Variant report

Variant	rs183363525
Chromosome Location	chr2:54565549-54565550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1004632	chr2:54469283-54590480	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1815958	chr2:54559793-54567092	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv582013	chr2:54559793-54567329	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv582014	chr2:54559793-54567441	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv1823588	chr2:54562012-54567092	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1825251	chr2:54562012-54567092	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1826095	chr2:54562012-54567092	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1830130	chr2:54562012-54567092	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1849337	chr2:54562069-54567347	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv1837933	chr2:54562069-54567441	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv511174	chr2:54562069-54567590	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv436294	chr2:54562596-54568259	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3456943	chr2:54563548-54569446	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3520992	chr2:54564298-54568596	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3456937	chr2:54564473-54568821	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv3520998	chr2:54564581-54568299	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv3520996	chr2:54564648-54568496	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv2604967	chr2:54564876-54567562	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
26	esv2535207	chr2:54564919-54568141	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
27	esv3456940	chr2:54564921-54567772	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
28	nsv511786	chr2:54565174-54567614	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
29	esv5705	chr2:54565265-54567729	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
30	esv2276399	chr2:54565320-54567653	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
31	nsv820112	chr2:54565344-54567586	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
32	esv3520993	chr2:54565370-54567587	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
33	esv3520991	chr2:54565371-54567557	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
34	esv3520995	chr2:54565386-54567513	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
35	esv3456942	chr2:54565390-54567579	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
36	esv3456936	chr2:54565403-54567544	Weak transcription	n/a	n/a	inside rSNPs	diseases
37	esv3456938	chr2:54565415-54567493	Weak transcription	n/a	n/a	inside rSNPs	diseases
38	esv3456939	chr2:54565415-54567545	Weak transcription	n/a	n/a	inside rSNPs	diseases
39	esv3520994	chr2:54565420-54567526	Weak transcription	n/a	n/a	inside rSNPs	diseases
40	esv5301	chr2:54565445-54567521	Weak transcription	n/a	n/a	inside rSNPs	diseases
41	nsv829424	chr2:54565446-54567159	Weak transcription	n/a	n/a	inside rSNPs	diseases
42	nsv829427	chr2:54565446-54567422	Weak transcription	n/a	n/a	inside rSNPs	diseases
43	nsv821415	chr2:54565446-54567472	Weak transcription	n/a	n/a	inside rSNPs	diseases
44	nsv829428	chr2:54565446-54567472	Weak transcription	n/a	n/a	inside rSNPs	diseases
45	esv1008998	chr2:54565493-54568024	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
46	esv3456944	chr2:54565494-54567474	Weak transcription	n/a	n/a	inside rSNPs	diseases
47	esv3520999	chr2:54565494-54567474	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54558800-54574800	Weak transcription	Left Ventricle	heart
2	chr2:54559000-54568400	Weak transcription	Right Ventricle	heart
3	chr2:54563200-54568600	Weak transcription	Right Atrium	heart
4	chr2:54564200-54568600	Weak transcription	Fetal Brain Female	brain
5	chr2:54564200-54568800	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:54564400-54568800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:54564400-54571200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:54564600-54568800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:54564600-54569000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:54564800-54569000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:54565000-54569400	Weak transcription	NHDF-Ad	bronchial
12	chr2:54565200-54570000	Weak transcription	Osteobl	bone
13	chr2:54565400-54567400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:54565400-54567600	Weak transcription	NHLF	lung
15	chr2:54565400-54568400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:54565400-54568600	Weak transcription	Fetal Heart	heart

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