Variant report

Variant	rs13161951
Chromosome Location	chr5:79647806-79647807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:79647624-79647814	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:79647518-79647923	GM12891	blood:	n/a	n/a
3	POLR2A	chr5:79647440-79647965	GM12878	blood:	n/a	n/a
4	TAF1	chr5:79647535-79647863	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:79647484-79648018	Gliobla	brain:	n/a	n/a
6	POLR2A	chr5:79647566-79647823	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:79647629-79647855	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr5:79647474-79647939	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr5:79647476-79648016	MCF-7	breast:	n/a	n/a
10	POLR2A	chr5:79647482-79647869	U87	brain:	n/a	n/a
11	YY1	chr5:79647547-79647913	A549	lung:	n/a	n/a
12	POLR2A	chr5:79647418-79648039	MCF-7	breast:	n/a	n/a
13	TAF1	chr5:79647590-79647810	GM12891	blood:	n/a	n/a
14	POLR2A	chr5:79647578-79647967	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr5:79647479-79648051	K562	blood:	n/a	n/a
16	HEY1	chr5:79647555-79647907	K562	blood:	n/a	n/a
17	SIN3AK20	chr5:79647645-79647842	HepG2	liver:	n/a	n/a
18	POLR2A	chr5:79647513-79647888	GM12878	blood:	n/a	n/a
19	POLR2A	chr5:79647582-79647861	GM12892	blood:	n/a	n/a
20	SIX5	chr5:79647580-79647994	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:79647489-79647900	HepG2	liver:	n/a	n/a
22	POLR2A	chr5:79647513-79647972	A549	lung:	n/a	n/a
23	SIX5	chr5:79647605-79647869	K562	blood:	n/a	n/a
24	POLR2A	chr5:79647496-79647849	GM12891	blood:	n/a	n/a
25	POLR2A	chr5:79647632-79647859	GM12891	blood:	n/a	n/a
26	POLR2A	chr5:79647572-79647871	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr5:79647467-79647985	ProgFib	skin:	n/a	n/a
28	POLR2A	chr5:79647503-79647848	GM12892	blood:	n/a	n/a
29	POLR2A	chr5:79647446-79648044	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr5:79647506-79647920	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr5:79647335-79647899	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr5:79647647-79648024	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr5:79647625-79647853	HepG2	liver:	n/a	n/a
34	POLR2A	chr5:79647592-79647867	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr5:79647421-79648019	MCF-7	breast:	n/a	n/a
36	HEY1	chr5:79647585-79647899	HepG2	liver:	n/a	n/a
37	YY1	chr5:79647621-79647835	A549	lung:	n/a	n/a
38	TAF1	chr5:79647572-79647824	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr5:79647564-79647816	A549	lung:	n/a	n/a
40	POLR2A	chr5:79647564-79647879	SK-N-MC	brain:	n/a	n/a
41	HEY1	chr5:79647497-79647899	K562	blood:	n/a	n/a
42	POLR2A	chr5:79647571-79647827	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:79647805-79647855	BJ	skin:	n/a
2	chr5:79647805-79647855	SK-N-SH	brain:	n/a
3	chr5:79647805-79647855	AG09309	skin:	n/a
4	chr5:79647805-79647855	GM06990	blood:	n/a
5	chr5:79647805-79647855	HNPCEpiC	eye:	n/a
6	chr5:79647805-79647855	AG10803	skin:	n/a
7	chr5:79647805-79647855	AG09319	gingival:	n/a
8	chr5:79647805-79647855	HRPEpiC	eye:	n/a
9	chr5:79647805-79647855	MCF-7	breast:	n/a
10	chr5:79647805-79647855	AoSMC	blood vessel:	n/a
11	chr5:79647805-79647855	HepG2	liver:	n/a
12	chr5:79647805-79647855	PFSK-1	brain:	n/a
13	chr5:79647805-79647855	Caco-2	colon:	n/a
14	chr5:79647805-79647855	HRCEpiC	kidney:	n/a
15	chr5:79647805-79647855	NHDF-neo	bronchial:	n/a
16	chr5:79647805-79647855	GM12878	blood:	n/a
17	chr5:79647805-79647855	ProgFib	skin:	n/a
18	chr5:79647805-79647855	HMEC	breast:	n/a
19	chr5:79647805-79647855	AG04450	lung:	fetal
20	chr5:79647805-79647855	HCT-116	colon:	n/a
21	chr5:79647805-79647855	AG04449	skin:	fetal
22	chr5:79647805-79647855	U87	brain:	n/a
23	chr5:79647805-79647855	IMR90	lung:	fetal
24	chr5:79647805-79647855	NT2-D1	testis:	n/a
25	chr5:79647805-79647855	GM12892	blood:	n/a
26	chr5:79647805-79647855	SK-N-MC	brain:	n/a
27	chr5:79647805-79647855	CMK	blood:	n/a
28	chr5:79647805-79647855	HEK293	kidney:	embryo
29	chr5:79647805-79647855	SKMC	muscle:	n/a
30	chr5:79647805-79647855	HCPEpiC	choroid plexus:	n/a
31	chr5:79647805-79647855	Jurkat	blood:	n/a
32	chr5:79647805-79647855	SAEC	small airway:	n/a
33	chr5:79647805-79647855	HL-60	blood:	n/a
34	chr5:79647805-79647855	HCM	heart:	n/a
35	chr5:79647805-79647855	ECC-1	luminal epithelium:	n/a
36	chr5:79647805-79647855	HPAEpiC	pulmonary alveolar:	n/a
37	chr5:79647805-79647855	HRE	kidney:	n/a
38	chr5:79647805-79647855	RPTEC	kidney:	n/a
39	chr5:79647805-79647855	HUVEC	blood vessel:	n/a
40	chr5:79647805-79647855	ovcar-3	ovarian:	n/a
41	chr5:79647805-79647855	PrEC	prostate:	n/a
42	chr5:79647805-79647855	HAEpiC	amniotic membrane:	n/a
43	chr5:79647805-79647855	LNCaP	prostate:	n/a
44	chr5:79647805-79647855	MCF10A-Er-Src	breast:	n/a
45	chr5:79647805-79647855	Hela-S3	cervix:	n/a
46	chr5:79647805-79647855	NH-A	brain:	n/a
47	chr5:79647805-79647855	HEEpiC	esophagus:	n/a
48	chr5:79647805-79647855	H1-hESC	embryonic stem cell:	embryo
49	chr5:79647805-79647855	GM19239	blood:	n/a
50	chr5:79647805-79647855	PANC-1	pancreas:	n/a

No data

Variant related genes	Relation type
ENSG00000248569	TF binding region
ENSG00000248569	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13153590	0.84[EUR][1000 genomes]
rs13155466	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13155548	0.82[EUR][1000 genomes]
rs13159849	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13168948	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13172980	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13172989	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13173486	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13177210	0.82[AMR][1000 genomes]
rs13177823	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13178121	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13178468	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13181295	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13181945	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13182471	0.86[AMR][1000 genomes]
rs13186099	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13188220	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34035147	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34104982	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34625696	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34881925	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35908078	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62365914	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS 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 miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79638600-79648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:79644800-79650200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:79645000-79651200	Weak transcription	Monocytes-CD14+_RO01746	blood

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