Variant report

Variant	rs7530620
Chromosome Location	chr1:241869172-241869173
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:241868961..241870541-chr1:241927631..241929626,2	K562	blood:
2	chr1:241796539..241799251-chr1:241868228..241871889,3	K562	blood:
3	chr1:241861393..241864784-chr1:241868240..241872029,3	K562	blood:
4	chr1:241864491..241866562-chr1:241869052..241871917,4	MCF-7	breast:
5	chr1:241866993..241870450-chr1:241870800..241873707,3	K562	blood:
6	chr1:241861393..241865984-chr1:241866809..241872029,8	K562	blood:
7	chr1:241799109..241806555-chr1:241863719..241873987,19	MCF-7	breast:
8	chr1:241868172..241869866-chr1:241906945..241909756,2	MCF-7	breast:
9	chr1:241868637..241872305-chr1:241874250..241878079,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203668	Chromatin interaction
ENSG00000054277	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11576142	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11580123	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7417070	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241860400-241869400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:241865000-241870200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:241866600-241869600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:241866600-241869600	Weak transcription	HSMM	muscle
5	chr1:241866600-241870200	Enhancers	NHEK	skin
6	chr1:241866800-241869200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:241866800-241869200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:241866800-241869400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:241866800-241869400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:241866800-241869400	Weak transcription	NHDF-Ad	bronchial
11	chr1:241866800-241869400	Weak transcription	Osteobl	bone
12	chr1:241866800-241869600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:241867600-241869400	Weak transcription	Esophagus	oesophagus
14	chr1:241868000-241871600	Enhancers	HMEC	breast
15	chr1:241868800-241871800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:241869000-241869400	Weak transcription	Placenta	Placenta
17	chr1:241869000-241870600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:241869000-241871200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:241869000-241871800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:241869000-241871800	Enhancers	Hela-S3	cervix

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