Variant report

Variant	rs2553575
Chromosome Location	chr14:36736344-36736345
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:36733892..36736595-chr14:36737409..36740158,4	K562	blood:
2	chr10:69141438..69142223-chr14:36735859..36736731,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10133125	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10139030	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11156909	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11558802	0.88[EUR][1000 genomes]
rs11844502	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12890888	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12897795	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2415332	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2415335	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2415339	0.93[EUR][1000 genomes]
rs2899849	0.88[EUR][1000 genomes]
rs3168891	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3762904	0.88[EUR][1000 genomes]
rs3805352	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3805353	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3805354	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3805355	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3842844	0.90[EUR][1000 genomes]
rs3844012	0.90[EUR][1000 genomes]
rs3844013	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3850257	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3850258	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3850259	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3850260	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3850267	0.85[EUR][1000 genomes]
rs3850268	0.85[EUR][1000 genomes]
rs3861477	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3861481	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3909608	0.85[EUR][1000 genomes]
rs3909615	0.82[EUR][1000 genomes]
rs4083518	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4127807	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4378535	0.84[EUR][1000 genomes]
rs4898561	0.82[EUR][1000 genomes]
rs4898563	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4898597	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4898598	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4900716	0.82[EUR][1000 genomes]
rs4900717	0.82[EUR][1000 genomes]
rs4900732	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4900733	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4900790	0.82[EUR][1000 genomes]
rs4900833	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4900924	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4901456	0.90[EUR][1000 genomes]
rs4901597	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6571742	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7140630	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7141354	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7142835	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7142956	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7146921	0.90[EUR][1000 genomes]
rs7154340	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7155498	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7157811	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7159366	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8013261	0.82[EUR][1000 genomes]
rs9788479	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051045	chr14:36116503-36764947	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv542038	chr14:36116503-36764947	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1041441	chr14:36545463-36756347	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv542041	chr14:36545463-36756347	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
8	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	esv3429093	chr14:36674701-36827119	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv3367425	chr14:36674721-36827089	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1042408	chr14:36693910-36810554	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv542043	chr14:36693910-36810554	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36720000-36736600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:36735400-36736600	Enhancers	K562	blood
3	chr14:36736200-36736800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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