Variant report

Variant	rs1333312
Chromosome Location	chr14:36562602-36562603
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	chr14:36560154..36563074-chr14:36570402..36572579,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10220323	0.90[ASN][1000 genomes]
rs11156905	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11622885	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11623102	0.86[ASN][1000 genomes]
rs12432682	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12890957	0.84[ASN][1000 genomes]
rs12896537	0.84[ASN][1000 genomes]
rs1333313	0.99[ASN][1000 genomes]
rs1467794	0.81[EUR][1000 genomes]
rs1742867	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1742868	0.82[EUR][1000 genomes]
rs1742876	0.82[EUR][1000 genomes]
rs1952710	0.86[ASN][1000 genomes]
rs1953119	0.99[ASN][1000 genomes]
rs1953120	0.84[EUR][1000 genomes]
rs1957313	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1957314	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2415312	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2780312	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2780314	0.85[ASN][1000 genomes]
rs34232378	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34613409	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs367883	0.81[EUR][1000 genomes]
rs368181	0.81[EUR][1000 genomes]
rs368772	0.82[EUR][1000 genomes]
rs371191	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs375095	0.81[EUR][1000 genomes]
rs381529	0.81[ASN][1000 genomes]
rs395212	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs395660	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs396043	0.82[EUR][1000 genomes]
rs398467	0.92[ASN][1000 genomes]
rs398745	0.83[EUR][1000 genomes]
rs408558	0.87[ASN][1000 genomes]
rs408783	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs410546	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs429041	0.82[EUR][1000 genomes]
rs437723	0.88[ASN][1000 genomes]
rs448145	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4981320	0.82[EUR][1000 genomes]
rs4982332	0.86[ASN][1000 genomes]
rs6571735	0.96[EUR][1000 genomes]
rs8003253	0.95[EUR][1000 genomes]
rs8007617	0.95[EUR][1000 genomes]
rs8007774	0.94[ASN][1000 genomes]
rs8008989	0.95[EUR][1000 genomes]
rs8020453	0.99[EUR][1000 genomes]
rs847514	0.88[ASN][1000 genomes]
rs847515	0.87[ASN][1000 genomes]
rs944290	0.99[ASN][1000 genomes]
rs950319	0.81[EUR][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	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	nsv1051147	chr14:36413342-36562863	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1333312	RP11-116N8.4	cis	Thyroid	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36560800-36563000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:36560800-36565600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:36561000-36565200	Weak transcription	NHEK	skin
4	chr14:36561000-36565400	Weak transcription	HMEC	breast
5	chr14:36561000-36565600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:36561600-36564800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:36561600-36565200	Weak transcription	NHDF-Ad	bronchial

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