Variant report

Variant	rs1442004
Chromosome Location	chr13:67406087-67406088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1025850	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11616479	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11617188	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12428689	0.95[ASN][1000 genomes]
rs12429996	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12860004	0.91[ASN][1000 genomes]
rs12875661	0.98[ASN][1000 genomes]
rs12875687	0.98[ASN][1000 genomes]
rs1441996	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1442006	0.95[ASN][1000 genomes]
rs1530301	0.98[ASN][1000 genomes]
rs1561768	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1998607	0.98[ASN][1000 genomes]
rs2010695	0.95[ASN][1000 genomes]
rs2031350	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2165599	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2165600	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4884705	0.98[ASN][1000 genomes]
rs7358806	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs746273	0.98[ASN][1000 genomes]
rs9317615	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9317618	0.98[ASN][1000 genomes]
rs9317619	0.98[ASN][1000 genomes]
rs9317620	0.98[ASN][1000 genomes]
rs9529148	0.98[ASN][1000 genomes]
rs9540919	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9540936	0.95[ASN][1000 genomes]
rs9571678	0.98[ASN][1000 genomes]
rs9571679	0.95[ASN][1000 genomes]
rs9592488	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9592490	0.98[ASN][1000 genomes]
rs9592491	0.95[ASN][1000 genomes]
rs9599152	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9599157	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9972065	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041133	chr13:66723731-67530595	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1042768	chr13:67276493-67416565	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv523360	chr13:67322714-67520344	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1051576	chr13:67322747-67520255	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv900405	chr13:67347245-67446835	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1042756	chr13:67352439-67445867	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv430580	chr13:67352439-67468100	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv562136	chr13:67355618-67485147	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1051623	chr13:67377549-67465276	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv455933	chr13:67392298-67437316	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv562137	chr13:67392298-67437316	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr13:67404400-67406200	Enhancers	Primary B cells from peripheral blood	blood
2	chr13:67405000-67406200	Enhancers	Primary B cells from cord blood	blood
3	chr13:67405200-67406200	Enhancers	Brain Angular Gyrus	brain
4	chr13:67405200-67406200	Enhancers	Brain Anterior Caudate	brain
5	chr13:67405200-67406200	Enhancers	Brain Hippocampus Middle	brain
6	chr13:67405200-67406200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr13:67405600-67409000	Weak transcription	Fetal Kidney	kidney
8	chr13:67405800-67406200	Enhancers	A549	lung
9	chr13:67405800-67408400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr13:67405800-67409000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr13:67406000-67408400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr13:67406000-67408600	Weak transcription	Brain Substantia Nigra	brain
13	chr13:67406000-67408800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:67406000-67409200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:67406000-67409200	Weak transcription	Muscle Satellite Cultured Cells	--

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