Variant report

Variant	rs12569047
Chromosome Location	chr1:150209755-150209756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150206581-150209771	GM12892	blood:	n/a	n/a
2	POLR2A	chr1:150206623-150209758	GM12892	blood:	n/a	n/a
3	POLR2A	chr1:150206623-150209914	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr1:150208094-150209777	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr1:150209188-150209777	U87	brain:	n/a	n/a
6	POLR2A	chr1:150207736-150209829	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:150207928-150209819	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:150206612-150209878	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150039411..150040952-chr1:150209636..150212635,2	K562	blood:
2	chr1:149980534..149984301-chr1:150205783..150209955,5	K562	blood:
3	chr1:150203436..150211066-chr1:150333611..150339492,20	K562	blood:
4	chr1:150207085..150210384-chr1:150292615..150294360,3	K562	blood:
5	chr1:150208859..150209839-chr11:62608992..62609573,2	Hela-S3	cervix:
6	chr1:150207289..150210046-chr1:150241185..150243177,3	MCF-7	breast:
7	chr1:150206250..150210524-chr1:150335148..150338813,9	MCF-7	breast:
8	chr1:150205879..150210456-chr1:150251557..150256195,8	MCF-7	breast:
9	chr1:149857476..149860799-chr1:150206355..150210783,8	K562	blood:
10	chr1:150207682..150210552-chr1:150291812..150294121,3	K562	blood:
11	chr1:150206959..150209855-chr1:150291649..150295634,4	MCF-7	breast:
12	chr1:150198495..150205043-chr1:150206226..150211170,11	MCF-7	breast:
13	chr1:150209725..150211414-chr1:150230060..150232543,2	K562	blood:
14	chr1:150205585..150209843-chr1:150227901..150231226,5	K562	blood:
15	chr1:150205053..150211036-chr1:150333116..150338498,15	K562	blood:
16	chr1:149858006..149859909-chr1:150206945..150210081,4	K562	blood:
17	chr1:150206579..150210456-chr1:150238390..150242863,9	MCF-7	breast:

No data

Variant related genes	Relation type
ANP32E	TF binding region
ENSG00000118298	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000271845	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000118292	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000159208	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000136631	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10788872	0.88[ASN][1000 genomes]
rs10888574	0.81[EUR][1000 genomes]
rs10888575	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10888576	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11205339	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11205340	0.88[ASN][1000 genomes]
rs11205343	0.90[ASN][1000 genomes]
rs11205347	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11205348	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11205350	0.81[EUR][1000 genomes]
rs11811787	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12131063	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12133235	0.88[ASN][1000 genomes]
rs12133238	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13374013	0.80[EUR][1000 genomes]
rs13374483	0.80[EUR][1000 genomes]
rs1535873	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1924549	0.96[ASN][1000 genomes]
rs2038752	0.92[ASN][1000 genomes]
rs2038753	0.93[ASN][1000 genomes]
rs3118124	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3121000	0.84[ASN][1000 genomes]
rs3121001	0.88[ASN][1000 genomes]
rs4408187	0.88[ASN][1000 genomes]
rs55647200	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55956539	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59507173	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61161619	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6587753	0.93[ASN][1000 genomes]
rs6655935	0.96[ASN][1000 genomes]
rs6660127	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6665499	0.88[ASN][1000 genomes]
rs6668679	0.81[EUR][1000 genomes]
rs6680040	0.88[ASN][1000 genomes]
rs6682434	0.89[ASN][1000 genomes]
rs6692738	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6694215	0.93[ASN][1000 genomes]
rs6703332	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7532164	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7535712	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7548543	0.93[ASN][1000 genomes]
rs7550600	0.87[EUR][1000 genomes]
rs7551023	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7555995	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150206400-150209800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:150207800-150209800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:150209000-150212000	Weak transcription	Lung	lung
4	chr1:150209200-150215400	Weak transcription	Right Atrium	heart
5	chr1:150209400-150209800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:150209400-150209800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:150209400-150209800	Enhancers	Fetal Thymus	thymus
8	chr1:150209400-150209800	Enhancers	HMEC	breast
9	chr1:150209400-150210400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:150209400-150212000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:150209600-150209800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:150209600-150209800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:150209600-150209800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:150209600-150210000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:150209600-150210200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:150209600-150210400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:150209600-150212000	Weak transcription	HepG2	liver
18	chr1:150209600-150212200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:150209600-150212400	Weak transcription	GM12878-XiMat	blood

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