Variant report

Variant	rs561187379
Chromosome Location	chr12:30480606-30480607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517916	chr12:30454845-30485611	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1836795	chr12:30476188-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
5	nsv558006	chr12:30476188-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
6	nsv511500	chr12:30476188-30484684	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv522000	chr12:30476188-30485611	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	esv3485185	chr12:30477285-30482183	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
9	esv3490343	chr12:30477535-30482033	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv3490344	chr12:30477535-30482033	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
11	esv3485251	chr12:30477877-30481400	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
12	esv3485240	chr12:30478150-30481100	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
13	esv1004876	chr12:30478154-30481285	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
14	nsv512261	chr12:30478170-30481099	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
15	esv3485196	chr12:30478186-30481046	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
16	esv3485207	chr12:30478206-30481066	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
17	esv3485218	chr12:30478235-30481087	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
18	esv3485229	chr12:30478269-30480995	Weak transcription	n/a	n/a	inside rSNPs	diseases
19	esv3485262	chr12:30478269-30480995	Weak transcription	n/a	n/a	inside rSNPs	diseases
20	esv1398361	chr12:30478287-30480993	Weak transcription	n/a	n/a	inside rSNPs	diseases
21	esv17184	chr12:30478293-30480653	Weak transcription	n/a	n/a	inside rSNPs	diseases
22	nsv821385	chr12:30478293-30480653	Weak transcription	n/a	n/a	inside rSNPs	diseases
23	esv1833948	chr12:30478334-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
24	esv1834989	chr12:30478334-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
25	esv1835958	chr12:30478334-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
26	esv1837931	chr12:30478334-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
27	esv1839092	chr12:30478334-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
28	esv1841072	chr12:30478334-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
29	esv1841404	chr12:30478334-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
30	esv1841860	chr12:30478334-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
31	esv1841050	chr12:30478334-30484684	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
32	esv1834064	chr12:30478371-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
33	esv1834435	chr12:30478371-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
34	esv1834471	chr12:30478371-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
35	esv1836470	chr12:30478371-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
36	esv1838179	chr12:30478371-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
37	esv1839576	chr12:30478371-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
38	esv1842283	chr12:30478371-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
39	esv1842639	chr12:30478371-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
40	nsv558011	chr12:30478371-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
41	esv1833779	chr12:30478371-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
42	esv1834263	chr12:30478371-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
43	nsv558012	chr12:30478371-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
44	nsv558013	chr12:30478371-30491382	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
45	nsv558014	chr12:30478371-30492671	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
46	nsv558017	chr12:30478533-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
47	nsv558018	chr12:30478533-30485611	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
48	nsv558020	chr12:30478735-30480626	Weak transcription	n/a	n/a	inside rSNPs	diseases
49	nsv558021	chr12:30478735-30485611	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
50	nsv558022	chr12:30478904-30485611	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30480600-30482800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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