Variant report

Variant	rs232916
Chromosome Location	chr1:59097172-59097173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr1:59097098-59097273	K562	blood:	n/a	n/a
2	POLR2A	chr1:59096959-59097370	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:59096999-59097405	A549	lung:	n/a	n/a
4	POLR2A	chr1:59096937-59097281	HepG2	liver:	n/a	n/a
5	HEY1	chr1:59097053-59097371	K562	blood:	n/a	n/a
6	POLR2A	chr1:59097033-59097264	A549	lung:	n/a	n/a
7	POLR2A	chr1:59097118-59097244	GM12878	blood:	n/a	n/a
8	PAX5	chr1:59097072-59097267	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:59097123-59097248	H1-hESC	embryonic stem cell:	n/a	n/a
10	SP1	chr1:59097021-59097298	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:59097066-59097260	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:59097138-59097234	A549	lung:	n/a	n/a
13	POLR2A	chr1:59096975-59097438	K562	blood:	n/a	n/a
14	POLR2A	chr1:59097072-59097245	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:59096888-59097311	GM12892	blood:	n/a	n/a
16	POLR2A	chr1:59097136-59097232	HepG2	liver:	n/a	n/a
17	GABPA	chr1:59097125-59097244	HepG2	liver:	n/a	n/a
18	TAF1	chr1:59097104-59097255	HepG2	liver:	n/a	n/a
19	POLR2A	chr1:59097124-59097295	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:59096982-59097390	MCF-7	breast:	n/a	n/a
21	POLR2A	chr1:59097012-59097399	ProgFib	skin:	n/a	n/a
22	POLR2A	chr1:59097036-59097341	MCF-7	breast:	n/a	n/a
23	PBX3	chr1:59097130-59097251	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr1:59097126-59097263	HepG2	liver:	n/a	n/a
25	POLR2A	chr1:59097013-59097501	MCF-7	breast:	n/a	n/a
26	POLR2A	chr1:59097037-59097310	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:59097144-59097228	A549	lung:	n/a	n/a
28	GABPA	chr1:59097132-59097303	HepG2	liver:	n/a	n/a
29	POLR2A	chr1:59097130-59097240	A549	lung:	n/a	n/a
30	POLR2A	chr1:59096861-59097335	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:59096838-59097237	Hela-S3	cervix:	n/a	n/a
32	HEY1	chr1:59097022-59097289	HepG2	liver:	n/a	n/a
33	TAF1	chr1:59097086-59097269	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000185839	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs232771	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs232816	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs232915	0.82[CHB][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59086000-59100600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:59086400-59104000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:59087200-59101600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:59091600-59100400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:59093200-59115400	Weak transcription	NHEK	skin
6	chr1:59096000-59121600	Weak transcription	HUVEC	blood vessel
7	chr1:59096600-59121600	Weak transcription	Gastric	stomach
8	chr1:59097000-59097400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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