Variant report

Variant	rs2119758
Chromosome Location	chr13:67433635-67433636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:67397391..67400012-chr13:67432704..67434627,2	K562	blood:

Variant related genes	Relation type
ENSG00000228842	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1442005	1.00[ASW][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs17416460	0.94[CEU][hapmap];0.86[JPT][hapmap]
rs1998606	0.92[EUR][1000 genomes]
rs7350651	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs9540924	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9540932	0.87[ASN][1000 genomes]
rs9540934	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9540938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9540941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9540942	0.94[CEU][hapmap];0.89[GIH][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes]
rs956277	0.95[LWK][hapmap];0.84[MEX][hapmap];1.00[YRI][hapmap]
rs9564354	0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67429600-67433800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:67429600-67434800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:67430000-67434800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:67430200-67434200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:67431800-67436000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:67432600-67434200	Weak transcription	A549	lung
7	chr13:67432600-67435400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:67433200-67433800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:67433200-67433800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr13:67433200-67435200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:67433200-67435200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:67433200-67435200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:67433200-67435400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr13:67433200-67435400	Enhancers	Brain Substantia Nigra	brain
15	chr13:67433400-67433800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:67433400-67433800	Weak transcription	Brain Angular Gyrus	brain
17	chr13:67433400-67434000	Weak transcription	Brain Germinal Matrix	brain
18	chr13:67433400-67434200	Enhancers	HUVEC	blood vessel
19	chr13:67433400-67435400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:67433400-67435400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:67433400-67435400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr13:67433400-67435400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr13:67433400-67436600	Enhancers	Brain Hippocampus Middle	brain
24	chr13:67433600-67434800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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