Variant report

Variant	rs2486279
Chromosome Location	chr15:45760370-45760371
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:45755369..45757808-chr15:45760218..45761718,2	MCF-7	breast:
2	chr15:45755098..45758040-chr15:45759580..45761169,2	K562	blood:
3	chr15:45694335..45695966-chr15:45759644..45761765,2	K562	blood:

Variant related genes	Relation type
ENSG00000171766	Chromatin interaction
ENSG00000171763	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs1005072	1.00[EUR][1000 genomes]
rs10851425	0.85[YRI][hapmap]
rs1153832	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs1153836	1.00[EUR][1000 genomes]
rs1153837	1.00[EUR][1000 genomes]
rs1153839	1.00[EUR][1000 genomes]
rs1153840	1.00[EUR][1000 genomes]
rs1153841	1.00[EUR][1000 genomes]
rs1153842	1.00[EUR][1000 genomes]
rs1153843	1.00[EUR][1000 genomes]
rs1153844	1.00[EUR][1000 genomes]
rs1288647	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288847	0.82[AMR][1000 genomes]
rs1288848	1.00[EUR][1000 genomes]
rs1288849	1.00[EUR][1000 genomes]
rs1288850	1.00[EUR][1000 genomes]
rs1288851	1.00[EUR][1000 genomes]
rs1288853	1.00[EUR][1000 genomes]
rs1288854	1.00[EUR][1000 genomes]
rs1288855	1.00[EUR][1000 genomes]
rs1288856	1.00[EUR][1000 genomes]
rs1288857	1.00[EUR][1000 genomes]
rs1288858	1.00[EUR][1000 genomes]
rs1288859	1.00[EUR][1000 genomes]
rs1288864	1.00[EUR][1000 genomes]
rs1295500	1.00[EUR][1000 genomes]
rs1295501	1.00[EUR][1000 genomes]
rs1426933	1.00[EUR][1000 genomes]
rs1426934	1.00[EUR][1000 genomes]
rs1529353	1.00[ASN][1000 genomes]
rs1529354	1.00[ASN][1000 genomes]
rs1547488	1.00[EUR][1000 genomes]
rs1547489	1.00[EUR][1000 genomes]
rs1547490	1.00[EUR][1000 genomes]
rs1559891	1.00[EUR][1000 genomes]
rs1559892	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629849	1.00[EUR][1000 genomes]
rs1629871	1.00[EUR][1000 genomes]
rs1648875	1.00[EUR][1000 genomes]
rs16943587	1.00[EUR][1000 genomes]
rs16943691	1.00[EUR][1000 genomes]
rs16943731	1.00[EUR][1000 genomes]
rs16944196	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16944305	1.00[ASN][1000 genomes]
rs1768457	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1834689	0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1834691	1.00[EUR][1000 genomes]
rs1970374	1.00[ASN][1000 genomes]
rs2059661	1.00[EUR][1000 genomes]
rs2059662	1.00[EUR][1000 genomes]
rs2412958	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433612	0.82[AMR][1000 genomes]
rs2433613	1.00[EUR][1000 genomes]
rs2433614	1.00[EUR][1000 genomes]
rs2433615	1.00[EUR][1000 genomes]
rs2433622	1.00[EUR][1000 genomes]
rs2433623	1.00[EUR][1000 genomes]
rs2433624	1.00[EUR][1000 genomes]
rs2433625	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433626	1.00[EUR][1000 genomes]
rs2433627	1.00[EUR][1000 genomes]
rs2433628	1.00[EUR][1000 genomes]
rs2453514	1.00[EUR][1000 genomes]
rs2453516	1.00[EUR][1000 genomes]
rs2453517	1.00[EUR][1000 genomes]
rs2453519	1.00[EUR][1000 genomes]
rs2453520	1.00[EUR][1000 genomes]
rs2453521	1.00[EUR][1000 genomes]
rs2453549	1.00[EUR][1000 genomes]
rs2467861	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467870	0.82[AMR][1000 genomes]
rs2467872	0.82[AMR][1000 genomes]
rs2467873	0.82[AMR][1000 genomes]
rs2467874	1.00[EUR][1000 genomes]
