Variant report

Variant	rs1828835
Chromosome Location	chr8:55015464-55015465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr8:55014447-55015485	K562	blood:	n/a	chr8:55014618-55014633 chr8:55014622-55014634 chr8:55014619-55014633 chr8:55015179-55015194 chr8:55014618-55014633
2	CBX3	chr8:55014325-55015500	K562	blood:	n/a	n/a
3	POLR2A	chr8:55013716-55015487	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr8:55013724-55016035	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:55014583..55016959-chr8:55047205..55048947,2	K562	blood:
2	chr8:54929833..54936668-chr8:55008421..55016367,12	K562	blood:
3	chr8:55012569..55016203-chr8:55046168..55049938,7	MCF-7	breast:
4	chr8:54931365..54936825-chr8:55013053..55016452,9	MCF-7	breast:
5	chr8:55012350..55016130-chr8:55063151..55067016,6	K562	blood:
6	chr20:45946400..45948172-chr8:55014333..55016301,2	MCF-7	breast:

Variant related genes	Relation type
LYPLA1	TF binding region
ENSG00000101040	Chromatin interaction
ENSG00000137547	Chromatin interaction
ENSG00000251835	Chromatin interaction
ENSG00000267882	Chromatin interaction
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10101097	0.86[ASN][1000 genomes]
rs10113246	0.82[ASN][1000 genomes]
rs1050523	0.83[ASN][1000 genomes]
rs10958396	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11986577	0.82[ASN][1000 genomes]
rs11993367	0.89[ASN][1000 genomes]
rs11994629	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996128	0.89[EUR][1000 genomes]
rs11996666	0.85[ASN][1000 genomes]
rs11997954	0.85[ASN][1000 genomes]
rs12056381	0.85[ASN][1000 genomes]
rs12674671	0.85[ASN][1000 genomes]
rs12674895	0.89[EUR][1000 genomes]
rs12676510	0.81[ASN][1000 genomes]
rs12679103	0.90[EUR][1000 genomes]
rs2037068	0.89[ASN][1000 genomes]
rs2271567	0.92[EUR][1000 genomes]
rs2292590	0.92[EUR][1000 genomes]
rs2375696	0.90[EUR][1000 genomes]
rs2375697	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28494618	0.84[ASN][1000 genomes]
rs28573859	0.84[EUR][1000 genomes]
rs34997387	0.84[EUR][1000 genomes]
rs4440612	0.84[ASN][1000 genomes]
rs4506187	0.89[ASN][1000 genomes]
rs4515510	0.84[ASN][1000 genomes]
rs4737457	0.89[ASN][1000 genomes]
rs4737479	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737485	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737487	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4737488	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738519	0.84[ASN][1000 genomes]
rs4738556	0.85[ASN][1000 genomes]
rs4738586	0.84[ASN][1000 genomes]
rs57872947	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58387069	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58419852	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58929175	0.85[ASN][1000 genomes]
rs58948369	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59882028	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60183530	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61213253	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61271559	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61319412	0.85[ASN][1000 genomes]
rs61477279	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6473900	0.85[ASN][1000 genomes]
rs6473909	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6983694	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009781	0.84[ASN][1000 genomes]
rs7011379	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7011430	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72614663	0.84[ASN][1000 genomes]
rs72614664	0.85[ASN][1000 genomes]
rs72614665	0.85[ASN][1000 genomes]
rs72614666	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72614667	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72614668	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72614670	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72614671	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7463261	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7464767	0.84[ASN][1000 genomes]
rs7815216	0.83[ASN][1000 genomes]
rs7842911	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9298497	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs952194	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643823	0.85[ASN][1000 genomes]
rs9643824	0.84[ASN][1000 genomes]
rs981638	0.82[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv890922	chr8:54994759-55023494	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1828835	MRPL15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55014000-55018400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:55014800-55016600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:55014800-55017800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:55014800-55018800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:55015000-55016600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:55015000-55018000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:55015000-55018000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:55015000-55018000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:55015000-55018200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:55015000-55018600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:55015000-55018800	Weak transcription	HMEC	breast
12	chr8:55015200-55017000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:55015200-55017000	Weak transcription	Placenta	Placenta
14	chr8:55015200-55018000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:55015200-55018200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:55015200-55018200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:55015200-55018200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:55015200-55018400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:55015200-55018400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:55015200-55018400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:55015200-55018400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:55015200-55018400	Weak transcription	K562	blood
23	chr8:55015200-55018600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:55015200-55018600	Weak transcription	HepG2	liver
25	chr8:55015200-55018800	Weak transcription	NHEK	skin
26	chr8:55015400-55018800	Weak transcription	GM12878-XiMat	blood

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