Variant report

Variant	rs12247754
Chromosome Location	chr10:56450578-56450579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10825372	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10825375	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1336196	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1360932	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050405	chr10:56224676-56800009	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv540635	chr10:56224676-56800009	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv933410	chr10:56319433-56713977	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1043144	chr10:56332903-56680265	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1045621	chr10:56353504-56468425	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
6	nsv550970	chr10:56361499-56764751	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
7	esv2758221	chr10:56408027-56566137	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2759754	chr10:56408027-56566137	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv895447	chr10:56428277-56587755	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2757387	chr10:56436508-56473754	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1809742	chr10:56441343-56474113	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv550973	chr10:56441751-56469288	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
13	esv1845689	chr10:56441815-56468750	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
14	esv1849525	chr10:56442061-56468761	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
15	esv1829325	chr10:56442061-56514009	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv1823611	chr10:56442820-56468761	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
17	esv1851176	chr10:56445570-56469295	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
18	esv1818753	chr10:56445570-56472693	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv550974	chr10:56445616-56469288	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
20	esv1813140	chr10:56445730-56468761	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
21	esv1843968	chr10:56445730-56468761	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
22	esv1801578	chr10:56445730-56469911	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
23	esv1792554	chr10:56445730-56470990	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv1815358	chr10:56445730-56470990	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv1826784	chr10:56445730-56470990	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv8668	chr10:56445758-56469613	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
27	nsv825394	chr10:56445892-56469557	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
28	nsv825395	chr10:56445892-56469590	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
29	nsv820422	chr10:56445892-56469623	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
30	nsv820195	chr10:56445921-56469970	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
31	esv15136	chr10:56446076-56469571	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
32	esv1834056	chr10:56446495-56469288	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
33	esv1834745	chr10:56446495-56469288	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
34	esv1836713	chr10:56446495-56469288	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
35	esv1837701	chr10:56446495-56469288	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
36	esv1838593	chr10:56446495-56469288	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
37	esv1839202	chr10:56446495-56469288	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
38	esv1839812	chr10:56446495-56469288	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
39	esv1840229	chr10:56446495-56469288	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
40	esv3453108	chr10:56446798-56468198	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
41	esv3453119	chr10:56446798-56468198	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
42	esv1799177	chr10:56446810-56469295	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
43	esv1803941	chr10:56446810-56469295	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
44	esv1818598	chr10:56446810-56469295	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
45	esv1829145	chr10:56446810-56469295	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
46	esv1830300	chr10:56446810-56469295	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
47	esv1811548	chr10:56446810-56472693	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
48	esv1850921	chr10:56447391-56470758	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
49	esv1799852	chr10:56447929-56468961	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
50	esv1801366	chr10:56447929-56468961	Enhancers Weak transcription	n/a	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	chr10:56449000-56451000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr10:56450200-56452800	Enhancers	Fetal Lung	lung

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