Variant report

Variant	rs58833507
Chromosome Location	chr10:5571050-5571051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr10:5570526-5571055	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5564079..5566788-chr10:5568305..5571191,4	K562	blood:
2	chr10:5569024..5571700-chr10:5585605..5587727,2	K562	blood:
3	chr10:5569797..5572661-chr10:5572915..5577420,4	K562	blood:

Variant related genes	Relation type
ENSG00000256462	TF binding region
CALML3-AS1	TF binding region
ENSG00000205488	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4242793	1.00[AMR][1000 genomes]
rs4415657	1.00[AMR][1000 genomes]
rs4880730	1.00[AMR][1000 genomes]
rs56724201	1.00[AMR][1000 genomes]
rs56959063	1.00[AMR][1000 genomes]
rs59584726	1.00[AMR][1000 genomes]
rs59841593	1.00[AMR][1000 genomes]
rs60653996	1.00[AMR][1000 genomes]
rs7922103	1.00[AMR][1000 genomes]
rs9423432	1.00[AMR][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	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	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
7	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
8	nsv1049523	chr10:5542109-5619941	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv1052002	chr10:5544571-5619941	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1038479	chr10:5545773-5619941	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5564800-5576200	Enhancers	HepG2	liver
2	chr10:5567800-5580600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:5567800-5587000	Weak transcription	Right Atrium	heart
4	chr10:5568600-5571600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr10:5568800-5573600	Enhancers	Liver	Liver
6	chr10:5569400-5571200	Weak transcription	Stomach Mucosa	stomach
7	chr10:5569600-5572600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:5569600-5573200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:5569600-5573800	Weak transcription	NHEK	skin
10	chr10:5569600-5575800	Enhancers	Esophagus	oesophagus
11	chr10:5569800-5571200	Enhancers	K562	blood
12	chr10:5570000-5574000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:5570200-5572800	Weak transcription	Thymus	Thymus
14	chr10:5570600-5571400	Enhancers	Fetal Intestine Large	intestine
15	chr10:5570600-5571600	Enhancers	Placenta	Placenta
16	chr10:5570800-5573600	Enhancers	Colon Smooth Muscle	Colon
17	chr10:5570800-5578400	Enhancers	Fetal Muscle Leg	muscle
18	chr10:5571000-5571200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:5571000-5571400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr10:5571000-5571600	Enhancers	Aorta	Aorta
21	chr10:5571000-5571600	Enhancers	Pancreas	Pancrea
22	chr10:5571000-5571600	Enhancers	Psoas Muscle	Psoas
23	chr10:5571000-5572200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr10:5571000-5573600	Enhancers	Rectal Smooth Muscle	rectum
25	chr10:5571000-5575200	Weak transcription	Fetal Thymus	thymus

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