Variant report

Variant	rs2594704
Chromosome Location	chr2:187570880-187570881
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	chr2:187558739..187560647-chr2:187570569..187572990,3	MCF-7	breast:
2	chr2:187569295..187572206-chr2:187573308..187575633,2	K562	blood:

Variant related genes	Relation type
ENSG00000227227	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1349170	1.00[EUR][1000 genomes]
rs1375447	0.92[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1449088	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449090	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1449091	0.92[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1470602	0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16828026	1.00[CHB][hapmap]
rs16828108	1.00[CHB][hapmap]
rs16828136	0.85[ASN][1000 genomes]
rs1839122	1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2122177	1.00[EUR][1000 genomes]
rs2167013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2247924	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2442316	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2442318	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2594702	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2594703	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2595379	0.84[ASW][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.89[MEX][hapmap];0.88[MKK][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2595388	1.00[EUR][1000 genomes]
rs2682852	0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682853	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682854	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682858	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2682859	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2682860	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2682861	0.92[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2682866	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682869	0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682870	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2682872	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3738918	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[MEX][hapmap]
rs3754584	1.00[CHB][hapmap]
rs4309547	1.00[EUR][1000 genomes]
rs57306419	1.00[EUR][1000 genomes]
rs59855103	1.00[EUR][1000 genomes]
rs6761687	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73035695	1.00[EUR][1000 genomes]
rs7556971	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs976693	0.92[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187560400-187579400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:187560600-187575400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:187560600-187582200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:187560600-187584200	Weak transcription	Fetal Lung	lung
5	chr2:187561400-187577800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:187567000-187574800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:187567400-187581400	Weak transcription	Fetal Brain Female	brain
8	chr2:187568600-187571800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:187569200-187571000	Enhancers	Brain Substantia Nigra	brain
10	chr2:187569400-187571200	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:187569600-187571000	Enhancers	Brain Anterior Caudate	brain
12	chr2:187570000-187572000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:187570000-187572400	Enhancers	Brain Angular Gyrus	brain
14	chr2:187570200-187578400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:187570600-187571000	Weak transcription	Fetal Brain Male	brain
16	chr2:187570600-187577600	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:187570600-187578800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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