Variant report

Variant	rs530782601
Chromosome Location	chr3:75263684-75263685
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr3:75263556-75263773	GM12878	blood:	n/a	chr3:75263620-75263631 chr3:75263622-75263631 chr3:75263623-75263632 chr3:75263620-75263633 chr3:75263622-75263631 chr3:75263621-75263630 chr3:75263616-75263637
2	TAF1	chr3:75263563-75263766	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:75263442-75264015	MCF-7	breast:	n/a	n/a
4	POLR2A	chr3:75263576-75263774	A549	lung:	n/a	n/a
5	POLR2A	chr3:75263554-75263870	GM12891	blood:	n/a	n/a
6	HEY1	chr3:75263539-75263917	HepG2	liver:	n/a	chr3:75263715-75263730
7	MYC	chr3:75263558-75263797	HepG2	liver:	n/a	chr3:75263622-75263631 chr3:75263622-75263631 chr3:75263617-75263636 chr3:75263622-75263631
8	POLR2A	chr3:75263551-75263845	A549	lung:	n/a	n/a
9	POLR2A	chr3:75263505-75264299	GM12892	blood:	n/a	n/a
10	POLR2A	chr3:75263524-75263840	PANC-1	pancreas:	n/a	n/a
11	HEY1	chr3:75263533-75264405	K562	blood:	n/a	chr3:75263715-75263730
12	POLR2A	chr3:75263557-75264090	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr3:75263583-75263748	Hela-S3	cervix:	n/a	n/a
14	JUND	chr3:75263591-75263719	HepG2	liver:	n/a	n/a
15	USF1	chr3:75263514-75263738	A549	lung:	n/a	chr3:75263620-75263631 chr3:75263622-75263631 chr3:75263623-75263632 chr3:75263620-75263633 chr3:75263622-75263631 chr3:75263621-75263630 chr3:75263616-75263637
16	POLR2A	chr3:75263521-75263819	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr3:75263583-75263736	A549	lung:	n/a	n/a
18	POLR2A	chr3:75263443-75263948	HepG2	liver:	n/a	n/a
19	POLR2A	chr3:75263589-75263736	A549	lung:	n/a	n/a
20	POLR2A	chr3:75263524-75263941	SK-N-MC	brain:	n/a	n/a
21	TAF1	chr3:75263527-75263896	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr3:75263528-75263775	PFSK-1	brain:	n/a	n/a
23	TAF1	chr3:75263535-75263834	A549	lung:	n/a	n/a
24	HEY1	chr3:75263543-75263819	HepG2	liver:	n/a	chr3:75263715-75263730
25	POLR2A	chr3:75263572-75263792	GM12878	blood:	n/a	n/a
26	POLR2A	chr3:75263509-75263790	U87	brain:	n/a	n/a
27	POLR2A	chr3:75263499-75263849	MCF-7	breast:	n/a	n/a
28	USF1	chr3:75263568-75263713	HepG2	liver:	n/a	chr3:75263620-75263631 chr3:75263622-75263631 chr3:75263623-75263632 chr3:75263620-75263633 chr3:75263622-75263631 chr3:75263621-75263630 chr3:75263616-75263637
29	TAF1	chr3:75263524-75263783	GM12891	blood:	n/a	n/a
30	POLR2A	chr3:75263542-75264034	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr3:75263553-75263858	GM12891	blood:	n/a	n/a
32	POLR2A	chr3:75263379-75264010	K562	blood:	n/a	n/a
33	POLR2A	chr3:75263485-75263838	HepG2	liver:	n/a	n/a
34	SPI1	chr3:75263566-75263747	K562	blood:	n/a	chr3:75263646-75263653
35	POLR2A	chr3:75263634-75263949	GM12878	blood:	n/a	n/a
36	PAX5	chr3:75263551-75263732	GM12878	blood:	n/a	chr3:75263644-75263653
37	POLR2A	chr3:75263546-75264119	Hela-S3	cervix:	n/a	n/a
38	USF1	chr3:75263416-75263818	A549	lung:	n/a	chr3:75263620-75263631 chr3:75263622-75263631 chr3:75263623-75263632 chr3:75263620-75263633 chr3:75263622-75263631 chr3:75263621-75263630 chr3:75263616-75263637
39	POLR2A	chr3:75263477-75263774	Gliobla	brain:	n/a	n/a
40	POLR2A	chr3:75263525-75263905	HUVEC	blood vessel:	n/a	n/a
41	TAF1	chr3:75263544-75263785	HepG2	liver:	n/a	n/a
42	POU2F2	chr3:75263491-75264050	GM12878	blood:	n/a	n/a
43	POLR2A	chr3:75263560-75264142	GM12892	blood:	n/a	n/a
44	POLR2A	chr3:75263568-75264941	GM12878	blood:	n/a	n/a
45	POLR2A	chr3:75263517-75264870	GM12878	blood:	n/a	n/a
46	POLR2A	chr3:75263499-75264578	H1-hESC	embryonic stem cell:	n/a	n/a
47	MYC	chr3:75263524-75263696	MCF-7	breast:	n/a	chr3:75263622-75263631 chr3:75263622-75263631 chr3:75263617-75263636 chr3:75263622-75263631
48	USF1	chr3:75263568-75263737	GM12878	blood:	n/a	chr3:75263620-75263631 chr3:75263622-75263631 chr3:75263623-75263632 chr3:75263620-75263633 chr3:75263622-75263631 chr3:75263621-75263630 chr3:75263616-75263637
49	POLR2A	chr3:75263584-75263764	HepG2	liver:	n/a	n/a
50	POLR2A	chr3:75263578-75263732	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:75263641-75263691	CMK	blood:	n/a
2	chr3:75263641-75263691	HNPCEpiC	eye:	n/a
3	chr3:75263641-75263691	HAEpiC	amniotic membrane:	n/a
