Variant report

Variant	rs486976
Chromosome Location	chr18:13143741-13143742
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	chr18:13140854..13145257-chr18:13540228..13543130,4	MCF-7	breast:
2	chr18:13142218..13144930-chr18:13215209..13217622,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168675	Chromatin interaction
ENSG00000267239	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10164063	1.00[EUR][1000 genomes]
rs11080631	1.00[EUR][1000 genomes]
rs1613375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1628961	1.00[EUR][1000 genomes]
rs1786993	1.00[EUR][1000 genomes]
rs1893324	1.00[EUR][1000 genomes]
rs1893325	1.00[EUR][1000 genomes]
rs1945136	1.00[EUR][1000 genomes]
rs2027693	1.00[EUR][1000 genomes]
rs2027694	1.00[EUR][1000 genomes]
rs2155864	1.00[EUR][1000 genomes]
rs28579212	1.00[EUR][1000 genomes]
rs4239310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs478502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4796970	1.00[EUR][1000 genomes]
rs4797734	1.00[AMR][1000 genomes]
rs4797755	1.00[AMR][1000 genomes]
rs482642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs483647	1.00[EUR][1000 genomes]
rs506877	1.00[EUR][1000 genomes]
rs533010	1.00[EUR][1000 genomes]
rs543201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs547479	1.00[EUR][1000 genomes]
rs569831	1.00[EUR][1000 genomes]
rs575250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57580816	1.00[EUR][1000 genomes]
rs58839955	1.00[EUR][1000 genomes]
rs7238800	1.00[EUR][1000 genomes]
rs73407750	1.00[EUR][1000 genomes]
rs73407763	1.00[EUR][1000 genomes]
rs73407884	1.00[EUR][1000 genomes]
rs73419545	1.00[EUR][1000 genomes]
rs8083404	1.00[EUR][1000 genomes]
rs9945456	1.00[EUR][1000 genomes]
rs9953795	1.00[EUR][1000 genomes]
rs9958518	1.00[EUR][1000 genomes]
rs9964950	1.00[EUR][1000 genomes]
rs9965936	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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 miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3437323	chr18:13141552-13145850	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv3362821	chr18:13142477-13145200	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2534756	chr18:13142662-13144576	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2143620	chr18:13142965-13144355	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv3316533	chr18:13143045-13144263	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv3420307	chr18:13143066-13144237	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv3512545	chr18:13143068-13144242	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv3512542	chr18:13143083-13144191	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv3316535	chr18:13143091-13144229	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	esv3316537	chr18:13143097-13144225	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv3316534	chr18:13143107-13144168	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv3512543	chr18:13143137-13144159	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	esv3316536	chr18:13143152-13144162	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	esv3512544	chr18:13143162-13144164	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv3316538	chr18:13143166-13144162	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	esv3512546	chr18:13143166-13144162	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	esv9930	chr18:13143387-13144152	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
26	nsv820778	chr18:13143387-13144152	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
27	nsv576525	chr18:13143415-13143947	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	nsv576526	chr18:13143415-13144089	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
29	esv2656342	chr18:13143415-13144101	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	esv2656412	chr18:13143415-13144101	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	esv1834772	chr18:13143415-13157966	Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
32	esv1837050	chr18:13143415-13157966	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	esv1842163	chr18:13143415-13157966	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
34	esv1803268	chr18:13143415-13175903	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
35	nsv576527	chr18:13143741-13144089	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13136400-13145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:13138000-13144200	Weak transcription	Pancreas	Pancrea
3	chr18:13138000-13144200	Weak transcription	Psoas Muscle	Psoas
4	chr18:13138800-13143800	Weak transcription	Spleen	Spleen
5	chr18:13138800-13144200	Weak transcription	Thymus	Thymus
6	chr18:13143200-13145200	ZNF genes & repeats	Adipose Nuclei	Adipose

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