Variant report

Variant	rs757654
Chromosome Location	chr14:72980917-72980918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:72978689..72981168-chr14:73372194..73374592,2	MCF-7	breast:
2	chr14:72979398..72981637-chr14:73392231..73394400,2	MCF-7	breast:
3	chr14:72980481..72981489-chr14:73371478..73372375,4	MCF-7	breast:
4	chr14:72979616..72982412-chr14:73369976..73371945,2	MCF-7	breast:
5	chr14:72980586..72981543-chr14:73371364..73372302,6	MCF-7	breast:
6	chr14:72939695..72940254-chr14:72980478..72981117,2	MCF-7	breast:
7	chr14:72973637..72975847-chr14:72979914..72981632,2	MCF-7	breast:
8	chr14:72980402..72983329-chr14:73011655..73014017,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119599	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10131083	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10138138	0.85[EUR][1000 genomes]
rs10147108	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[EUR][1000 genomes]
rs1017082	0.92[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1017083	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158960	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11620663	0.91[EUR][1000 genomes]
rs11621407	0.87[EUR][1000 genomes]
rs11621791	0.87[EUR][1000 genomes]
rs11622246	0.87[EUR][1000 genomes]
rs11622509	0.88[EUR][1000 genomes]
rs11623039	0.92[EUR][1000 genomes]
rs11623448	0.90[EUR][1000 genomes]
rs11623449	0.90[EUR][1000 genomes]
rs11626185	0.90[EUR][1000 genomes]
rs11628659	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11629448	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[EUR][1000 genomes]
rs11844952	0.87[EUR][1000 genomes]
rs1468334	0.84[JPT][hapmap]
rs17180712	0.90[EUR][1000 genomes]
rs1859475	0.86[EUR][1000 genomes]
rs2023957	0.91[EUR][1000 genomes]
rs2238171	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2238174	0.92[JPT][hapmap];0.87[EUR][1000 genomes]
rs2238175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2238176	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2286072	0.90[EUR][1000 genomes]
rs28499014	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28698186	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28788858	0.94[EUR][1000 genomes]
rs3784044	0.83[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4346151	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4419001	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[EUR][1000 genomes]
rs4617784	0.97[EUR][1000 genomes]
rs4617785	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5008274	0.83[CHB][hapmap];0.90[EUR][1000 genomes]
rs56989014	0.87[EUR][1000 genomes]
rs57126808	0.86[EUR][1000 genomes]
rs58049100	0.87[EUR][1000 genomes]
rs59911600	0.99[EUR][1000 genomes]
rs7144114	1.00[CEU][hapmap];0.83[CHB][hapmap];0.97[EUR][1000 genomes]
rs7144560	0.90[EUR][1000 genomes]
rs7161138	0.92[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7161176	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[EUR][1000 genomes]
rs7161290	0.97[EUR][1000 genomes]
rs7161351	0.92[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73300706	0.86[EUR][1000 genomes]
rs7493857	0.90[EUR][1000 genomes]
rs757653	0.84[JPT][hapmap]
rs8008812	0.91[EUR][1000 genomes]
rs8009340	0.92[JPT][hapmap];0.85[EUR][1000 genomes]
rs8009343	0.83[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8010440	0.92[JPT][hapmap];0.84[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	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	esv1843592	chr14:72967991-73007547	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72979400-72995400	Weak transcription	Left Ventricle	heart
2	chr14:72979600-72981400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:72979600-72984200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:72979800-72983600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:72980000-72981400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:72980200-72981400	Enhancers	Fetal Stomach	stomach
7	chr14:72980200-72981800	Enhancers	Fetal Muscle Leg	muscle
8	chr14:72980200-72982000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:72980200-72983800	Weak transcription	Fetal Brain Male	brain
10	chr14:72980400-72981400	Enhancers	Fetal Muscle Trunk	muscle
11	chr14:72980400-72981600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:72980400-72981800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:72980400-72983200	Weak transcription	Adipose Nuclei	Adipose
14	chr14:72980600-72981400	Enhancers	Primary B cells from peripheral blood	blood
15	chr14:72980600-72981400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:72980600-72981400	Enhancers	Ovary	ovary
17	chr14:72980600-72981400	Enhancers	HSMMtube	muscle
18	chr14:72980600-72982000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:72980600-72982000	Enhancers	GM12878-XiMat	blood
20	chr14:72980600-72983400	Weak transcription	Colonic Mucosa	Colon
21	chr14:72980600-72984000	Weak transcription	Spleen	Spleen
22	chr14:72980800-72981200	Enhancers	NH-A	brain
23	chr14:72980800-72983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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