Variant report

Variant	rs531116611
Chromosome Location	chr12:40818282-40818283
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:40818255-40818307	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MUC19	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv558600	chr12:40802840-40820632	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv558601	chr12:40802840-40824917	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv558602	chr12:40802840-40825487	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv2755842	chr12:40803788-40821478	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv2755523	chr12:40804386-40821478	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv558603	chr12:40809387-40825487	ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv470287	chr12:40809387-40825845	Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv437744	chr12:40812764-40821176	ZNF genes & repeats Weak transcription	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1050076	chr12:40813295-40831595	Enhancers ZNF genes & repeats	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv437745	chr12:40814452-40821176	Inactive region	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv1047391	chr12:40817585-40831595	Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1039272	chr12:40817585-40841318	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv442646	chr12:40817597-40821477	Inactive region	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
18	esv2421846	chr12:40817597-40821478	Inactive region	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv2762975	chr12:40817597-40821478	Inactive region	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv14426	chr12:40817762-40821672	Inactive region	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
21	esv2754795	chr12:40817807-40821478	Inactive region	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv514670	chr12:40817925-40821453	Inactive region	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
23	esv34373	chr12:40817995-40821478	Inactive region	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
24	esv34482	chr12:40817995-40821478	Inactive region	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
25	nsv818914	chr12:40818260-40820632	Inactive region	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv438206	chr12:40818260-40820681	Inactive region	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
27	nsv515583	chr12:40818260-40824917	Inactive region	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv558604	chr12:40818260-40831569	Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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