Variant report

Variant	rs12651411
Chromosome Location	chr4:127760717-127760718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10434047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12054615	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12641500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12642562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12642699	0.93[ASN][1000 genomes]
rs12648133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130797	0.90[ASN][1000 genomes]
rs16997936	0.92[ASN][1000 genomes]
rs17011663	0.89[ASN][1000 genomes]
rs17011712	0.92[ASN][1000 genomes]
rs17011713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17011996	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012000	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012020	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012036	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012038	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17012040	0.82[AMR][1000 genomes]
rs1910441	1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2047858	0.89[ASN][1000 genomes]
rs56654496	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56822169	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58035425	1.00[ASN][1000 genomes]
rs58743449	0.88[ASN][1000 genomes]
rs58838664	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60595161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60715791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61031744	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61613462	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7697724	0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv879909	chr4:127646765-127792639	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv879910	chr4:127646765-127805466	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv879912	chr4:127706053-127775563	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3367258	chr4:127749396-127772702	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv428773	chr4:127760014-127913973	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127751000-127764000	Weak transcription	K562	blood
2	chr4:127759800-127760800	Enhancers	Osteobl	bone
3	chr4:127759800-127761000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:127760000-127761000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:127760000-127761000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:127760000-127761000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:127760000-127761000	Enhancers	NH-A	brain
8	chr4:127760000-127761200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:127760000-127761400	Enhancers	NHDF-Ad	bronchial
10	chr4:127760200-127760800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:127760200-127761200	Enhancers	NHLF	lung
12	chr4:127760400-127761200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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