Variant report

Variant	rs3130016
Chromosome Location	chr6:33296230-33296231
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33285330..33286875-chr6:33295909..33298718,2	K562	blood:
2	chr6:33290607..33292474-chr6:33296152..33298353,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204209	Chromatin interaction
ENSG00000236104	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1014779	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1061783	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1800838	0.87[ASN][1000 genomes]
rs2013891	0.81[AMR][1000 genomes]
rs2071888	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2071889	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2395379	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2894334	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3106190	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3106195	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130018	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130099	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130100	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3130101	0.84[EUR][1000 genomes]
rs3130102	0.86[EUR][1000 genomes]
rs3130262	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3130263	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130264	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3130265	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3130266	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130267	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3130269	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3130270	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3130271	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3135405	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3135407	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3135408	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3135409	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs456261	0.80[EUR][1000 genomes]
rs9277968	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
3	esv10737	chr6:33289511-33296285	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	esv3517091	chr6:33291574-33296772	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3517093	chr6:33291947-33297217	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv3330941	chr6:33292074-33297072	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33291800-33317400	Weak transcription	Right Atrium	heart
2	chr6:33292000-33296600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:33292000-33296600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:33292000-33296800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:33292800-33298200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:33292800-33300200	Weak transcription	GM12878-XiMat	blood
7	chr6:33292800-33301800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:33294000-33297000	Weak transcription	Primary B cells from cord blood	blood
9	chr6:33295800-33296800	Weak transcription	Primary B cells from peripheral blood	blood

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