Variant report

Variant	rs2399748
Chromosome Location	chr11:93687675-93687676
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	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10741479	0.83[ASN][1000 genomes]
rs10831150	0.89[ASN][1000 genomes]
rs10831151	0.89[ASN][1000 genomes]
rs11020593	0.83[ASN][1000 genomes]
rs11020605	0.88[ASN][1000 genomes]
rs11020606	0.89[ASN][1000 genomes]
rs11020607	0.89[ASN][1000 genomes]
rs11020608	0.89[ASN][1000 genomes]
rs11020610	0.94[ASN][1000 genomes]
rs11020616	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1105113	0.97[ASN][1000 genomes]
rs1105114	0.95[ASN][1000 genomes]
rs11603095	0.89[ASN][1000 genomes]
rs12785240	0.86[ASN][1000 genomes]
rs12786407	0.89[ASN][1000 genomes]
rs12786631	0.89[ASN][1000 genomes]
rs12787903	0.89[ASN][1000 genomes]
rs12789693	0.94[ASN][1000 genomes]
rs12792941	0.92[EUR][1000 genomes]
rs12792942	0.89[ASN][1000 genomes]
rs12794588	0.88[ASN][1000 genomes]
rs12807496	0.97[ASN][1000 genomes]
rs1518571	0.81[EUR][1000 genomes]
rs1518577	0.82[EUR][1000 genomes]
rs2000960	0.84[EUR][1000 genomes]
rs2008041	0.92[EUR][1000 genomes]
rs2032400	0.82[EUR][1000 genomes]
rs2456559	0.81[EUR][1000 genomes]
rs2456562	0.83[EUR][1000 genomes]
rs2456563	0.84[EUR][1000 genomes]
rs2456568	0.80[EUR][1000 genomes]
rs2456569	0.81[EUR][1000 genomes]
rs2462744	0.84[EUR][1000 genomes]
rs2462750	0.81[EUR][1000 genomes]
rs2511373	0.82[EUR][1000 genomes]
rs2511375	0.81[EUR][1000 genomes]
rs2511376	0.80[EUR][1000 genomes]
rs2511398	0.91[EUR][1000 genomes]
rs2511399	0.84[EUR][1000 genomes]
rs2895491	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34082624	0.89[ASN][1000 genomes]
rs34451374	0.84[ASN][1000 genomes]
rs34537425	0.89[ASN][1000 genomes]
rs34699227	0.89[ASN][1000 genomes]
rs35579191	0.89[ASN][1000 genomes]
rs4753522	0.89[ASN][1000 genomes]
rs4753523	0.89[ASN][1000 genomes]
rs4753524	0.87[ASN][1000 genomes]
rs55756119	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60079517	0.89[ASN][1000 genomes]
rs7484198	0.92[ASN][1000 genomes]
rs7927632	0.94[ASN][1000 genomes]
rs7934440	0.97[ASN][1000 genomes]
rs7940973	0.87[EUR][1000 genomes]
rs7942055	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7942236	0.92[EUR][1000 genomes]
rs7944194	0.87[EUR][1000 genomes]
rs877340	0.84[EUR][1000 genomes]
rs877341	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs908746	0.93[ASN][1000 genomes]
rs908748	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs908749	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508650	chr11:93609010-93713576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	esv1796911	chr11:93642877-93688134	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1049467	chr11:93651025-93778717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv442	chr11:93665117-93717973	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1792094	chr11:93670388-93688541	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1800503	chr11:93670388-93688541	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1802331	chr11:93670388-93688541	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1802534	chr11:93670388-93688541	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1802586	chr11:93670388-93688541	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1802849	chr11:93670388-93688541	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1798558	chr11:93671838-93688514	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1796190	chr11:93676224-93688541	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1796455	chr11:93676224-93688541	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1799544	chr11:93676224-93688541	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1802919	chr11:93676224-93688541	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv2757466	chr11:93676224-93714950	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv2759854	chr11:93676224-93714950	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv555942	chr11:93682348-93688514	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3474808	chr11:93682904-93687802	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3474819	chr11:93682904-93687802	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3464597	chr11:93683190-93688673	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv3464575	chr11:93683245-93688641	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv21094	chr11:93683253-93688561	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv3464586	chr11:93683255-93688634	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv3464608	chr11:93683264-93688592	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv989117	chr11:93683297-93688586	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv3464620	chr11:93683329-93688565	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv1011018	chr11:93683377-93688561	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv1792605	chr11:93683440-93687965	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1799603	chr11:93683440-93687965	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1797485	chr11:93683453-93688541	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv1799456	chr11:93683453-93688541	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv1799981	chr11:93683453-93688541	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv1801198	chr11:93683453-93688541	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
35	esv1802692	chr11:93683453-93688541	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
36	esv1803959	chr11:93683635-93689075	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
37	esv1800894	chr11:93683635-93691161	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv555946	chr11:93683680-93687780	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv555947	chr11:93683680-93688134	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv1793438	chr11:93683680-93688514	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv1793545	chr11:93683680-93688514	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
42	esv1796721	chr11:93683680-93688514	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv1804035	chr11:93683680-93688514	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv555948	chr11:93683680-93688514	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv555949	chr11:93683680-93690148	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv555951	chr11:93683768-93687780	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv555952	chr11:93683768-93688134	Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
48	esv1792433	chr11:93683768-93688514	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
49	esv1795230	chr11:93683768-93688514	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
50	esv1795531	chr11:93683768-93688514	Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93687000-93687800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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