Variant report

Variant	rs139085466
Chromosome Location	chr5:75470217-75470218
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	POLR2A	chr5:75469952-75470283	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:75469846-75470294	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr5:75469884-75470246	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:75470034-75470243	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr5:75470022-75470234	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr5:75469962-75470276	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr5:75469764-75470227	MCF-7	breast:	n/a	n/a
8	POLR2A	chr5:75470017-75470218	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr5:75469996-75470221	GM12892	blood:	n/a	n/a
10	POLR2A	chr5:75469993-75470227	GM12892	blood:	n/a	n/a
11	TAF1	chr5:75469933-75470291	HepG2	liver:	n/a	n/a
12	TAF1	chr5:75470008-75470224	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr5:75469986-75470230	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr5:75469875-75470258	GM12892	blood:	n/a	n/a
15	POLR2A	chr5:75469978-75470264	GM12891	blood:	n/a	n/a
16	POLR2A	chr5:75469991-75470265	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr5:75469889-75470232	GM12891	blood:	n/a	n/a
18	HEY1	chr5:75469917-75470282	K562	blood:	n/a	n/a
19	POLR2A	chr5:75469883-75470274	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr5:75470030-75470286	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr5:75469778-75470326	ProgFib	skin:	n/a	n/a
22	POLR2A	chr5:75470004-75470222	GM12891	blood:	n/a	n/a
23	POLR2A	chr5:75469869-75470350	GM12892	blood:	n/a	n/a
24	TCF3	chr5:75469937-75470221	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:75469796-75470377	Gliobla	brain:	n/a	n/a
26	POLR2A	chr5:75469927-75470253	GM12878	blood:	n/a	n/a
27	FOXA2	chr5:75470031-75470262	A549	lung:	n/a	n/a
28	HEY1	chr5:75469900-75470263	HepG2	liver:	n/a	n/a
29	POLR2A	chr5:75469774-75470329	MCF-7	breast:	n/a	n/a
30	POLR2A	chr5:75470020-75470240	PANC-1	pancreas:	n/a	n/a

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
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