Variant report

Variant	rs6489241
Chromosome Location	chr12:123288739-123288740
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123236109..123238788-chr12:123287720..123289811,2	K562	blood:
2	chr12:123281712..123284269-chr12:123287784..123289384,2	K562	blood:

Variant related genes	Relation type
ENSG00000139726	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10773599	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847742	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847749	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847751	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847775	0.90[CEU][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11060152	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11503063	0.82[AMR][1000 genomes]
rs12369710	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1260121	1.00[CEU][hapmap]
rs12811036	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1671687	1.00[CEU][hapmap]
rs1696355	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs1798563	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1975761	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2649895	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2649896	1.00[CEU][hapmap]
rs2649900	0.87[EUR][1000 genomes]
rs2649903	1.00[CEU][hapmap]
rs2649914	0.81[EUR][1000 genomes]
rs2656812	1.00[CEU][hapmap]
rs3844369	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3852535	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4038070	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4038080	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4038081	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4307760	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4424710	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4426165	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759354	1.00[ASN][1000 genomes]
rs4759391	0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305256	0.86[EUR][1000 genomes]
rs7487095	0.90[EUR][1000 genomes]
rs7957643	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960548	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs839354	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs839356	0.81[EUR][1000 genomes]
rs839362	0.80[EUR][1000 genomes]
rs897386	0.82[CEU][hapmap]
rs967281	1.00[CEU][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9795629	1.00[CEU][hapmap];0.81[YRI][hapmap]

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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 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	chr12:123259400-123310600	Weak transcription	HSMMtube	muscle
2	chr12:123259800-123310600	Weak transcription	Brain Substantia Nigra	brain
3	chr12:123260000-123303600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:123264200-123290800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:123265600-123303600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:123266000-123303800	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:123274600-123288800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:123278600-123305600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:123284400-123297400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:123284600-123288800	Weak transcription	Gastric	stomach
11	chr12:123284600-123291000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:123284800-123293400	Weak transcription	Primary B cells from cord blood	blood
13	chr12:123284800-123297600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:123284800-123297600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:123286600-123303600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:123288000-123289200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:123288600-123289000	Enhancers	Pancreas	Pancrea
18	chr12:123288600-123289000	Enhancers	Stomach Mucosa	stomach

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