Variant report

Variant	rs1742867
Chromosome Location	chr14:36537143-36537144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:36530186..36532965-chr14:36536832..36539253,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11156905	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12432682	0.80[ASN][1000 genomes]
rs1333312	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1333313	0.87[ASN][1000 genomes]
rs1742868	0.96[CEU][hapmap];0.83[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1742869	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs1742876	0.99[EUR][1000 genomes]
rs1953119	0.87[ASN][1000 genomes]
rs1957313	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1957314	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2780312	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2780313	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs2780314	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs367883	0.99[EUR][1000 genomes]
rs368181	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs368187	0.81[EUR][1000 genomes]
rs368772	0.99[EUR][1000 genomes]
rs371191	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs375095	0.82[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs381529	0.86[ASN][1000 genomes]
rs394246	0.96[CEU][hapmap]
rs395212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs395660	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs396043	0.99[EUR][1000 genomes]
rs398467	0.94[ASN][1000 genomes]
rs398745	0.96[CEU][hapmap];0.82[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs408558	0.99[ASN][1000 genomes]
rs408783	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs410546	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs429041	0.96[CEU][hapmap];0.99[EUR][1000 genomes]
rs437723	0.96[ASN][1000 genomes]
rs448145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981320	0.99[EUR][1000 genomes]
rs4982332	0.81[ASN][1000 genomes]
rs6571735	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs7145211	0.92[CEU][hapmap]
rs7145546	0.93[CEU][hapmap]
rs7147401	0.96[CEU][hapmap]
rs8003253	0.84[EUR][1000 genomes]
rs8007617	0.83[EUR][1000 genomes]
rs8007774	0.89[ASN][1000 genomes]
rs8008989	0.83[EUR][1000 genomes]
rs8020453	0.82[EUR][1000 genomes]
rs847514	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs847515	0.99[ASN][1000 genomes]
rs847516	0.96[EUR][1000 genomes]
rs860200	0.85[CEU][hapmap]
rs944290	0.87[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1742867	RP11-116N8.4	cis	Thyroid	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36524200-36538200	Weak transcription	Brain Hippocampus Middle	brain
2	chr14:36531000-36538400	Weak transcription	Brain Substantia Nigra	brain
3	chr14:36531400-36538400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:36535400-36537200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:36535400-36537400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:36536400-36538000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:36536600-36537600	Weak transcription	HMEC	breast
8	chr14:36536600-36538200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:36536800-36537200	Weak transcription	NHEK	skin
10	chr14:36537000-36537400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:36537000-36538400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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