Variant report

Variant	rs2468
Chromosome Location	chr6:161411449-161411450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr6:161411200-161412225	K562	blood:	n/a	n/a
2	IRF1	chr6:161411201-161414520	K562	blood:	n/a	chr6:161412699-161412713 chr6:161412677-161412691 chr6:161413152-161413166
3	POLR2A	chr6:161410637-161414109	IMR90	lung:	n/a	n/a
4	POLR2A	chr6:161410057-161414247	MCF10A-Er-Src	breast:	n/a	n/a
5	RFX5	chr6:161411122-161411680	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161409514..161411733-chr6:161434300..161435929,2	K562	blood:
2	chr6:161409929..161412719-chr6:161465318..161467396,2	K562	blood:
3	chr6:161407945..161411607-chr6:161664296..161666241,4	K562	blood:
4	chr6:161411372..161413087-chr6:161442452..161444110,2	K562	blood:
5	chr6:161349966..161354183-chr6:161410810..161413824,4	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGPAT4-1	chr6:161411382-161412758	NONHSAT115928
2	lnc-AGPAT4-1	chr6:161411350-161413374	ENSG00000272841.1

No data

Variant related genes	Relation type
MAP3K4	TF binding region
ENSG00000231863	Chromatin interaction
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13204034	1.00[ASN][1000 genomes]
rs13206940	1.00[ASN][1000 genomes]
rs13207108	1.00[ASN][1000 genomes]
rs28385633	1.00[ASN][1000 genomes]
rs35292081	1.00[ASN][1000 genomes]
rs3798906	0.81[ASN][1000 genomes]
rs6925141	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71565784	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71565785	1.00[ASN][1000 genomes]
rs73784705	1.00[ASN][1000 genomes]
rs9458066	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161408200-161411800	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:161410800-161411600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:161411000-161411600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:161411200-161411600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:161411200-161414000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:161411200-161414600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:161411400-161411600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:161411400-161411600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:161411400-161411600	Enhancers	K562	blood
10	chr6:161411400-161411800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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