rs2467875	1.00[EUR][1000 genomes]
rs2467876	1.00[EUR][1000 genomes]
rs2467878	1.00[EUR][1000 genomes]
rs2467879	1.00[EUR][1000 genomes]
rs2467880	1.00[EUR][1000 genomes]
rs2467882	1.00[EUR][1000 genomes]
rs2467883	1.00[EUR][1000 genomes]
rs2467884	1.00[EUR][1000 genomes]
rs2467885	1.00[EUR][1000 genomes]
rs2467886	1.00[EUR][1000 genomes]
rs2467887	1.00[EUR][1000 genomes]
rs2467889	1.00[EUR][1000 genomes]
rs2486283	1.00[EUR][1000 genomes]
rs2486284	1.00[EUR][1000 genomes]
rs2486286	0.82[AMR][1000 genomes]
rs57255527	1.00[EUR][1000 genomes]
rs57421622	1.00[EUR][1000 genomes]
rs57668312	1.00[ASN][1000 genomes]
rs58694071	1.00[EUR][1000 genomes]
rs6493153	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7163098	1.00[ASN][1000 genomes]
rs7165846	1.00[ASN][1000 genomes]
rs7166434	1.00[ASN][1000 genomes]
rs7170941	1.00[ASN][1000 genomes]
rs73410550	1.00[EUR][1000 genomes]
rs73410575	1.00[EUR][1000 genomes]
rs73410577	1.00[EUR][1000 genomes]
rs73412436	1.00[EUR][1000 genomes]
rs73412437	1.00[EUR][1000 genomes]
rs73412438	1.00[EUR][1000 genomes]
rs73412440	1.00[EUR][1000 genomes]
rs73412443	1.00[EUR][1000 genomes]
rs73412445	1.00[EUR][1000 genomes]
rs73412447	1.00[EUR][1000 genomes]
rs73412449	1.00[EUR][1000 genomes]
rs73412452	1.00[EUR][1000 genomes]
rs73412453	1.00[EUR][1000 genomes]
rs73412454	1.00[EUR][1000 genomes]
rs73412456	1.00[EUR][1000 genomes]
rs73412457	1.00[EUR][1000 genomes]
rs73412459	1.00[EUR][1000 genomes]
rs73412460	1.00[EUR][1000 genomes]
rs73412462	1.00[EUR][1000 genomes]
rs73412463	1.00[EUR][1000 genomes]
rs73412466	1.00[EUR][1000 genomes]
rs73412467	1.00[EUR][1000 genomes]
rs73412470	1.00[EUR][1000 genomes]
rs73412473	1.00[EUR][1000 genomes]
rs73412479	1.00[EUR][1000 genomes]
rs73412484	1.00[EUR][1000 genomes]
rs73412488	1.00[EUR][1000 genomes]
rs73412490	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73414454	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73414486	1.00[ASN][1000 genomes]
rs73416403	1.00[ASN][1000 genomes]
rs73416407	1.00[ASN][1000 genomes]
rs7495403	1.00[ASN][1000 genomes]
rs8029983	1.00[ASN][1000 genomes]
rs8034420	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042179	1.00[ASN][1000 genomes]
rs937323	1.00[EUR][1000 genomes]
rs937324	1.00[EUR][1000 genomes]
rs937325	1.00[EUR][1000 genomes]
rs9672808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1523	chr15:45749900-45783825	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45750800-45781000	Weak transcription	Stomach Mucosa	stomach
2	chr15:45751200-45761200	Weak transcription	Fetal Intestine Small	intestine
3	chr15:45751200-45801600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:45754200-45801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:45756800-45761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr15:45757000-45794600	Weak transcription	Colonic Mucosa	Colon
7	chr15:45757000-45801800	Weak transcription	Gastric	stomach
8	chr15:45759800-45768600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:45760000-45761000	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr15:45760200-45760800	Enhancers	HSMMtube	muscle
11	chr15:45760200-45762400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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