Variant report

Variant	rs512206
Chromosome Location	chr15:53958146-53958147
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:53072427..53073417-chr15:53957937..53958702,5	MCF-7	breast:
2	chr15:53676762..53677326-chr15:53957733..53958557,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169856	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1621807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16966348	1.00[EUR][1000 genomes]
rs16966350	1.00[EUR][1000 genomes]
rs16966481	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1711020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17632415	1.00[CEU][hapmap]
rs17663120	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17730608	1.00[EUR][1000 genomes]
rs1841573	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2614209	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2614210	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2616924	1.00[CEU][hapmap]
rs2633249	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28404332	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2926883	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2926884	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3885638	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4344680	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4573882	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4573883	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4643264	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4776166	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs489630	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511109	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs514678	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs515611	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs516575	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526055	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs529011	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs532601	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs537025	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs554622	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55810993	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56268718	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56293061	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56382237	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56382844	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56951111	1.00[EUR][1000 genomes]
rs572930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576906	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58604383	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58979621	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58995229	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59063921	0.81[ASN][1000 genomes]
rs60122973	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61017540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493643	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs689608	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689621	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689638	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689673	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689729	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689763	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689785	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689811	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs690112	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690120	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs690138	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690139	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs690246	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs690327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs690349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690409	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs690448	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690459	1.00[EUR][1000 genomes]
rs690610	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694329	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73410165	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73410166	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73410172	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73410181	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74015848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74015851	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74015852	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74015853	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74015877	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74015879	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74015880	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74015881	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74015882	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74015885	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74015887	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74015889	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018706	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018708	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018710	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74018714	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018715	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018717	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018718	1.00[EUR][1000 genomes]
rs74018720	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018725	0.86[ASN][1000 genomes]
rs74018726	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018735	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018737	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018738	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018739	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018740	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018741	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74018742	1.00[EUR][1000 genomes]
rs74018743	1.00[EUR][1000 genomes]
rs74018744	1.00[EUR][1000 genomes]
rs8029966	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8031269	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989790	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904223	chr15:53665247-54340070	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv904224	chr15:53668018-54210677	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1052235	chr15:53677524-54618723	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv542388	chr15:53677524-54618723	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv9267	chr15:53821005-54132612	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv569435	chr15:53845097-53966805	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv934282	chr15:53872148-53989432	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv527474	chr15:53874591-53991833	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv904226	chr15:53883244-54458310	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv457144	chr15:53890362-54455757	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv569440	chr15:53890362-54455757	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv569441	chr15:53890362-54456754	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv457145	chr15:53890393-54456754	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv569442	chr15:53890393-54456754	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1043995	chr15:53907679-53968209	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv833010	chr15:53935652-54099849	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
17	nsv569443	chr15:53936907-53972798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53951400-53959200	Weak transcription	HepG2	liver
2	chr15:53951600-53973000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:53957800-53972800	Weak transcription	Liver	Liver
4	chr15:53958000-53958600	Enhancers	Cortex derived primary cultured neurospheres	brain

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