Variant report

Variant	rs4373427
Chromosome Location	chr7:12955819-12955820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12753829..12756201-chr7:12954275..12956490,2	K562	blood:
2	chr7:12954698..12957510-chr7:12961987..12963789,2	K562	blood:
3	chr7:12729465..12731915-chr7:12953468..12955831,4	K562	blood:

Variant related genes	Relation type
ENSG00000230879	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10264460	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10264633	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10269136	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10269685	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10278146	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10278405	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10488238	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10488241	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10488242	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11514702	0.97[ASN][1000 genomes]
rs12532561	0.97[ASN][1000 genomes]
rs12666515	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12673139	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13230205	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13240554	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17166499	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17166503	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17166504	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17166507	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17166509	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17166510	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17166514	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17166515	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17626895	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2024190	0.95[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs28611315	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34743284	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs35319380	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs41377448	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4570037	0.97[ASN][1000 genomes]
rs4591916	0.97[ASN][1000 genomes]
rs4719341	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4721154	0.80[AMR][1000 genomes]
rs4721157	0.88[ASN][1000 genomes]
rs4721158	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs57052689	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57923104	0.82[AMR][1000 genomes]
rs58376191	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61050317	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6957008	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73061960	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73061961	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73061966	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73061970	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73061974	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73063838	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73063839	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73063840	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73063841	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73063842	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73063844	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73063846	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73063847	0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73063848	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7795262	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7802804	0.88[ASN][1000 genomes]
rs9718616	0.97[ASN][1000 genomes]
rs975205	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs975206	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv464382	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv606237	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv464384	chr7:12907178-13077065	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv606238	chr7:12907178-13077065	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1026908	chr7:12944128-12959702	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12951200-12961600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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