Variant report

Variant	rs73130703
Chromosome Location	chr7:55799871-55799872
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:55799652-55799910	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:55799622-55799941	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:55799482-55800167	H1-hESC	embryonic stem cell:	n/a	n/a
4	HEY1	chr7:55799656-55799920	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:55799672-55799920	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:55799665-55799936	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr7:55799687-55799898	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:55799633-55800049	GM12892	blood:	n/a	n/a
9	TAF1	chr7:55799605-55799913	H1-hESC	embryonic stem cell:	n/a	n/a
10	HEY1	chr7:55799614-55799960	K562	blood:	n/a	n/a
11	POLR2A	chr7:55799638-55799933	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:55799662-55799918	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr7:55799589-55799915	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:55799678-55799897	A549	lung:	n/a	n/a
15	POLR2A	chr7:55799603-55799896	SK-N-MC	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:55799845-55799895	HPAEpiC	pulmonary alveolar:	n/a
2	chr7:55799829-55799879	HCF	heart:	n/a
3	chr7:55799845-55799895	HRPEpiC	eye:	n/a
4	chr7:55799845-55799895	LNCaP	prostate:	n/a
5	chr7:55799829-55799879	U87	brain:	n/a
6	chr7:55799845-55799895	AG04449	skin:	fetal
7	chr7:55799845-55799895	AG09319	gingival:	n/a
8	chr7:55799829-55799879	ECC-1	luminal epithelium:	n/a
9	chr7:55799829-55799879	HL-60	blood:	n/a
10	chr7:55799845-55799895	BJ	skin:	n/a
11	chr7:55799829-55799879	SK-N-SH	brain:	n/a
12	chr7:55799829-55799879	Caco-2	colon:	n/a
13	chr7:55799829-55799879	AG04450	lung:	fetal
14	chr7:55799829-55799879	HRE	kidney:	n/a
15	chr7:55799845-55799895	HCPEpiC	choroid plexus:	n/a
16	chr7:55799829-55799879	HAEpiC	amniotic membrane:	n/a
17	chr7:55799829-55799879	GM06990	blood:	n/a
18	chr7:55799829-55799879	MCF-7	breast:	n/a
19	chr7:55799845-55799895	Hela-S3	cervix:	n/a
20	chr7:55799845-55799895	NB4	blood:	n/a
21	chr7:55799845-55799895	HNPCEpiC	eye:	n/a
22	chr7:55799829-55799879	NH-A	brain:	n/a
23	chr7:55799845-55799895	HL-60	blood:	n/a
24	chr7:55799829-55799879	H1-hESC	embryonic stem cell:	embryo
25	chr7:55799845-55799895	H1-hESC	embryonic stem cell:	embryo
26	chr7:55799845-55799895	Caco-2	colon:	n/a
27	chr7:55799845-55799895	GM12878	blood:	n/a
28	chr7:55799845-55799895	MCF10A-Er-Src	breast:	n/a
29	chr7:55799845-55799895	PFSK-1	brain:	n/a
30	chr7:55799845-55799895	HUVEC	blood vessel:	n/a
31	chr7:55799845-55799895	AG09309	skin:	n/a
32	chr7:55799829-55799879	Jurkat	blood:	n/a
33	chr7:55799845-55799895	SK-N-SH_RA	brain:	n/a
34	chr7:55799829-55799879	NT2-D1	testis:	n/a
35	chr7:55799845-55799895	CMK	blood:	n/a
36	chr7:55799845-55799895	PrEC	prostate:	n/a
37	chr7:55799829-55799879	LNCaP	prostate:	n/a
38	chr7:55799829-55799879	Hela-S3	cervix:	n/a
39	chr7:55799829-55799879	HRPEpiC	eye:	n/a
40	chr7:55799845-55799895	HIPEpiC	eye:	n/a
41	chr7:55799845-55799895	HRCEpiC	kidney:	n/a
42	chr7:55799829-55799879	CMK	blood:	n/a
43	chr7:55799845-55799895	SAEC	small airway:	n/a
44	chr7:55799845-55799895	MCF-7	breast:	n/a
45	chr7:55799829-55799879	GM12878	blood:	n/a
46	chr7:55799829-55799879	HCT-116	colon:	n/a
47	chr7:55799829-55799879	HEK293	kidney:	embryo
48	chr7:55799845-55799895	IMR90	lung:	fetal
49	chr7:55799845-55799895	HCF	heart:	n/a
50	chr7:55799829-55799879	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
CICP11	TF binding region
CICP11	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10280445	0.81[ASN][1000 genomes]
rs4610703	0.89[ASN][1000 genomes]
rs5023487	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56291789	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62456602	0.81[ASN][1000 genomes]
rs6959586	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73128792	0.89[ASN][1000 genomes]
rs9719856	0.86[AMR][1000 genomes];0.81[EUR][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	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv427782	chr7:55703073-56010314	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv888063	chr7:55728476-55899496	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv469612	chr7:55752394-55876163	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv482609	chr7:55752394-55876163	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv970481	chr7:55791876-55816398	Enhancers Genic enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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