Variant report

Variant	rs884957
Chromosome Location	chr6:73867050-73867051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:73865237..73867807-chr6:73877060..73879197,2	K562	blood:
2	6:73859137-73881637..6:73927031-73938730	Hela-S3	cervix:
3	chr11:73580836..73581458-chr6:73866841..73867761,2	MCF-7	breast:
4	6:73859137-73881637..6:74062967-74076046	GM12878	blood:
5	6:73859137-73881637..6:74099986-74112890	GM12878	blood:

Variant related genes	Relation type
ENSG00000080007	Chromatin interaction
ENSG00000203908	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000256980	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000224221	Chromatin interaction
ENSG00000203909	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1815726	0.80[EUR][1000 genomes]
rs1815728	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1815729	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1974369	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2027544	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2350387	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2350389	0.88[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35034898	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4235874	0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6453644	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6453645	0.96[CEU][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6453646	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6453648	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6453649	0.95[CEU][hapmap];0.90[JPT][hapmap]
rs6939575	0.89[JPT][hapmap];0.98[ASN][1000 genomes]
rs7747411	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7748250	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7748418	0.90[JPT][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7762949	0.94[CEU][hapmap];0.87[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7763514	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7769085	1.00[CEU][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap]
rs9343011	0.87[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs947747	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs947748	0.87[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	esv1004012	chr6:73866875-73870455	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73846400-73879200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:73854600-73867200	Weak transcription	Aorta	Aorta
3	chr6:73856600-73876600	Weak transcription	Primary B cells from cord blood	blood
4	chr6:73863200-73876400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:73863600-73878000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:73865000-73867200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:73866400-73867600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:73866400-73867800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr6:73866600-73867600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:73866600-73867600	Bivalent Enhancer	Placenta	Placenta
11	chr6:73866800-73867800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:73867000-73867800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:73867000-73869000	Strong transcription	Primary hematopoietic stem cells	blood
14	chr6:73867000-73884600	Weak transcription	Primary T cells from cord blood	blood

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