Variant report

Variant	rs1020228
Chromosome Location	chr13:67376347-67376348
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1348217	1.00[EUR][1000 genomes]
rs1441999	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1442006	0.85[YRI][hapmap]
rs17081688	1.00[EUR][1000 genomes]
rs17081862	1.00[EUR][1000 genomes]
rs17081874	1.00[EUR][1000 genomes]
rs17081878	1.00[EUR][1000 genomes]
rs17081881	1.00[EUR][1000 genomes]
rs17081895	1.00[EUR][1000 genomes]
rs17081969	1.00[EUR][1000 genomes]
rs1998607	0.82[YRI][hapmap]
rs56184220	1.00[EUR][1000 genomes]
rs60134261	1.00[EUR][1000 genomes]
rs74093623	1.00[EUR][1000 genomes]
rs74093625	1.00[EUR][1000 genomes]
rs74093626	1.00[EUR][1000 genomes]
rs7983331	1.00[EUR][1000 genomes]
rs7989069	1.00[EUR][1000 genomes]
rs7990627	1.00[EUR][1000 genomes]
rs8000445	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9317614	0.81[YRI][hapmap]
rs9317615	0.81[YRI][hapmap]
rs9599161	0.85[YRI][hapmap]
rs973324	1.00[EUR][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:12 , 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	chr13:67374600-67376400	Enhancers	Brain Substantia Nigra	brain
4	chr13:67375600-67377200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:67375600-67377400	Weak transcription	Brain Angular Gyrus	brain
6	chr13:67375600-67378000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr13:67375800-67377000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr13:67375800-67377200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr13:67375800-67377200	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:67375800-67377400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr13:67375800-67377600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:67375800-67383600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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