Variant report

Variant	rs72720921
Chromosome Location	chr1:180490153-180490154
allele	A/C
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	chr1:180489708-180492117	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:180489712-180492297	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180489178..180492158-chr1:180598991..180600573,2	K562	blood:

Variant related genes	Relation type
ENSG00000206905	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10494528	0.83[EUR][1000 genomes]
rs10494529	0.83[EUR][1000 genomes]
rs1069436	0.80[EUR][1000 genomes]
rs10913988	0.83[EUR][1000 genomes]
rs10913991	0.83[EUR][1000 genomes]
rs10913992	0.83[EUR][1000 genomes]
rs10913995	0.81[EUR][1000 genomes]
rs10913996	0.83[EUR][1000 genomes]
rs10914004	0.83[EUR][1000 genomes]
rs10914012	0.83[EUR][1000 genomes]
rs11487431	0.83[EUR][1000 genomes]
rs12058221	0.83[EUR][1000 genomes]
rs12062561	0.83[EUR][1000 genomes]
rs12069389	0.83[EUR][1000 genomes]
rs12070624	0.83[EUR][1000 genomes]
rs12071353	0.83[EUR][1000 genomes]
rs12076995	0.83[EUR][1000 genomes]
rs12077656	0.83[EUR][1000 genomes]
rs12077791	0.83[EUR][1000 genomes]
rs12077839	0.83[EUR][1000 genomes]
rs12081494	0.81[EUR][1000 genomes]
rs12083900	0.83[EUR][1000 genomes]
rs12084039	0.83[EUR][1000 genomes]
rs12087325	0.83[EUR][1000 genomes]
rs12093073	0.83[EUR][1000 genomes]
rs1339721	0.83[EUR][1000 genomes]
rs2764433	0.80[EUR][1000 genomes]
rs4403592	0.83[EUR][1000 genomes]
rs55660948	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55912749	0.90[EUR][1000 genomes]
rs55962675	0.83[EUR][1000 genomes]
rs56079047	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56333717	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57424497	0.83[EUR][1000 genomes]
rs57493263	0.83[EUR][1000 genomes]
rs58145394	0.81[EUR][1000 genomes]
rs58369506	0.83[EUR][1000 genomes]
rs59357483	0.83[EUR][1000 genomes]
rs61024380	0.83[EUR][1000 genomes]
rs6425635	0.83[EUR][1000 genomes]
rs66619942	0.83[EUR][1000 genomes]
rs6663823	0.83[EUR][1000 genomes]
rs6667388	0.83[EUR][1000 genomes]
rs6670242	0.83[EUR][1000 genomes]
rs6676778	0.83[EUR][1000 genomes]
rs66913400	0.83[EUR][1000 genomes]
rs6696075	0.83[EUR][1000 genomes]
rs67071426	0.83[EUR][1000 genomes]
rs67621570	0.83[EUR][1000 genomes]
rs67716213	0.83[EUR][1000 genomes]
rs67830766	0.83[EUR][1000 genomes]
rs72714809	0.80[EUR][1000 genomes]
rs72714816	0.85[EUR][1000 genomes]
rs72714819	0.85[EUR][1000 genomes]
rs72714820	0.85[EUR][1000 genomes]
rs72714824	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72714859	0.85[EUR][1000 genomes]
rs72714872	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72714883	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72714890	0.90[EUR][1000 genomes]
rs72714891	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72714892	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72714894	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72714896	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72716605	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72716619	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72716624	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72716634	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72716637	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72720928	0.90[EUR][1000 genomes]
rs72720930	0.90[EUR][1000 genomes]
rs73037411	0.83[EUR][1000 genomes]
rs73048237	0.83[EUR][1000 genomes]
rs7542223	0.83[EUR][1000 genomes]
rs7552701	0.85[EUR][1000 genomes]
rs9662762	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
3	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180481800-180491200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:180485600-180490600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:180485600-180490600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:180485600-180490600	Weak transcription	K562	blood
5	chr1:180485600-180490800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:180485600-180490800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:180485600-180490800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:180485800-180490800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:180485800-180491200	Weak transcription	HSMMtube	muscle
10	chr1:180486000-180490600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:180486000-180490600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:180486000-180493400	Weak transcription	Fetal Stomach	stomach
13	chr1:180486000-180499400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:180486200-180490600	Weak transcription	A549	lung
15	chr1:180486400-180490600	Weak transcription	Hela-S3	cervix
16	chr1:180486400-180490600	Weak transcription	HMEC	breast
17	chr1:180486400-180490600	Weak transcription	NHEK	skin
18	chr1:180486400-180490800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:180486400-180490800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:180486400-180490800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:180486400-180493800	Weak transcription	Fetal Lung	lung
22	chr1:180487600-180490600	Weak transcription	Pancreas	Pancrea
23	chr1:180488000-180500400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:180488200-180492200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:180488600-180497000	Enhancers	Placenta	Placenta
26	chr1:180488800-180490800	Enhancers	HepG2	liver
27	chr1:180488800-180491800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:180489200-180490600	Weak transcription	Right Ventricle	heart
29	chr1:180489400-180490400	Weak transcription	Lung	lung
30	chr1:180489400-180490600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:180489400-180490600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:180489400-180490600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:180489400-180490600	Weak transcription	Right Atrium	heart
34	chr1:180489400-180490800	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:180489400-180494400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:180489800-180490600	Weak transcription	Left Ventricle	heart
37	chr1:180489800-180494400	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links