Variant report

Variant	rs11850186
Chromosome Location	chr14:104393200-104393201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104391863..104393842-chr14:104396870..104399828,2	K562	blood:
2	chr14:104391843..104393363-chr14:104396413..104398370,2	K562	blood:
3	chr14:104387638..104390416-chr14:104390451..104394175,4	K562	blood:
4	chr14:104391025..104393220-chr14:104438159..104440643,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156411	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10132127	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10132153	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10134394	0.84[EUR][1000 genomes]
rs10135296	0.84[EUR][1000 genomes]
rs10135338	0.85[EUR][1000 genomes]
rs10135507	0.86[EUR][1000 genomes]
rs10137997	0.86[EUR][1000 genomes]
rs10143030	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10143389	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10144682	0.85[EUR][1000 genomes]
rs10147923	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10149233	0.86[EUR][1000 genomes]
rs10149734	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1018535	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10220464	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10467890	0.83[EUR][1000 genomes]
rs10782497	0.82[EUR][1000 genomes]
rs11160777	0.83[EUR][1000 genomes]
rs11160779	0.86[EUR][1000 genomes]
rs11160780	0.85[EUR][1000 genomes]
rs11847797	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11849423	0.80[EUR][1000 genomes]
rs11851097	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11851441	0.86[EUR][1000 genomes]
rs11851723	0.85[EUR][1000 genomes]
rs12100528	0.84[EUR][1000 genomes]
rs12147460	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12147828	0.84[EUR][1000 genomes]
rs12147936	0.87[EUR][1000 genomes]
rs1309320	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1957517	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1957518	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2208431	0.83[EUR][1000 genomes]
rs28377615	0.85[EUR][1000 genomes]
rs28391043	0.87[EUR][1000 genomes]
rs28461376	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28522352	0.85[EUR][1000 genomes]
rs28574832	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28644198	0.85[EUR][1000 genomes]
rs28725314	0.86[EUR][1000 genomes]
rs4900604	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4900605	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4900608	0.85[EUR][1000 genomes]
rs4906387	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4906392	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4906396	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4906397	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4906399	0.87[EUR][1000 genomes]
rs4906401	0.84[EUR][1000 genomes]
rs4906402	0.84[EUR][1000 genomes]
rs4906408	0.85[EUR][1000 genomes]
rs4906409	0.85[EUR][1000 genomes]
rs55938939	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58289480	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61244535	0.85[EUR][1000 genomes]
rs61248168	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61319604	0.84[EUR][1000 genomes]
rs7144813	0.81[EUR][1000 genomes]
rs7147107	0.83[EUR][1000 genomes]
rs7148877	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7158223	0.83[EUR][1000 genomes]
rs72712884	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72712889	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72712900	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72714904	0.84[EUR][1000 genomes]
rs72714909	0.86[EUR][1000 genomes]
rs72714937	0.82[EUR][1000 genomes]
rs8008510	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8009349	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8010286	0.87[EUR][1000 genomes]
rs8014546	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8022833	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs877009	0.81[EUR][1000 genomes]
rs9285602	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9324068	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9324069	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9944163	0.84[EUR][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	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
7	nsv1048353	chr14:104361402-104483286	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv902322	chr14:104365310-104464809	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv902323	chr14:104381687-104464809	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11850186	DCTN5	trans	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104388200-104393800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:104390200-104395400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr14:104392200-104395200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr14:104392400-104395600	Weak transcription	HepG2	liver

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