorta
2	chr11:5577600-5578600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr11:5577800-5578600	Enhancers	K562	blood
4	chr11:5578000-5578600	Enhancers	Adipose Nuclei	Adipose
5	chr11:5578000-5578800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr11:5578200-5578800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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