Variant report

Variant	rs16829308
Chromosome Location	chr2:134537665-134537666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:134537299..134538123-chrX:12522089..12522834,2	MCF-7	breast:
2	chr2:134020208..134021163-chr2:134537454..134538295,5	MCF-7	breast:
3	chr2:134020760..134021325-chr2:134537400..134538161,2	K562	blood:
4	chr2:134277436..134277987-chr2:134537073..134537950,2	MCF-7	breast:
5	chr2:134537647..134538432-chr2:134601781..134602476,2	MCF-7	breast:
6	chr2:134325618..134326196-chr2:134537643..134538147,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176771	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1037137	0.85[ASN][1000 genomes]
rs10496712	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1374400	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1374402	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1446736	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1446750	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1446751	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1446753	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1596916	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1596917	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1596919	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16829241	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16829326	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16829360	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16829441	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16829478	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1867898	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2197605	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2874486	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2874496	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4056125	0.82[ASN][1000 genomes]
rs4101466	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4954078	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57830740	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6430455	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6759873	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72843293	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs731972	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs744129	0.81[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	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3443632	chr2:134536282-134540980	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134535400-134544600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:134535800-134537800	Weak transcription	Liver	Liver
3	chr2:134537000-134537800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:134537000-134537800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:134537000-134537800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:134537200-134537800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:134537200-134538200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:134537200-134538600	Enhancers	NHLF	lung
9	chr2:134537400-134537800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:134537400-134537800	Enhancers	Fetal Brain Male	brain
11	chr2:134537400-134538000	Enhancers	NH-A	brain
12	chr2:134537400-134538200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:134537400-134538200	Enhancers	Brain Cingulate Gyrus	brain
14	chr2:134537400-134538200	Enhancers	Fetal Heart	heart
15	chr2:134537400-134538200	Enhancers	Osteobl	bone
16	chr2:134537600-134537800	Enhancers	Hela-S3	cervix
17	chr2:134537600-134538200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:134537600-134538400	Enhancers	Fetal Lung	lung

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