Variant report

Variant	rs73041148
Chromosome Location	chr1:170101514-170101515
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	chr1:170096762..170100678-chr1:170100891..170103692,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10218486	1.00[AMR][1000 genomes]
rs10919276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919300	1.00[EUR][1000 genomes]
rs10919308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061373	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061626	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12071325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073288	1.00[EUR][1000 genomes]
rs12075569	1.00[EUR][1000 genomes]
rs12076018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077685	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12080056	0.82[AFR][1000 genomes]
rs12084420	1.00[AMR][1000 genomes]
rs12087450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091389	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2901261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4279900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57038529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73023529	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73023593	1.00[EUR][1000 genomes]
rs73041149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs989054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv999310	chr1:170065943-170223350	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 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	chr1:170100200-170102000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:170100400-170101800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:170100600-170101600	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr1:170100600-170101800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:170100600-170101800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:170100800-170102000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:170100800-170103400	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:170101000-170101800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:170101000-170104200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:170101200-170101600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:170101200-170101600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:170101400-170103200	Weak transcription	NHLF	lung

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