Variant report

Variant	rs58727049
Chromosome Location	chr7:128076281-128076282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128075023..128077569-chr7:128095918..128098804,2	K562	blood:
2	chr7:128048480..128050287-chr7:128075489..128078227,2	MCF-7	breast:
3	chr7:128066083..128070069-chr7:128074107..128077404,7	MCF-7	breast:
4	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
5	chr7:128071934..128079559-chr7:128081793..128086197,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273184	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000238590	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1048531	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10954185	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11763326	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11764599	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11766743	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11769087	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11769168	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771063	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11771514	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540060	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12540762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864232	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288550	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2288554	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35501542	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3793164	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55706726	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57124454	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57715170	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62481099	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481100	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481103	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481115	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481116	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481123	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481124	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv1801356	chr7:128073366-128084133	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128071800-128078600	Weak transcription	Adipose Nuclei	Adipose
3	chr7:128073800-128083800	Weak transcription	Esophagus	oesophagus
4	chr7:128074600-128076400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:128075000-128076400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:128075000-128076400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:128075000-128076600	Enhancers	Fetal Lung	lung
8	chr7:128075600-128076400	Enhancers	Placenta	Placenta
9	chr7:128075600-128076400	Flanking Active TSS	A549	lung
10	chr7:128075600-128083600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:128075600-128093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:128075600-128093800	Weak transcription	Pancreas	Pancrea
13	chr7:128076000-128084000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:128076200-128080600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:128076200-128081800	Weak transcription	HepG2	liver

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