Variant report

Variant	rs12055120
Chromosome Location	chr5:79647809-79647810
allele	C/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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10037935	0.86[JPT][hapmap]
rs12651951	0.82[JPT][hapmap]
rs12654489	0.82[JPT][hapmap]
rs13179066	0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16877749	0.88[ASN][1000 genomes]
rs4133093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4704663	0.80[ASN][1000 genomes]
rs6876442	0.83[JPT][hapmap]
rs7703252	0.91[JPT][hapmap]
rs879738	0.80[JPT][hapmap]
rs924447	0.88[ASN][1000 genomes]
rs9293816	0.86[JPT][hapmap]

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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