Variant report

Variant	rs2275707
Chromosome Location	chr1:220088047-220088048
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220087259..220088963-chr1:220131481..220133238,2	K562	blood:
2	chr1:220087542..220090087-chr1:220090145..220094678,5	K562	blood:
3	chr1:220086369..220088921-chr1:220099411..220102847,4	K562	blood:

Variant related genes	Relation type
ENSG00000196660	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10495140	0.85[MKK][hapmap]
rs10863510	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11118467	0.84[EUR][1000 genomes]
rs1694592	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1694593	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1694594	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1694595	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1776029	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1776030	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1776043	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1776046	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1776050	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1776052	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1890295	0.85[MKK][hapmap]
rs2275706	1.00[JPT][hapmap]
rs2378331	0.94[CEU][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2647439	0.83[EUR][1000 genomes]
rs6541114	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6541115	0.81[ASN][1000 genomes]
rs6663638	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6663745	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7525274	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs947517	0.91[EUR][1000 genomes];0.97[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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1067840	chr1:219990803-220091941	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220077400-220088400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:220077400-220088600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:220081200-220088600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:220085400-220100000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:220086200-220097400	Genic enhancers	Liver	Liver
6	chr1:220086600-220088200	Weak transcription	K562	blood
7	chr1:220086600-220097400	Weak transcription	Fetal Brain Female	brain
8	chr1:220086800-220088400	Weak transcription	Brain Germinal Matrix	brain
9	chr1:220086800-220089400	Strong transcription	Fetal Intestine Large	intestine
10	chr1:220087000-220088600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:220087200-220097800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:220087200-220099600	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:220087400-220099600	Weak transcription	Brain Angular Gyrus	brain
14	chr1:220087600-220091000	Weak transcription	Fetal Brain Male	brain
15	chr1:220088000-220089400	Strong transcription	HepG2	liver

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