Variant report

Variant	rs1517043
Chromosome Location	chr6:70939497-70939498
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:70935787..70939649-chr6:70943488..70947282,5	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1040655	0.85[CEU][hapmap]
rs1200562	0.86[GIH][hapmap]
rs1200564	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1200565	0.91[EUR][1000 genomes]
rs1200566	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1200567	0.88[EUR][1000 genomes]
rs16868641	1.00[CEU][hapmap];0.93[GIH][hapmap];0.88[EUR][1000 genomes]
rs16868806	0.85[CEU][hapmap]
rs1753251	0.86[GIH][hapmap]
rs17690121	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17692231	0.89[AMR][1000 genomes]
rs17692261	0.89[AMR][1000 genomes]
rs17692395	0.89[AMR][1000 genomes]
rs17747228	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs45486305	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs476026	1.00[CEU][hapmap];0.86[GIH][hapmap];0.88[EUR][1000 genomes]
rs476740	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs487928	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs540654	1.00[CEU][hapmap];0.93[GIH][hapmap];0.91[EUR][1000 genomes]
rs558856	0.88[EUR][1000 genomes]
rs577010	1.00[CEU][hapmap];0.93[GIH][hapmap];0.88[EUR][1000 genomes]
rs607716	1.00[CEU][hapmap];0.93[GIH][hapmap];0.88[EUR][1000 genomes]
rs661521	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6914511	0.85[CEU][hapmap];0.93[GIH][hapmap]
rs6923695	0.85[CEU][hapmap]
rs73746881	0.88[EUR][1000 genomes]
rs9446213	0.85[CEU][hapmap];0.93[GIH][hapmap]
rs9455013	0.85[CEU][hapmap];0.93[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026151	chr6:70621616-70946967	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv933674	chr6:70663616-70973112	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv830683	chr6:70743422-70941190	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70931400-70961400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:70932600-70951800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:70933000-70951800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:70933600-70947800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:70934400-70951600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:70938000-70939600	Enhancers	Fetal Brain Female	brain
7	chr6:70938200-70939600	Weak transcription	Fetal Stomach	stomach
8	chr6:70938400-70941000	Enhancers	Fetal Brain Male	brain
9	chr6:70939000-70951600	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links