Variant report

Variant	rs10078980
Chromosome Location	chr5:42281035-42281036
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	chr5:42275847..42277398-chr5:42279299..42281970,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10054119	0.82[ASN][1000 genomes]
rs10075533	0.80[AFR][1000 genomes]
rs10077196	0.80[AFR][1000 genomes]
rs10461736	0.97[ASN][1000 genomes]
rs10462034	0.84[ASN][1000 genomes]
rs1119855	0.87[AMR][1000 genomes]
rs12153093	0.97[ASN][1000 genomes]
rs12514243	0.83[AMR][1000 genomes]
rs12517161	0.83[AMR][1000 genomes]
rs12517869	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12519296	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12520405	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12522095	0.83[AMR][1000 genomes]
rs13189999	0.91[ASN][1000 genomes]
rs1393017	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1393018	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1501515	0.81[AMR][1000 genomes]
rs16872537	1.00[EUR][1000 genomes]
rs16872543	1.00[EUR][1000 genomes]
rs1909950	0.83[AMR][1000 genomes]
rs28943877	1.00[EUR][1000 genomes]
rs35707555	0.84[ASN][1000 genomes]
rs36072701	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4305644	0.84[ASN][1000 genomes]
rs4866795	1.00[EUR][1000 genomes]
rs4866812	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4866896	1.00[EUR][1000 genomes]
rs4866901	1.00[EUR][1000 genomes]
rs6861819	0.84[ASN][1000 genomes]
rs6882434	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6882555	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6886712	0.80[AFR][1000 genomes]
rs6887373	1.00[EUR][1000 genomes]
rs6887391	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6887759	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6888449	0.91[ASN][1000 genomes]
rs73091966	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73091974	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7379247	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7380353	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7380870	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs949559	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9654394	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1034208	chr5:42119128-42290759	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1825573	chr5:42229421-42306381	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv880518	chr5:42231896-42375243	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv881000	chr5:42254097-42300305	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv881090	chr5:42254097-42307714	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv881375	chr5:42254097-42442715	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42280000-42284600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:42280600-42287600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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