Variant report

Variant	rs4902477
Chromosome Location	chr14:67989097-67989098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67980728..67983271-chr14:67988710..67990782,2	K562	blood:
2	chr14:67980390..67986275-chr14:67988226..67995787,13	MCF-7	breast:
3	chr14:67984380..67986731-chr14:67988882..67991536,2	K562	blood:
4	chr14:67987684..67990442-chr14:67994262..67996586,2	MCF-7	breast:
5	chr14:67987540..67990251-chr14:68039422..68041358,2	K562	blood:
6	chr14:67988568..67991154-chr14:67998353..68000955,2	MCF-7	breast:
7	chr14:67987004..67989487-chr14:67998534..68000627,2	K562	blood:

Variant related genes	Relation type
ENSG00000054690	Chromatin interaction
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10130096	0.92[CEU][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10133618	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134444	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10143518	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873204	0.84[ASN][1000 genomes]
rs11158675	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158676	0.84[ASN][1000 genomes]
rs11158677	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158678	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11621977	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627207	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878949	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12878981	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12879556	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12887115	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1555397	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555398	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555399	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980614	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273596	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6573776	0.91[JPT][hapmap]
rs7140327	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140470	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144333	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144624	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154258	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7155830	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7155911	0.81[YRI][hapmap];0.82[ASN][1000 genomes]
rs7156144	0.82[ASN][1000 genomes]
rs7160654	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160944	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161368	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011307	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8019176	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019974	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67982600-67999000	Weak transcription	Right Atrium	heart
2	chr14:67987000-67989200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:67988000-67991000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:67988600-67989400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:67988800-67989600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:67988800-67991600	Enhancers	Brain Cingulate Gyrus	brain
7	chr14:67988800-67991600	Enhancers	Brain Hippocampus Middle	brain
8	chr14:67989000-67989200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:67989000-67989200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr14:67989000-67989200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:67989000-67989400	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr14:67989000-67989400	Flanking Active TSS	Brain Substantia Nigra	brain
13	chr14:67989000-67989600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:67989000-67989600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:67989000-67991200	Enhancers	Brain Anterior Caudate	brain
16	chr14:67989000-67991600	Enhancers	Brain Inferior Temporal Lobe	brain

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