Variant report

Variant	rs72723004
Chromosome Location	chr1:180664114-180664115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11487432	0.84[EUR][1000 genomes]
rs12089469	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17301405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17301581	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17301602	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17301762	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17301936	0.96[EUR][1000 genomes]
rs17302040	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17302075	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17302102	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17373425	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17373501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17373660	1.00[EUR][1000 genomes]
rs17374151	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55960112	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59077359	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809308	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809311	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809312	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809314	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809334	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61809342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61809353	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809354	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809355	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809356	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809357	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61809358	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811160	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811190	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811191	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811192	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811193	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811197	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811199	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811202	1.00[EUR][1000 genomes]
rs61811204	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811221	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811222	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61811223	0.96[EUR][1000 genomes]
rs61811224	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811225	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811227	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61811245	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61811248	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6664966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6674012	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681637	0.88[EUR][1000 genomes]
rs6697299	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72707419	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72707494	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72721001	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72723006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723010	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723014	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72723023	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723026	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723027	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723035	1.00[EUR][1000 genomes]
rs72723043	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2754432	chr1:180645343-180692343	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180633200-180672000	Weak transcription	K562	blood
2	chr1:180649000-180666200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:180650200-180665600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:180650200-180669800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:180652000-180672400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:180660800-180664200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr1:180661400-180665400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:180662200-180664400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:180662600-180664400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:180663000-180664200	Weak transcription	Primary T cells from cord blood	blood
11	chr1:180663400-180665600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:180663600-180664400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:180663800-180664400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:180663800-180664400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:180663800-180664600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:180664000-180664200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:180664000-180664400	Enhancers	HUES64 Cell Line	embryonic stem cell

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