Variant report

Variant	rs1442000
Chromosome Location	chr13:67375673-67375674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1041025	1.00[AMR][1000 genomes]
rs1323921	1.00[AMR][1000 genomes]
rs1323925	1.00[AMR][1000 genomes]
rs1323928	1.00[AMR][1000 genomes]
rs1441997	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs1442007	0.91[MKK][hapmap];1.00[AMR][1000 genomes]
rs1442017	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs169001	1.00[AMR][1000 genomes]
rs1886314	0.88[MKK][hapmap];0.85[YRI][hapmap]
rs1975434	1.00[YRI][hapmap]
rs2038721	1.00[AMR][1000 genomes]
rs2053498	0.85[YRI][hapmap]
rs2181755	1.00[AMR][1000 genomes]
rs2181881	1.00[AMR][1000 genomes]
rs2181882	1.00[AMR][1000 genomes]
rs2324989	0.85[MKK][hapmap];1.00[AMR][1000 genomes]
rs260171	1.00[AMR][1000 genomes]
rs2875515	1.00[AMR][1000 genomes]
rs4883791	0.87[LWK][hapmap];0.87[MKK][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs4884703	1.00[AMR][1000 genomes]
rs4884709	1.00[AMR][1000 genomes]
rs4884710	1.00[AMR][1000 genomes]
rs6562477	1.00[AMR][1000 genomes]
rs6562479	1.00[AMR][1000 genomes]
rs6562480	1.00[AMR][1000 genomes]
rs7322333	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7322354	1.00[AMR][1000 genomes]
rs7328555	1.00[AMR][1000 genomes]
rs7984929	1.00[AMR][1000 genomes]
rs7986118	1.00[AMR][1000 genomes]
rs7986616	1.00[AMR][1000 genomes]
rs7986875	1.00[AMR][1000 genomes]
rs7988442	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7997315	1.00[AMR][1000 genomes]
rs7998136	0.88[MKK][hapmap];0.85[YRI][hapmap]
rs8000196	1.00[AMR][1000 genomes]
rs9529144	1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap]
rs9540962	1.00[AMR][1000 genomes]
rs9540963	1.00[AMR][1000 genomes]
rs958503	1.00[AMR][1000 genomes]
rs958743	1.00[AMR][1000 genomes]
rs9599166	1.00[AMR][1000 genomes]
rs974880	1.00[AMR][1000 genomes]
rs974881	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv455928	chr13:67212422-67392298	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv562131	chr13:67212422-67392298	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	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
6	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
7	nsv900402	chr13:67269546-67379709	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	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
9	nsv1043110	chr13:67317744-67376453	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1043370	chr13:67318209-67377609	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	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
12	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
13	nsv900404	chr13:67325786-67392298	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	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
15	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
16	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
17	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67370400-67377600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:67374400-67376400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr13:67374600-67375800	Enhancers	Brain Cingulate Gyrus	brain
4	chr13:67374600-67376000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:67374600-67376400	Enhancers	Brain Substantia Nigra	brain
6	chr13:67375000-67375800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr13:67375000-67375800	Enhancers	Brain Hippocampus Middle	brain
8	chr13:67375000-67375800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr13:67375400-67375800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:67375400-67375800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr13:67375600-67375800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:67375600-67377200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr13:67375600-67377400	Weak transcription	Brain Angular Gyrus	brain
14	chr13:67375600-67378000	Weak transcription	H1 Cell Line	embryonic stem cell

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