Variant report

Variant	rs2283408
Chromosome Location	chr14:72700322-72700323
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72694736..72697580-chr14:72698002..72700652,3	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1012220	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10131012	0.83[JPT][hapmap]
rs10132818	0.96[CEU][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10134489	0.83[JPT][hapmap]
rs10134542	0.83[JPT][hapmap]
rs10136881	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10149098	0.86[JPT][hapmap]
rs10150159	0.82[JPT][hapmap]
rs10150242	0.83[JPT][hapmap]
rs11848300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12432346	0.86[JPT][hapmap]
rs12883593	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[EUR][1000 genomes]
rs12894979	0.81[CEU][hapmap]
rs1402058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1402061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520326	0.83[JPT][hapmap]
rs1520330	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1544487	0.86[JPT][hapmap]
rs1558073	0.83[JPT][hapmap]
rs17769097	0.93[CEU][hapmap];0.91[CHB][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1949560	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1949561	0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2079502	0.83[JPT][hapmap]
rs2108466	0.83[JPT][hapmap]
rs2108467	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2190627	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2238212	0.83[JPT][hapmap]
rs2238213	0.83[JPT][hapmap]
rs2238217	0.83[JPT][hapmap]
rs2238218	0.83[JPT][hapmap]
rs2238227	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2238243	0.85[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2238244	0.89[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2239257	0.86[JPT][hapmap]
rs2239258	0.83[JPT][hapmap]
rs2239261	0.83[JPT][hapmap]
rs2283406	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2283407	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2283409	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332806	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2332807	0.86[JPT][hapmap]
rs2332808	0.83[JPT][hapmap]
rs28678452	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3784049	0.83[JPT][hapmap]
rs4903004	0.83[JPT][hapmap]
rs6574055	0.86[JPT][hapmap]
rs6574057	0.83[JPT][hapmap]
rs7141299	0.96[CEU][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7157673	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7350728	0.86[JPT][hapmap]
rs740337	0.86[JPT][hapmap]
rs763507	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8007566	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8007922	0.86[JPT][hapmap]
rs847241	0.83[JPT][hapmap]
rs847345	0.83[JPT][hapmap]
rs977340	0.96[CEU][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1041492	chr14:72634606-72768970	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv977614	chr14:72696106-72702781	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72687800-72705800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72699600-72700600	Enhancers	Left Ventricle	heart
3	chr14:72699800-72700600	Enhancers	Right Atrium	heart
4	chr14:72699800-72700800	Enhancers	Fetal Heart	heart
5	chr14:72699800-72719600	Weak transcription	Right Ventricle	heart
6	chr14:72700200-72700600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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