4	chr3:75263641-75263691	NT2-D1	testis:	n/a
5	chr3:75263641-75263691	HCPEpiC	choroid plexus:	n/a
6	chr3:75263641-75263691	HL-60	blood:	n/a
7	chr3:75263641-75263691	GM12878	blood:	n/a
8	chr3:75263641-75263691	Caco-2	colon:	n/a
9	chr3:75263641-75263691	ProgFib	skin:	n/a
10	chr3:75263641-75263691	Jurkat	blood:	n/a
11	chr3:75263641-75263691	ECC-1	luminal epithelium:	n/a
12	chr3:75263641-75263691	H1-hESC	embryonic stem cell:	embryo
13	chr3:75263641-75263691	HUVEC	blood vessel:	n/a
14	chr3:75263641-75263691	MCF10A-Er-Src	breast:	n/a
15	chr3:75263641-75263691	SK-N-SH_RA	brain:	n/a
16	chr3:75263641-75263691	GM19239	blood:	n/a
17	chr3:75263641-75263691	HPAEpiC	pulmonary alveolar:	n/a
18	chr3:75263641-75263691	HCF	heart:	n/a
19	chr3:75263641-75263691	MCF-7	breast:	n/a
20	chr3:75263641-75263691	AG09319	gingival:	n/a
21	chr3:75263641-75263691	HCT-116	colon:	n/a
22	chr3:75263641-75263691	AG04449	skin:	fetal
23	chr3:75263641-75263691	HEK293	kidney:	embryo
24	chr3:75263641-75263691	Hepatocyte	liver:	n/a
25	chr3:75263641-75263691	AoSMC	blood vessel:	n/a
26	chr3:75263641-75263691	GM06990	blood:	n/a
27	chr3:75263641-75263691	K562	blood:	n/a
28	chr3:75263641-75263691	HRE	kidney:	n/a
29	chr3:75263641-75263691	AG09309	skin:	n/a
30	chr3:75263641-75263691	HEEpiC	esophagus:	n/a
31	chr3:75263641-75263691	GM12891	blood:	n/a
32	chr3:75263641-75263691	PANC-1	pancreas:	n/a
33	chr3:75263641-75263691	HRCEpiC	kidney:	n/a
34	chr3:75263641-75263691	NB4	blood:	n/a
35	chr3:75263641-75263691	AG04450	lung:	fetal
36	chr3:75263641-75263691	LNCaP	prostate:	n/a
37	chr3:75263641-75263691	NHDF-neo	bronchial:	n/a
38	chr3:75263641-75263691	NHBE	bronchial:	n/a
39	chr3:75263641-75263691	SK-N-SH	brain:	n/a
40	chr3:75263641-75263691	PrEC	prostate:	n/a
41	chr3:75263641-75263691	NH-A	brain:	n/a
42	chr3:75263641-75263691	SK-N-MC	brain:	n/a
43	chr3:75263641-75263691	HepG2	liver:	n/a
44	chr3:75263641-75263691	GM12892	blood:	n/a
45	chr3:75263641-75263691	SAEC	small airway:	n/a
46	chr3:75263641-75263691	SKMC	muscle:	n/a
47	chr3:75263641-75263691	HIPEpiC	eye:	n/a
48	chr3:75263641-75263691	BJ	skin:	n/a
49	chr3:75263641-75263691	RPTEC	kidney:	n/a
50	chr3:75263641-75263691	A549	lung:	n/a

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4444	chr3:75263669-75263686	MIMAT0018962_1

Variant related genes	Relation type
HNRNPA3P6	TF binding region
HNRNPA3P6	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529994	chr3:74720752-75471887	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv916594	chr3:74943399-75540161	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	esv1851336	chr3:74970564-75280989	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834736	chr3:75083055-75271458	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997253	chr3:75168497-76021627	Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
6	nsv876961	chr3:75193473-75331002	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv876962	chr3:75198904-75540544	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv876963	chr3:75202547-75331002	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv876964	chr3:75202547-75437889	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv1002218	chr3:75221611-75702475	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
11	nsv876965	chr3:75222937-75294417	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
12	nsv460704	chr3:75228373-75322243	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
13	nsv590641	chr3:75228373-75322243	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
14	esv2422240	chr3:75244279-75595933	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
15	nsv432427	chr3:75249409-75676582	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
16	esv2422315	chr3:75250088-75853296	Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
17	nsv963330	chr3:75262376-75265142	Inactive region	TF binding region CpG island lncRNA miRNA	2 gene(s)	inside rSNPs	n/a

No data

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

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dbSNP/dbVar ID: rs12345 /nsv7879
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