Variant report

Variant	rs112651399
Chromosome Location	chr5:60003084-60003085
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	chr5:59997848..60001535-chr5:60002216..60006200,5	K562	blood:
2	chr5:59996423..59998684-chr5:60001090..60003995,3	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv4850	chr5:59976186-60039810	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv508362	chr5:59990308-60050894	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv1816307	chr5:59992305-60012235	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv1794154	chr5:59995393-60012235	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv1821070	chr5:59995393-60012235	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv1801919	chr5:59995393-60013913	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	esv3468468	chr5:59999795-60005493	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3399648	chr5:60000595-60004743	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3468470	chr5:60000720-60004968	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3443840	chr5:60000970-60004693	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv513242	chr5:60001088-60003691	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv2441489	chr5:60001180-60004589	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3468473	chr5:60001223-60004020	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3468466	chr5:60001495-60004193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1924343	chr5:60001528-60003856	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv821130	chr5:60001557-60003847	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv823083	chr5:60001557-60003847	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv823084	chr5:60001579-60003195	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv823085	chr5:60001579-60003263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv1009755	chr5:60001579-60003470	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv823086	chr5:60001579-60003470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv3468472	chr5:60001583-60003772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv3501854	chr5:60001601-60003780	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	esv3501859	chr5:60001604-60003747	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv3501856	chr5:60001623-60003702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	esv3468475	chr5:60001631-60003738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv3468471	chr5:60001636-60003736	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
33	esv3468469	chr5:60001643-60003693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
34	esv3501857	chr5:60001646-60003715	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	esv3501855	chr5:60001647-60003716	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
36	esv20653	chr5:60001651-60003708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
37	esv3396996	chr5:60001667-60003686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
38	esv3468467	chr5:60001688-60003675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
39	esv3501858	chr5:60001704-60003666	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
40	nsv499714	chr5:60001704-60003671	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	esv3468476	chr5:60001705-60003671	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	esv3501860	chr5:60001705-60003671	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
43	nsv514307	chr5:60001779-60003307	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	esv1008237	chr5:60001816-60003669	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	nsv598300	chr5:60001832-60003099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
46	esv1792140	chr5:60001832-60003352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
47	esv1796072	chr5:60001832-60003352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
48	esv1799827	chr5:60001832-60003352	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
49	esv1804125	chr5:60001832-60003352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
50	esv1815175	chr5:60001832-60003352	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60002600-60003400	Enhancers	Placenta	Placenta

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