Variant report

Variant	rs2182999
Chromosome Location	chr6:70945905-70945906
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	chr6:70935787..70939649-chr6:70943488..70947282,5	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs113979	0.85[AMR][1000 genomes]
rs1200562	0.86[JPT][hapmap]
rs1200579	0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1200580	0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12153874	0.96[EUR][1000 genomes]
rs12153902	0.96[EUR][1000 genomes]
rs12191701	0.96[EUR][1000 genomes]
rs12195968	0.95[EUR][1000 genomes]
rs12209857	0.95[EUR][1000 genomes]
rs12213613	0.92[EUR][1000 genomes]
rs1517046	0.86[JPT][hapmap]
rs16868656	0.86[JPT][hapmap]
rs1753208	0.83[AMR][1000 genomes]
rs1753251	0.86[JPT][hapmap]
rs2024730	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2076816	0.82[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs2176356	0.96[EUR][1000 genomes]
rs3806072	0.86[JPT][hapmap]
rs500457	0.87[AMR][1000 genomes]
rs506908	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs507676	0.87[AMR][1000 genomes]
rs514586	0.86[JPT][hapmap]
rs515597	0.86[JPT][hapmap]
rs516166	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs519068	0.87[AMR][1000 genomes]
rs528080	0.85[AMR][1000 genomes]
rs534258	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs538588	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544179	0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs546628	0.86[AMR][1000 genomes]
rs555663	1.00[CHB][hapmap];0.99[ASN][1000 genomes]
rs558181	1.00[CHB][hapmap];0.99[ASN][1000 genomes]
rs590656	1.00[CHB][hapmap];0.99[ASN][1000 genomes]
rs59322080	0.95[EUR][1000 genomes]
rs609454	0.86[JPT][hapmap]
rs612668	0.86[JPT][hapmap]
rs613109	0.86[JPT][hapmap]
rs657572	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6910140	0.86[JPT][hapmap]
rs6919444	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922941	0.96[EUR][1000 genomes]
rs6932776	0.96[EUR][1000 genomes]
rs701686	0.87[AMR][1000 genomes]
rs701693	0.86[AMR][1000 genomes]
rs7741471	0.91[EUR][1000 genomes]
rs7759110	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:8 , 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	chr6:70939000-70951600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:70943000-70946400	Weak transcription	Fetal Brain Male	brain
8	chr6:70944200-70947000	Enhancers	Fetal Stomach	stomach

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