Variant report

Variant	rs1834669
Chromosome Location	chr12:74710763-74710764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:74505191..74505755-chr12:74710574..74711440,3	MCF-7	breast:
2	chr12:74415312..74416230-chr12:74710631..74711359,2	MCF-7	breast:
3	chr12:74505235..74505774-chr12:74710528..74711393,3	K562	blood:
4	chr12:74694041..74696981-chr12:74709470..74713007,3	K562	blood:
5	chr12:74710734..74711407-chr12:74759142..74759810,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1019690	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1019692	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1019693	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1019694	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10879749	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10879759	0.88[ASN][1000 genomes]
rs11180007	0.82[ASN][1000 genomes]
rs11180015	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11180027	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11180036	0.95[ASN][1000 genomes]
rs11180049	0.88[ASN][1000 genomes]
rs11180057	0.83[ASN][1000 genomes]
rs11180063	0.83[ASN][1000 genomes]
rs11829422	0.88[ASN][1000 genomes]
rs11836857	0.94[ASN][1000 genomes]
rs12422910	0.95[ASN][1000 genomes]
rs1346248	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1365533	0.97[ASN][1000 genomes]
rs1365534	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1471296	0.83[ASN][1000 genomes]
rs17113224	0.94[ASN][1000 genomes]
rs17113335	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1820497	1.00[ASN][1000 genomes]
rs2012003	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2012005	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2162395	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2169290	0.83[ASN][1000 genomes]
rs2278189	1.00[ASN][1000 genomes]
rs4883488	0.94[ASN][1000 genomes]
rs4883489	0.94[ASN][1000 genomes]
rs57824910	0.87[AFR][1000 genomes]
rs66472931	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66504708	0.98[ASN][1000 genomes]
rs66512760	0.97[ASN][1000 genomes]
rs66514235	1.00[ASN][1000 genomes]
rs66661116	0.94[ASN][1000 genomes]
rs66756307	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66955885	0.94[ASN][1000 genomes]
rs67027369	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs67249120	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67283194	0.94[ASN][1000 genomes]
rs67436776	0.83[ASN][1000 genomes]
rs67452475	0.88[ASN][1000 genomes]
rs67619450	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67630387	0.89[ASN][1000 genomes]
rs67773463	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68026423	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68173977	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72652864	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72652865	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7295476	1.00[ASN][1000 genomes]
rs7299438	0.88[ASN][1000 genomes]
rs7305709	0.95[ASN][1000 genomes]
rs7398187	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899290	chr12:74666737-74729489	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv899291	chr12:74666737-74740958	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1051702	chr12:74674733-74732069	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv469473	chr12:74676381-74712896	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv559412	chr12:74676381-74712896	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv523765	chr12:74680999-74749476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74709800-74711200	Weak transcription	Ovary	ovary
2	chr12:74710200-74711400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:74710400-74711200	Enhancers	Brain Germinal Matrix	brain
4	chr12:74710400-74711200	Enhancers	Fetal Heart	heart
5	chr12:74710400-74711400	Enhancers	A549	lung
6	chr12:74710400-74713200	Enhancers	Brain Substantia Nigra	brain
7	chr12:74710600-74711000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:74710600-74711000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:74710600-74711400	Enhancers	Brain Anterior Caudate	brain
10	chr12:74710600-74712200	Enhancers	Brain Cingulate Gyrus	brain
11	chr12:74710600-74712200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr12:74710600-74712400	Enhancers	Brain Angular Gyrus	brain
13	chr12:74710600-74714200	Enhancers	Brain Hippocampus Middle	brain

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