Variant report

Variant	rs567993
Chromosome Location	chr4:28484389-28484390
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:28483941..28485986-chr4:28487404..28488989,2	K562	blood:
2	chr4:28483452..28487080-chr4:28487262..28490547,3	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10021733	0.82[ASN][1000 genomes]
rs12501893	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12505899	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12641531	0.82[ASN][1000 genomes]
rs12648642	0.82[ASN][1000 genomes]
rs1303816	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1303817	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1303818	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1303819	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123915	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13125329	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13132764	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13147296	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493150	0.82[ASN][1000 genomes]
rs1514126	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1514128	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1514129	0.82[ASN][1000 genomes]
rs167104	0.90[ASN][1000 genomes]
rs1708967	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs182378	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2221775	1.00[ASN][1000 genomes]
rs2248575	0.82[ASN][1000 genomes]
rs2458606	0.90[ASN][1000 genomes]
rs2458607	0.90[ASN][1000 genomes]
rs2458608	0.90[ASN][1000 genomes]
rs2458613	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2458614	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2458616	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2458617	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2458618	0.90[ASN][1000 genomes]
rs2458619	0.82[ASN][1000 genomes]
rs2458624	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2458626	0.82[ASN][1000 genomes]
rs2458627	0.82[ASN][1000 genomes]
rs2458628	0.82[ASN][1000 genomes]
rs2458630	0.82[ASN][1000 genomes]
rs2471685	0.82[ASN][1000 genomes]
rs2471687	0.82[ASN][1000 genomes]
rs2471689	0.82[ASN][1000 genomes]
rs2471690	0.82[ASN][1000 genomes]
rs2471691	0.82[ASN][1000 genomes]
rs2471692	0.82[ASN][1000 genomes]
rs2471703	0.82[ASN][1000 genomes]
rs2471705	0.82[ASN][1000 genomes]
rs2471707	0.82[ASN][1000 genomes]
rs2471709	0.82[ASN][1000 genomes]
rs2471710	0.82[ASN][1000 genomes]
rs2471711	0.82[ASN][1000 genomes]
rs2471715	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2471717	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2471718	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2471719	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2471720	0.90[ASN][1000 genomes]
rs2471721	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2666117	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28406281	0.82[ASN][1000 genomes]
rs28645352	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292014	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs292034	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292049	1.00[ASN][1000 genomes]
rs292055	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292057	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292060	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292066	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs292068	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs292071	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs292072	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292076	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292078	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292079	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292082	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292084	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292085	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2943155	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2943156	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2943157	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2943158	0.90[ASN][1000 genomes]
rs2943160	0.82[ASN][1000 genomes]
rs2960592	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2995111	0.90[ASN][1000 genomes]
rs4234996	0.82[ASN][1000 genomes]
rs4234997	0.82[ASN][1000 genomes]
rs4280716	0.82[ASN][1000 genomes]
rs4367162	0.82[ASN][1000 genomes]
rs4377578	0.82[ASN][1000 genomes]
rs4605640	0.82[ASN][1000 genomes]
rs4692334	0.82[ASN][1000 genomes]
rs4692335	0.82[ASN][1000 genomes]
rs542264	1.00[ASN][1000 genomes]
rs55684803	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs557255	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs569100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569708	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs611376	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666451	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs673272	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687535	1.00[ASN][1000 genomes]
rs7655105	0.82[ASN][1000 genomes]
rs7672198	0.82[ASN][1000 genomes]
rs7695696	0.82[ASN][1000 genomes]
rs7698467	0.82[ASN][1000 genomes]
rs9784504	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010133	chr4:28273244-28642942	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1014938	chr4:28277683-28642942	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:28476600-28484400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:28481800-28485600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:28481800-28492200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:28482000-28484400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:28482000-28484400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:28482600-28484600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr4:28482600-28484600	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr4:28482600-28485800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:28483000-28484600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:28483000-28484800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:28483200-28484400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:28483400-28484800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:28483400-28484800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr4:28484000-28492000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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