Variant report

Variant	rs7716239
Chromosome Location	chr5:40803155-40803156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:40802980-40803275	K562	blood:	n/a	n/a
2	ATF1	chr5:40802966-40803297	K562	blood:	n/a	n/a
3	CTCF	chr5:40803027-40803221	K562	blood:	n/a	n/a
4	MAX	chr5:40802983-40803344	NB4	blood:	n/a	n/a
5	ZNF384	chr5:40802968-40803416	K562	blood:	n/a	n/a
6	CTCF	chr5:40801957-40803506	K562	blood:	n/a	n/a
7	JUND	chr5:40801966-40803708	K562	blood:	n/a	chr5:40802046-40802055
8	UBTF	chr5:40803010-40803296	K562	blood:	n/a	n/a
9	HCFC1	chr5:40803074-40803398	K562	blood:	n/a	n/a
10	MYC	chr5:40802993-40803387	K562	blood:	n/a	n/a
11	GTF3C2	chr5:40802073-40803267	K562	blood:	n/a	n/a
12	SPI1	chr5:40802968-40803393	HL-60	blood:	n/a	chr5:40803150-40803157
13	BHLHE40	chr5:40802985-40803303	K562	blood:	n/a	n/a
14	MAZ	chr5:40802978-40803487	K562	blood:	n/a	n/a
15	RCOR1	chr5:40801991-40803599	K562	blood:	n/a	n/a
16	CTCF	chr5:40803064-40803175	HepG2	liver:	n/a	n/a
17	ELK1	chr5:40803017-40803491	K562	blood:	n/a	n/a
18	MYC	chr5:40802966-40803393	NB4	blood:	n/a	n/a
19	TBL1XR1	chr5:40802969-40803506	K562	blood:	n/a	n/a
20	MAX	chr5:40802052-40803271	K562	blood:	n/a	n/a
21	SPI1	chr5:40803009-40803247	K562	blood:	n/a	chr5:40803150-40803157
22	POLR2A	chr5:40803038-40803210	K562	blood:	n/a	n/a
23	CEBPB	chr5:40803033-40803358	K562	blood:	n/a	n/a
24	ARID3A	chr5:40801945-40803342	K562	blood:	n/a	n/a
25	ZNF143	chr5:40802999-40803275	K562	blood:	n/a	n/a
26	UBTF	chr5:40802995-40803358	K562	blood:	n/a	n/a
27	JUN	chr5:40801861-40803940	K562	blood:	n/a	chr5:40802046-40802055
28	TBP	chr5:40801940-40803299	K562	blood:	n/a	n/a
29	RAD21	chr5:40802975-40803217	K562	blood:	n/a	n/a
30	MAFK	chr5:40803006-40803465	K562	blood:	n/a	n/a
31	RCOR1	chr5:40802001-40803272	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
ENSG00000145592	Chromatin interaction
ENSG00000113638	Chromatin interaction
ENSG00000132356	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1645509	1.00[AMR][1000 genomes]
rs181819	1.00[AMR][1000 genomes]
rs181820	1.00[AMR][1000 genomes]
rs249432	1.00[AMR][1000 genomes]
rs249433	1.00[AMR][1000 genomes]
rs6495	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6861744	1.00[AMR][1000 genomes]
rs837279	1.00[AMR][1000 genomes]
rs9687153	1.00[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:8 , 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
8	chr5:40802400-40803200	Enhancers	H9 Cell Line	embryonic stem cell

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