Variant report

Variant	rs334122
Chromosome Location	chr2:179055805-179055806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:179055680-179055830	AG10803	skin:	n/a	n/a
2	CTCF	chr2:179055680-179055830	HMF	breast:	n/a	n/a
3	CTCF	chr2:179055740-179055890	HPAF	blood vessel:	n/a	n/a
4	JUN	chr2:179055716-179055868	K562	blood:	n/a	n/a
5	CTCF	chr2:179055680-179055830	GM06990	blood:	n/a	n/a
6	CTCF	chr2:179055752-179055829	K562	blood:	n/a	n/a
7	CTCF	chr2:179055700-179055850	HMF	breast:	n/a	n/a
8	CTCF	chr2:179055680-179055830	HBMEC	blood vessel:	n/a	n/a
9	ZNF384	chr2:179055572-179056077	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179052165..179056550-chr2:179057804..179060174,6	MCF-7	breast:
2	chr2:179054368..179057331-chr2:179057745..179062443,7	K562	blood:
3	chr2:179054368..179057331-chr2:179058369..179060505,5	K562	blood:
4	chr2:178976327..178979048-chr2:179055214..179057976,2	K562	blood:

No data

Variant related genes	Relation type
OSBPL6	TF binding region
ENSG00000079156	Chromatin interaction
ENSG00000155636	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10187205	0.80[ASN][1000 genomes]
rs10930823	0.83[ASN][1000 genomes]
rs12693155	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13013858	0.84[ASN][1000 genomes]
rs13389850	0.85[ASN][1000 genomes]
rs17638592	0.91[ASN][1000 genomes]
rs186736	0.94[ASN][1000 genomes]
rs232042	0.82[ASN][1000 genomes]
rs2366365	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3099472	0.81[ASN][1000 genomes]
rs334079	0.93[ASN][1000 genomes]
rs334080	0.93[ASN][1000 genomes]
rs334081	0.82[ASN][1000 genomes]
rs334092	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs334094	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs334102	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334103	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334110	0.85[AFR][1000 genomes]
rs334115	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334116	0.82[ASN][1000 genomes]
rs334117	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334125	0.82[ASN][1000 genomes]
rs334126	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs334128	0.91[ASN][1000 genomes]
rs334132	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs334133	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35480930	0.83[ASN][1000 genomes]
rs407528	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs437385	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs437523	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4894001	0.81[ASN][1000 genomes]
rs7589907	0.84[ASN][1000 genomes]
rs7591476	0.81[ASN][1000 genomes]
rs7595650	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs930191	0.82[ASN][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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875453	chr2:179022751-179060313	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:179037000-179056600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:179052600-179057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:179055800-179056000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:179055800-179056000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr2:179055800-179056000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:179055800-179056000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr2:179055800-179056000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:179055800-179056000	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:179055800-179056000	Bivalent Enhancer	Fetal Lung	lung
10	chr2:179055800-179056200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr2:179055800-179056200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr2:179055800-179056200	Active TSS	Primary hematopoietic stem cells	blood
13	chr2:179055800-179056200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:179055800-179056200	Enhancers	K562	blood
15	chr2:179055800-179058000	Enhancers	Liver	Liver

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