Variant report

Variant	rs455519
Chromosome Location	chr5:40803342-40803343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:40802983-40803344	NB4	blood:	n/a	n/a
2	ZNF384	chr5:40802968-40803416	K562	blood:	n/a	n/a
3	CTCF	chr5:40801957-40803506	K562	blood:	n/a	n/a
4	JUND	chr5:40801966-40803708	K562	blood:	n/a	chr5:40802046-40802055
5	ZC3H11A	chr5:40803163-40803518	K562	blood:	n/a	n/a
6	HCFC1	chr5:40803074-40803398	K562	blood:	n/a	n/a
7	MYC	chr5:40802993-40803387	K562	blood:	n/a	n/a
8	SPI1	chr5:40802968-40803393	HL-60	blood:	n/a	chr5:40803150-40803157
9	MAZ	chr5:40802978-40803487	K562	blood:	n/a	n/a
10	RCOR1	chr5:40801991-40803599	K562	blood:	n/a	n/a
11	ELK1	chr5:40803017-40803491	K562	blood:	n/a	n/a
12	MYC	chr5:40802966-40803393	NB4	blood:	n/a	n/a
13	TBL1XR1	chr5:40802969-40803506	K562	blood:	n/a	n/a
14	CEBPB	chr5:40803033-40803358	K562	blood:	n/a	n/a
15	ARID3A	chr5:40801945-40803342	K562	blood:	n/a	n/a
16	UBTF	chr5:40802995-40803358	K562	blood:	n/a	n/a
17	JUN	chr5:40801861-40803940	K562	blood:	n/a	chr5:40802046-40802055
18	MAFK	chr5:40803006-40803465	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:40802285..40804990-chr5:40806430..40808418,3	K562	blood:
2	chr5:40802145..40803707-chr5:40812123..40813694,2	K562	blood:
3	chr5:40802266..40804575-chr5:40807090..40808775,2	MCF-7	breast:
4	chr5:40796800..40800335-chr5:40800670..40804865,6	MCF-7	breast:
5	chr5:40802997..40805283-chr5:40828137..40831104,3	MCF-7	breast:
6	chr5:40801698..40803509-chr5:40825122..40827203,2	MCF-7	breast:
7	chr5:40802676..40804762-chr5:40806343..40808441,2	MCF-7	breast:
8	chr5:40752834..40759871-chr5:40793841..40803866,19	K562	blood:
9	chr5:40795843..40803356-chr5:40833207..40837160,32	MCF-7	breast:
10	chr5:40754690..40758108-chr5:40800193..40803866,6	K562	blood:

No data

Variant related genes	Relation type
PRKAA1	TF binding region
ENSG00000132356	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000113638	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1070444	1.00[JPT][hapmap]
rs1070445	1.00[JPT][hapmap]
rs1097592	1.00[JPT][hapmap]
rs152374	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs152376	0.94[ASN][1000 genomes]
rs1530811	1.00[JPT][hapmap]
rs154269	1.00[ASN][1000 genomes]
rs154270	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs154271	0.94[ASN][1000 genomes]
rs154272	0.81[ASN][1000 genomes]
rs154274	1.00[JPT][hapmap]
rs154276	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs154277	1.00[ASN][1000 genomes]
rs154278	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs154282	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs154283	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1645509	0.81[ASN][1000 genomes]
rs166282	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs173618	0.94[ASN][1000 genomes]
rs173619	0.81[ASN][1000 genomes]
rs181818	0.83[ASN][1000 genomes]
rs181820	0.81[ASN][1000 genomes]
rs181821	0.81[ASN][1000 genomes]
rs183138	0.94[ASN][1000 genomes]
rs185114	1.00[ASN][1000 genomes]
rs185115	1.00[ASN][1000 genomes]
rs185381	1.00[ASN][1000 genomes]
rs187274	1.00[JPT][hapmap]
rs192962	1.00[JPT][hapmap]
rs249408	0.87[ASN][1000 genomes]
rs249409	0.87[ASN][1000 genomes]
rs249411	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs249412	0.87[ASN][1000 genomes]
rs249421	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs249424	1.00[ASN][1000 genomes]
rs249426	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs249427	1.00[ASN][1000 genomes]
rs249431	1.00[ASN][1000 genomes]
rs249432	0.94[ASN][1000 genomes]
rs249433	0.94[ASN][1000 genomes]
rs249434	0.94[ASN][1000 genomes]
rs249435	0.94[ASN][1000 genomes]
rs249439	0.81[ASN][1000 genomes]
rs29737	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs29741	1.00[ASN][1000 genomes]
rs29762	1.00[JPT][hapmap]
rs29763	1.00[JPT][hapmap]
rs29764	1.00[JPT][hapmap]
rs323556	1.00[JPT][hapmap]
rs323562	1.00[JPT][hapmap]
rs34236150	0.81[ASN][1000 genomes]
rs370346	0.81[ASN][1000 genomes]
rs380334	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs382916	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs396412	0.81[ASN][1000 genomes]
rs4129381	0.87[ASN][1000 genomes]
rs424787	0.81[ASN][1000 genomes]
rs42515	1.00[JPT][hapmap]
rs438604	0.81[ASN][1000 genomes]
rs441016	0.81[ASN][1000 genomes]
rs445367	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs455374	0.81[ASN][1000 genomes]
rs456929	1.00[ASN][1000 genomes]
rs456995	1.00[ASN][1000 genomes]
rs457111	0.81[ASN][1000 genomes]
rs458884	0.81[ASN][1000 genomes]
rs459491	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs459794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs460752	0.81[ASN][1000 genomes]
rs461612	1.00[ASN][1000 genomes]
rs463040	0.81[ASN][1000 genomes]
rs463675	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs463905	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs464045	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs464191	0.81[ASN][1000 genomes]
rs465467	0.81[ASN][1000 genomes]
rs467438	0.81[ASN][1000 genomes]
rs694217	1.00[JPT][hapmap]
rs704032	0.94[ASN][1000 genomes]
rs704033	0.94[ASN][1000 genomes]
rs704034	1.00[JPT][hapmap]
rs837100	1.00[ASN][1000 genomes]
rs837102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs837105	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs837109	1.00[CHB][hapmap]
rs837119	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs837267	1.00[ASN][1000 genomes]
rs837279	0.94[ASN][1000 genomes]
rs837378	1.00[JPT][hapmap]
rs837385	1.00[JPT][hapmap]
rs9292786	0.83[AFR][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	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
4	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40799800-40803800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:40800200-40808200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:40800200-40808400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:40800600-40808200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:40802000-40803400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:40802000-40803600	Flanking Active TSS	K562	blood
7	chr5:40802000-40803800	Enhancers	HepG2	liver

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