Variant report

Variant	rs56283988
Chromosome Location	chr7:80787958-80787959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80786547..80788746-chr7:80790222..80791891,2	MCF-7	breast:
2	chr7:80545430..80553146-chr7:80785929..80793151,13	MCF-7	breast:
3	chr7:80783252..80785229-chr7:80787279..80788864,2	MCF-7	breast:
4	chr7:80570676..80574921-chr7:80787209..80790875,5	MCF-7	breast:
5	chr7:80643095..80644798-chr7:80786806..80789312,2	MCF-7	breast:
6	chr7:80786119..80788066-chr7:80797479..80799282,2	MCF-7	breast:
7	chr7:80546824..80550725-chr7:80786794..80792719,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11768393	0.94[AFR][1000 genomes]
rs11768454	0.94[AFR][1000 genomes]
rs11975298	0.94[AFR][1000 genomes]
rs11980049	0.94[AFR][1000 genomes]
rs11981116	0.94[AFR][1000 genomes]
rs11982217	0.94[AFR][1000 genomes]
rs11982242	0.94[AFR][1000 genomes]
rs17154873	0.94[AFR][1000 genomes]
rs4606001	0.94[AFR][1000 genomes]
rs55731316	1.00[AFR][1000 genomes]
rs55908333	1.00[AFR][1000 genomes]
rs56299732	0.94[AFR][1000 genomes]
rs56347546	0.94[AFR][1000 genomes]
rs56707960	1.00[AFR][1000 genomes]
rs56968902	0.84[AFR][1000 genomes]
rs57771152	1.00[AFR][1000 genomes]
rs58631170	1.00[AFR][1000 genomes]
rs60859227	0.94[AFR][1000 genomes]
rs73374738	0.94[AFR][1000 genomes]
rs73374770	1.00[AFR][1000 genomes]
rs73374792	0.97[AFR][1000 genomes]
rs73378438	0.90[AFR][1000 genomes]
rs73384458	0.86[AFR][1000 genomes]
rs73384473	1.00[AFR][1000 genomes]
rs73384478	0.86[AFR][1000 genomes]
rs73384485	0.94[AFR][1000 genomes]
rs73384500	0.94[AFR][1000 genomes]
rs73386404	0.94[AFR][1000 genomes]
rs7796420	0.94[AFR][1000 genomes]
rs996722	1.00[AFR][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	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv888556	chr7:80695828-80797794	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80780600-80791000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80781200-80790000	Weak transcription	HSMM	muscle
3	chr7:80783000-80788400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:80783000-80788600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:80783200-80788200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:80783400-80788000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:80784000-80788000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:80784200-80788600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:80784200-80789000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:80784400-80788800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:80785200-80790600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:80785200-80796400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:80785600-80790600	Weak transcription	HMEC	breast
14	chr7:80785600-80790600	Weak transcription	NH-A	brain
15	chr7:80785800-80790400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:80785800-80790600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:80786800-80788000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:80787400-80788400	Weak transcription	HepG2	liver
19	chr7:80787600-80788800	Enhancers	A549	lung
20	chr7:80787600-80792600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:80787800-80788200	Weak transcription	Fetal Kidney	kidney
22	chr7:80787800-80788800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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