Variant report

Variant	rs4880730
Chromosome Location	chr10:5511648-5511649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5457835..5459724-chr10:5509627..5512091,2	K562	blood:
2	chr10:5509879..5512674-chr10:5590526..5592365,2	K562	blood:
3	chr10:5510684..5513291-chr10:5545765..5548111,2	K562	blood:
4	chr10:5496908..5513504-chr10:5583876..5597686,82	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10450530	1.00[AMR][1000 genomes]
rs10450531	1.00[AMR][1000 genomes]
rs4242793	1.00[AMR][1000 genomes]
rs4415657	1.00[AMR][1000 genomes]
rs56724201	1.00[AMR][1000 genomes]
rs56959063	1.00[AMR][1000 genomes]
rs58833507	1.00[AMR][1000 genomes]
rs59584726	1.00[AMR][1000 genomes]
rs59841593	1.00[AMR][1000 genomes]
rs60653996	1.00[AMR][1000 genomes]
rs7082910	0.91[AFR][1000 genomes]
rs7904871	1.00[AMR][1000 genomes]
rs7922103	1.00[AMR][1000 genomes]
rs9423432	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv831774	chr10:5463556-5657421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv894797	chr10:5499173-5558349	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1051283	chr10:5505474-5619941	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5502800-5512200	Weak transcription	Gastric	stomach
2	chr10:5503000-5512400	Enhancers	Placenta	Placenta
3	chr10:5507600-5512000	Enhancers	Esophagus	oesophagus
4	chr10:5509000-5511800	Weak transcription	Primary T cells from cord blood	blood
5	chr10:5509000-5512200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:5509400-5519000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:5509600-5512800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:5509800-5512600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr10:5510400-5512800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:5510400-5512800	Genic enhancers	K562	blood
11	chr10:5510600-5511800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr10:5510800-5511800	Enhancers	Adipose Nuclei	Adipose
13	chr10:5510800-5511800	Enhancers	Fetal Muscle Trunk	muscle
14	chr10:5510800-5512000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:5510800-5512200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr10:5511200-5520000	Weak transcription	Stomach Mucosa	stomach
17	chr10:5511400-5512200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr10:5511400-5512400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:5511400-5512400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:5511400-5527000	Weak transcription	Spleen	Spleen
21	chr10:5511600-5516800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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