Variant report

Variant	rs11590118
Chromosome Location	chr1:228187196-228187197
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:228182718..228186056-chr1:228186655..228189573,4	K562	blood:
2	chr1:228186839..228187767-chr1:228400924..228402001,3	MCF-7	breast:
3	chr1:228186731..228187465-chr1:228367749..228368702,2	MCF-7	breast:
4	chr1:228187026..228189244-chr1:228193592..228196909,3	MCF-7	breast:
5	chr1:228182608..228184218-chr1:228185823..228188577,2	K562	blood:
6	chr1:228186754..228188818-chr1:228253056..228255508,2	MCF-7	breast:
7	chr1:228186682..228187204-chr1:228524681..228525438,2	K562	blood:
8	chr1:228186815..228187699-chr1:228261306..228261863,3	MCF-7	breast:
9	chr1:228186773..228188651-chr1:228270105..228272144,2	MCF-7	breast:
10	chr1:228186714..228188137-chr1:228289568..228290450,5	MCF-7	breast:
11	chr1:228186863..228187397-chr1:228250324..228251140,2	MCF-7	breast:
12	chr1:228186659..228187602-chr1:228289825..228290605,2	MCF-7	breast:
13	chr1:228185587..228188986-chr1:228190632..228193211,3	MCF-7	breast:
14	chr1:228185813..228188454-chr1:228247740..228249945,2	MCF-7	breast:
15	chr1:228186931..228189875-chr1:228260382..228263090,3	MCF-7	breast:
16	chr1:228185727..228187297-chr1:228352308..228354949,2	K562	blood:
17	chr1:228185172..228187867-chr1:228295198..228298113,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154342	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000162913	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000162910	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10495278	0.82[CHB][hapmap]
rs10916262	1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11577983	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578623	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579417	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs11579725	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11580654	0.84[EUR][1000 genomes]
rs11580665	0.82[CHB][hapmap];0.82[EUR][1000 genomes]
rs11581915	0.82[EUR][1000 genomes]
rs11582265	0.80[ASN][1000 genomes]
rs11582704	0.80[ASN][1000 genomes]
rs11584128	0.82[EUR][1000 genomes]
rs11587069	0.82[EUR][1000 genomes]
rs11589007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589040	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs11589467	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs11589513	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12048010	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13374948	0.90[CEU][hapmap]
rs1342351	0.89[EUR][1000 genomes]
rs17621519	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1909647	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2107905	0.84[EUR][1000 genomes]
rs35564923	0.82[EUR][1000 genomes]
rs35826486	0.86[EUR][1000 genomes]
rs3768329	1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs3768330	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs3949294	0.81[CEU][hapmap]
rs4363416	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4546914	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4653894	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs4653895	0.94[EUR][1000 genomes]
rs56888086	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56910872	0.82[EUR][1000 genomes]
rs57146523	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57292064	0.82[EUR][1000 genomes]
rs57536604	0.82[EUR][1000 genomes]
rs57556486	0.89[EUR][1000 genomes]
rs57657087	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58398048	0.82[EUR][1000 genomes]
rs60213528	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61825130	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6665129	0.90[CEU][hapmap]
rs6672422	0.90[CEU][hapmap];0.98[EUR][1000 genomes]
rs6672559	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs6672601	0.98[EUR][1000 genomes]
rs72472998	0.80[EUR][1000 genomes]
rs72756204	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73110722	0.89[EUR][1000 genomes]
rs7530812	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs882451	0.82[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv947387	chr1:228140028-228206630	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv945349	chr1:228186556-228245135	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228186800-228187200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:228186800-228187200	Active TSS	Spleen	Spleen

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