Variant report

Variant	rs533303494
Chromosome Location	chr5:75470137-75470138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:75470061-75470175	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:75470020-75470208	GM12891	blood:	n/a	n/a
3	MYC	chr5:75470027-75470145	MCF-7	breast:	n/a	n/a
4	POLR2A	chr5:75470033-75470181	A549	lung:	n/a	n/a
5	POLR2A	chr5:75469952-75470283	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:75469794-75470180	MCF-7	breast:	n/a	n/a
7	POLR2A	chr5:75469846-75470294	HUVEC	blood vessel:	n/a	n/a
8	TAF1	chr5:75470040-75470196	GM12892	blood:	n/a	n/a
9	MYC	chr5:75470031-75470145	MCF-7	breast:	n/a	n/a
10	POLR2A	chr5:75469845-75470176	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr5:75469884-75470246	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:75470039-75470197	HepG2	liver:	n/a	n/a
13	POLR2A	chr5:75470034-75470243	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr5:75470022-75470234	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr5:75470033-75470201	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:75469962-75470276	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr5:75469764-75470227	MCF-7	breast:	n/a	n/a
18	POLR2A	chr5:75470017-75470218	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr5:75470022-75470190	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:75469991-75470186	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:75470021-75470188	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:75469996-75470221	GM12892	blood:	n/a	n/a
23	POLR2A	chr5:75469993-75470227	GM12892	blood:	n/a	n/a
24	GABPA	chr5:75470055-75470186	HepG2	liver:	n/a	n/a
25	POLR2A	chr5:75470033-75470170	A549	lung:	n/a	n/a
26	TAF1	chr5:75469933-75470291	HepG2	liver:	n/a	n/a
27	POLR2A	chr5:75470028-75470209	HepG2	liver:	n/a	n/a
28	TAF1	chr5:75470008-75470224	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr5:75469986-75470230	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr5:75469875-75470258	GM12892	blood:	n/a	n/a
31	POLR2A	chr5:75469978-75470264	GM12891	blood:	n/a	n/a
32	POLR2A	chr5:75469991-75470265	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr5:75470077-75470186	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr5:75469889-75470232	GM12891	blood:	n/a	n/a
35	TAF1	chr5:75470034-75470178	Hela-S3	cervix:	n/a	n/a
36	HEY1	chr5:75469917-75470282	K562	blood:	n/a	n/a
37	SIN3AK20	chr5:75470037-75470176	HepG2	liver:	n/a	n/a
38	POLR2A	chr5:75469835-75470178	K562	blood:	n/a	n/a
39	POLR2A	chr5:75469828-75470177	A549	lung:	n/a	n/a
40	POLR2A	chr5:75469883-75470274	H1-hESC	embryonic stem cell:	n/a	n/a
41	TAF1	chr5:75470030-75470286	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr5:75469778-75470326	ProgFib	skin:	n/a	n/a
43	HEY1	chr5:75469949-75470206	K562	blood:	n/a	n/a
44	POLR2A	chr5:75470004-75470222	GM12891	blood:	n/a	n/a
45	POLR2A	chr5:75469877-75470177	GM12878	blood:	n/a	n/a
46	POLR2A	chr5:75469902-75470168	HepG2	liver:	n/a	n/a
47	POLR2A	chr5:75470032-75470187	HepG2	liver:	n/a	n/a
48	POLR2A	chr5:75469869-75470350	GM12892	blood:	n/a	n/a
49	TCF3	chr5:75469937-75470221	GM12878	blood:	n/a	n/a
50	POLR2A	chr5:75469796-75470377	Gliobla	brain:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000254893	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv526084	chr5:75410511-75530494	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv2757119	chr5:75426863-75474780	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv2759351	chr5:75426863-75474780	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv34958	chr5:75429015-75474921	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv989228	chr5:75466097-75470949	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	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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