Variant report

Variant	rs230722
Chromosome Location	chr14:65317873-65317874
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65315035..65317899-chr14:65322274..65327051,4	MCF-7	breast:
2	chr14:65317600..65319919-chr14:65379346..65381872,2	MCF-7	breast:
3	chr14:65306058..65308869-chr14:65317790..65319964,2	MCF-7	breast:
4	chr14:65310132..65314457-chr14:65315119..65319141,7	K562	blood:
5	chr14:65315994..65317932-chr14:65325129..65327129,2	K562	blood:
6	chr14:65309823..65312590-chr14:65316420..65318334,2	MCF-7	breast:
7	chr14:65301529..65304426-chr14:65315345..65318109,2	K562	blood:

Variant related genes	Relation type
ENSG00000125954	Chromatin interaction
ENSG00000258289	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1003370	0.97[EUR][1000 genomes]
rs10151551	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10162522	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1122339	0.97[EUR][1000 genomes]
rs11844283	0.82[EUR][1000 genomes]
rs12147448	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1951489	0.82[EUR][1000 genomes]
rs1957422	0.82[EUR][1000 genomes]
rs1957430	0.97[EUR][1000 genomes]
rs1957433	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1983769	0.82[EUR][1000 genomes]
rs2104170	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs230721	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs368818	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs374461	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs375797	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs378391	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs3813424	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs389370	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs395112	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs397901	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs399508	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs406811	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs424222	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs426044	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs435006	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs435335	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899151	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4902323	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902324	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58989463	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61989891	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6573584	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs7149121	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7149446	0.82[EUR][1000 genomes]
rs7158624	0.82[EUR][1000 genomes]
rs762072	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008229	0.97[EUR][1000 genomes]
rs8013371	0.92[EUR][1000 genomes]
rs8022462	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9323455	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9323456	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65311800-65318200	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr14:65314600-65318800	Weak transcription	Right Atrium	heart
3	chr14:65314800-65318000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:65314800-65318800	Weak transcription	Fetal Heart	heart
5	chr14:65314800-65319000	Weak transcription	Right Ventricle	heart
6	chr14:65315000-65318800	Weak transcription	K562	blood
7	chr14:65315400-65324600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:65316400-65318000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr14:65316600-65318200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:65317400-65318800	Weak transcription	Left Ventricle	heart
11	chr14:65317400-65320000	Weak transcription	Psoas Muscle	Psoas

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