Variant report

Variant	rs11125166
Chromosome Location	chr2:48462924-48462925
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	chr2:48457105..48459838-chr2:48462699..48465520,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11125165	0.85[ASN][1000 genomes]
rs1396825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2128719	0.86[ASN][1000 genomes]
rs2136456	0.85[ASN][1000 genomes]
rs2348717	0.81[ASN][1000 genomes]
rs2348718	0.85[ASN][1000 genomes]
rs2882003	0.85[ASN][1000 genomes]
rs4146603	0.85[ASN][1000 genomes]
rs4952905	0.85[ASN][1000 genomes]
rs4953548	0.81[ASN][1000 genomes]
rs4953549	0.81[ASN][1000 genomes]
rs4953552	0.85[ASN][1000 genomes]
rs4953553	0.85[ASN][1000 genomes]
rs4953555	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4953556	0.85[ASN][1000 genomes]
rs4953557	0.85[ASN][1000 genomes]
rs58178746	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58525908	0.85[ASN][1000 genomes]
rs6545021	0.81[ASN][1000 genomes]
rs6545023	0.85[ASN][1000 genomes]
rs6712238	0.81[ASN][1000 genomes]
rs6718037	0.81[ASN][1000 genomes]
rs6722407	0.81[ASN][1000 genomes]
rs6723952	0.81[ASN][1000 genomes]
rs7570354	0.85[ASN][1000 genomes]
rs7589460	0.81[ASN][1000 genomes]
rs7605361	0.81[ASN][1000 genomes]
rs7609124	0.81[ASN][1000 genomes]
rs922902	1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs922903	0.81[ASN][1000 genomes]
rs9677729	0.85[ASN][1000 genomes]
rs973894	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs990063	0.85[ASN][1000 genomes]
rs990549	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1001850	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv535681	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48449400-48463400	Weak transcription	HUVEC	blood vessel
2	chr2:48455600-48463200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:48459600-48464800	Enhancers	HepG2	liver
4	chr2:48460600-48466000	Weak transcription	HMEC	breast
5	chr2:48461600-48464200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:48461800-48463000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:48461800-48464800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:48461800-48464800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr2:48462000-48464400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr2:48462000-48464800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:48462200-48463600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:48462400-48464200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:48462400-48464400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:48462600-48464400	Enhancers	Primary T helper cells fromperipheralblood	blood

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