Variant report

Variant	rs60482546
Chromosome Location	chr21:37840789-37840790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37799494..37804854-chr21:37840496..37845588,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230479	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1994460	0.89[EUR][1000 genomes]
rs2835350	0.89[EUR][1000 genomes]
rs35558907	0.89[EUR][1000 genomes]
rs55671293	0.89[EUR][1000 genomes]
rs55933349	0.89[EUR][1000 genomes]
rs60419768	0.89[EUR][1000 genomes]
rs73902514	0.89[EUR][1000 genomes]
rs73902521	0.89[EUR][1000 genomes]
rs73902525	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv33286	chr21:37827016-37861556	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv587470	chr21:37834641-37872447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr21:37834400-37842600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:37834800-37841600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr21:37834800-37842400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr21:37835000-37842000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:37837200-37842800	Weak transcription	Esophagus	oesophagus
6	chr21:37837400-37843200	Weak transcription	A549	lung
7	chr21:37837600-37842400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr21:37838000-37842000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr21:37838000-37842400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr21:37838000-37842400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:37838000-37842400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr21:37838000-37850800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:37838200-37843400	Weak transcription	NHEK	skin
14	chr21:37838200-37849200	Weak transcription	Right Atrium	heart
15	chr21:37838400-37842400	Weak transcription	NH-A	brain
16	chr21:37838400-37842600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:37838400-37842800	Weak transcription	Liver	Liver
18	chr21:37838400-37843200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:37838400-37843400	Weak transcription	Osteobl	bone
20	chr21:37839600-37846000	Weak transcription	HUVEC	blood vessel
21	chr21:37839800-37842600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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