Variant report

Variant	rs2132867
Chromosome Location	chr8:104138499-104138500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104135020..104140740-chr8:104310050..104312668,5	MCF-7	breast:
2	chr8:104135980..104138814-chr8:104426919..104429074,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164930	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000247081	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1113126	0.94[ASN][1000 genomes]
rs12545903	0.83[AMR][1000 genomes]
rs13274504	0.80[ASN][1000 genomes]
rs1497449	0.88[ASN][1000 genomes]
rs1497450	0.85[CEU][hapmap];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1497451	0.91[ASN][1000 genomes]
rs1497452	0.92[ASN][1000 genomes]
rs1846063	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1846064	0.92[ASN][1000 genomes]
rs1976326	1.00[ASN][1000 genomes]
rs2249240	0.85[CEU][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2249254	0.91[ASN][1000 genomes]
rs2249255	0.92[CEU][hapmap]
rs2249256	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2256164	0.81[ASN][1000 genomes]
rs2454000	0.92[ASN][1000 genomes]
rs2454001	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2454002	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2454003	0.84[CEU][hapmap];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2454004	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2454005	0.94[ASN][1000 genomes]
rs2454006	0.85[CEU][hapmap];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2454013	0.81[ASN][1000 genomes]
rs2454014	0.81[ASN][1000 genomes]
rs2454032	0.85[CEU][hapmap];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2454033	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2454036	0.85[CEU][hapmap];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2454037	0.85[CEU][hapmap];0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2454038	0.84[CEU][hapmap];0.90[ASN][1000 genomes]
rs2515175	0.85[CEU][hapmap];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2515176	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2515178	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2515181	0.92[CEU][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2515182	0.97[ASN][1000 genomes]
rs2515184	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2515186	0.92[ASN][1000 genomes]
rs2515190	0.88[ASN][1000 genomes]
rs2935579	0.88[ASN][1000 genomes]
rs2935593	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3019158	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3019159	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4734071	0.88[ASN][1000 genomes]
rs4734687	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4734689	0.88[ASN][1000 genomes]
rs4734690	0.88[ASN][1000 genomes]
rs61274078	0.85[AMR][1000 genomes]
rs7001897	0.88[ASN][1000 genomes]
rs7014418	0.85[ASN][1000 genomes]
rs72507596	0.83[AMR][1000 genomes]
rs72671377	0.80[AMR][1000 genomes]
rs953253	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs991312	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104132200-104139600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:104134400-104145000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:104135600-104139400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:104135800-104139400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:104135800-104139400	Weak transcription	Osteobl	bone
6	chr8:104136000-104143200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:104137600-104139200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:104137600-104139400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:104137600-104139600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:104137600-104142800	Weak transcription	NHDF-Ad	bronchial
11	chr8:104137800-104143600	Weak transcription	Brain Anterior Caudate	brain
12	chr8:104138000-104139200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:104138000-104141600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:104138000-104143800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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