Variant report

Variant	rs3130004
Chromosome Location	chr6:33328893-33328894
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33283911..33285602-chr6:33327054..33329692,2	K562	blood:
2	chr6:33239559..33241561-chr6:33327024..33329946,2	K562	blood:
3	chr6:33328288..33333241-chr6:33333249..33338819,6	K562	blood:
4	chr6:33285455..33287080-chr6:33328644..33330350,2	K562	blood:
5	chr6:33238627..33241561-chr6:33327024..33329946,3	K562	blood:
6	chr6:33280542..33282633-chr6:33328249..33329859,2	MCF-7	breast:
7	chr6:33278819..33285671-chr6:33324194..33330069,12	MCF-7	breast:
8	chr6:33324046..33327931-chr6:33328359..33332196,5	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000228285	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000223501	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs211454	0.82[ASN][1000 genomes]
rs2136778	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3106188	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3106192	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3117323	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3130002	0.82[AMR][1000 genomes]
rs3130008	0.88[ASN][1000 genomes]
rs3130009	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3130010	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3130274	0.82[AMR][1000 genomes]
rs3130275	0.82[AMR][1000 genomes]
rs583129	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9278009	0.81[AMR][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	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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33322000-33332200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:33324400-33332600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:33324600-33340200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:33326200-33329600	Weak transcription	Stomach Mucosa	stomach
5	chr6:33327600-33332000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:33327800-33329200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:33327800-33332000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:33328000-33329400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:33328000-33330600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:33328200-33332200	Weak transcription	A549	lung
11	chr6:33328400-33330600	Weak transcription	K562	blood
12	chr6:33328600-33332000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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