Variant report

Variant	rs547953929
Chromosome Location	chr2:189120888-189120889
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189119512..189121195-chr2:189121212..189123988,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv511165	chr2:189112811-189122229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3457161	chr2:189117807-189122905	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3522728	chr2:189118457-189122255	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3457165	chr2:189118732-189122080	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3522731	chr2:189118957-189122155	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3457164	chr2:189119183-189121490	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3460678	chr2:189119206-189120992	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3460679	chr2:189119223-189120987	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv511829	chr2:189119345-189121787	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv6145	chr2:189119409-189121146	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3457162	chr2:189119495-189121073	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3346941	chr2:189119511-189121104	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3522726	chr2:189119523-189121076	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3522725	chr2:189119533-189121021	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3457160	chr2:189119539-189121055	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv820445	chr2:189119549-189121065	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv821856	chr2:189119549-189121065	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3457166	chr2:189119555-189121010	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3457167	chr2:189119555-189121010	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv3522727	chr2:189119563-189121033	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv15502	chr2:189119633-189120978	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv3522732	chr2:189119640-189120983	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv1804552	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv1805615	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv1805632	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv1809148	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv1809609	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1809920	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1810083	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv1810497	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv1811156	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv1812931	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
35	esv1813700	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
36	esv1814363	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
37	esv1816780	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
38	esv1818739	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
39	esv1818948	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv1819457	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv1819742	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
42	esv1820910	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv1820930	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
44	esv1821280	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
45	esv1821752	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
46	esv1824037	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
47	esv1824387	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
48	esv1825039	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
49	esv1825553	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
50	esv1827170	chr2:189119837-189120933	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189100400-189121200	Weak transcription	K562	blood
2	chr2:189119800-189122600	Weak transcription	Fetal Heart	heart

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