Variant report

Variant	rs1530552
Chromosome Location	chr2:113818120-113818121
allele	G/T
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	FOS	chr2:113818076-113818201	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr2:113818031-113818156	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:113818071-113818201	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr2:113818043-113818178	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr2:113817993-113818199	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113817115..113819025-chr2:113830617..113832382,2	MCF-7	breast:
2	chr2:113808741..113811211-chr2:113813910..113818157,4	K562	blood:
3	chr2:113816411..113818730-chr2:113824215..113826075,2	K562	blood:

Variant related genes	Relation type
IL36RN	TF binding region
ENSG00000136696	Chromatin interaction
ENSG00000136697	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10187916	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10206428	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11123156	0.84[ASN][1000 genomes]
rs12475161	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12475423	0.84[ASN][1000 genomes]
rs12614012	0.84[ASN][1000 genomes]
rs1374285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446508	0.84[ASN][1000 genomes]
rs1446521	0.87[ASN][1000 genomes]
rs1530548	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530550	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530551	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530554	0.84[ASN][1000 genomes]
rs1800930	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1813048	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1867832	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1867833	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1900287	0.84[ASN][1000 genomes]
rs1900288	0.84[ASN][1000 genomes]
rs2100071	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2197578	0.84[ASN][1000 genomes]
rs2218557	0.84[ASN][1000 genomes]
rs2251872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251876	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2252007	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441375	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472187	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472188	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2515391	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2515392	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2515394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515396	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515397	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515398	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515399	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515400	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2515401	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2515402	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2515403	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2515404	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2862775	0.84[ASN][1000 genomes]
rs2862776	0.84[ASN][1000 genomes]
rs2862853	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2862855	0.92[ASN][1000 genomes]
rs3180234	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3180235	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4848311	0.84[ASN][1000 genomes]
rs4849143	0.82[ASN][1000 genomes]
rs4849146	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4849147	0.87[ASN][1000 genomes]
rs6542110	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6724667	0.84[ASN][1000 genomes]
rs6728769	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6733859	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748448	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557928	0.84[ASN][1000 genomes]
rs7567108	0.84[ASN][1000 genomes]
rs7570058	0.84[ASN][1000 genomes]
rs7570159	0.84[ASN][1000 genomes]
rs7570483	0.84[ASN][1000 genomes]
rs7599662	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs768627	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs957201	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9678578	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs990524	0.81[AMR][1000 genomes];0.95[ASN][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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
5	nsv2881	chr2:113800805-113846597	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113814600-113818400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:113816000-113818400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:113817000-113825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:113817200-113819200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:113817400-113821600	Enhancers	Placenta	Placenta
6	chr2:113817600-113826200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:113817800-113818400	Enhancers	NHEK	skin
8	chr2:113817800-113820400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:113818000-113818200	Weak transcription	Esophagus	oesophagus
10	chr2:113818000-113818400	Enhancers	HMEC	breast
11	chr2:113818000-113818800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:113818000-113819000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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