Variant report

Variant	rs530800108
Chromosome Location	chr12:30241139-30241140
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv557977	chr12:30224990-30241143	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
6	nsv557978	chr12:30228188-30241143	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
7	nsv557979	chr12:30228467-30241143	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
8	nsv557980	chr12:30229583-30243473	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv557981	chr12:30229606-30243473	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
10	nsv557982	chr12:30233450-30242303	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv557983	chr12:30233450-30243473	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
12	nsv557984	chr12:30233898-30242877	Weak transcription Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
13	nsv557985	chr12:30233898-30243473	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
14	esv2760246	chr12:30235279-30244326	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
15	esv2760866	chr12:30235279-30244780	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
16	esv3525816	chr12:30236535-30244533	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv973986	chr12:30237049-30243977	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
18	esv3485162	chr12:30237112-30243673	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
19	nsv8932	chr12:30237115-30243678	Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
20	esv3382930	chr12:30237138-30243655	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
21	esv3525817	chr12:30237159-30243608	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
22	esv3485140	chr12:30237163-30243636	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
23	esv3485151	chr12:30237168-30243639	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
24	esv3485129	chr12:30237179-30243592	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
25	esv18261	chr12:30237233-30243568	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
26	esv3485174	chr12:30237246-30243567	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
27	esv3525819	chr12:30237246-30243567	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
28	nsv826296	chr12:30237254-30243482	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
29	nsv557986	chr12:30237344-30241370	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
30	nsv557987	chr12:30237344-30241486	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
31	nsv557988	chr12:30237344-30241908	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
32	nsv557989	chr12:30237344-30242303	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
33	nsv557990	chr12:30237344-30242877	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
34	nsv557991	chr12:30237344-30243473	Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
35	nsv557992	chr12:30237344-30243631	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
36	nsv438200	chr12:30237351-30241143	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
37	esv3584651	chr12:30237497-30243933	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
38	nsv442641	chr12:30237501-30243933	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
39	nsv826297	chr12:30237546-30243482	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
40	nsv514662	chr12:30237649-30243373	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
41	esv3500474	chr12:30237685-30244383	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
42	esv3500485	chr12:30237685-30244383	Weak transcription Enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
43	nsv557993	chr12:30237821-30241908	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
44	nsv557994	chr12:30237821-30242877	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
45	nsv557995	chr12:30237821-30243473	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
46	esv2829966	chr12:30237954-30241143	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
47	esv2830227	chr12:30237954-30241143	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
48	esv3693117	chr12:30237954-30241143	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
49	nsv557996	chr12:30238055-30243473	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
50	nsv557997	chr12:30238371-30243473	Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30237800-30241400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:30239400-30242200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:30240600-30241400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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