Variant report

Variant	rs66661116
Chromosome Location	chr12:74645590-74645591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:74644729..74646901-chr12:74673133..74675574,2	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1019690	0.91[ASN][1000 genomes]
rs1019692	0.91[ASN][1000 genomes]
rs1019693	0.91[ASN][1000 genomes]
rs1019694	0.91[ASN][1000 genomes]
rs10879749	0.91[ASN][1000 genomes]
rs10879759	0.82[ASN][1000 genomes]
rs11179983	0.81[ASN][1000 genomes]
rs11180015	0.91[ASN][1000 genomes]
rs11180027	0.89[ASN][1000 genomes]
rs11180036	0.89[ASN][1000 genomes]
rs11180049	0.82[ASN][1000 genomes]
rs11829422	0.82[ASN][1000 genomes]
rs11833331	0.81[ASN][1000 genomes]
rs11834990	0.82[AFR][1000 genomes]
rs11836857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422910	0.89[ASN][1000 genomes]
rs12426578	0.81[ASN][1000 genomes]
rs1346248	0.91[ASN][1000 genomes]
rs1365533	0.91[ASN][1000 genomes]
rs1365534	0.91[ASN][1000 genomes]
rs17113224	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113335	0.91[ASN][1000 genomes]
rs1820497	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1834669	0.94[ASN][1000 genomes]
rs2012003	0.91[ASN][1000 genomes]
rs2012005	0.91[ASN][1000 genomes]
rs2162395	0.91[ASN][1000 genomes]
rs2278189	0.94[ASN][1000 genomes]
rs4883488	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4883489	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66472931	0.91[ASN][1000 genomes]
rs66504708	0.95[ASN][1000 genomes]
rs66512760	0.91[ASN][1000 genomes]
rs66514235	0.94[ASN][1000 genomes]
rs66756307	0.91[ASN][1000 genomes]
rs66955885	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67027369	0.91[ASN][1000 genomes]
rs67121434	0.81[ASN][1000 genomes]
rs67249120	0.91[ASN][1000 genomes]
rs67283194	1.00[ASN][1000 genomes]
rs67452475	0.82[ASN][1000 genomes]
rs67619450	0.91[ASN][1000 genomes]
rs67630387	0.95[ASN][1000 genomes]
rs67697209	0.86[AFR][1000 genomes]
rs67773463	0.91[ASN][1000 genomes]
rs67893703	0.81[ASN][1000 genomes]
rs68026423	0.91[ASN][1000 genomes]
rs68173977	0.91[ASN][1000 genomes]
rs72652862	0.81[ASN][1000 genomes]
rs72652863	0.81[ASN][1000 genomes]
rs72652864	0.91[ASN][1000 genomes]
rs72652865	0.91[ASN][1000 genomes]
rs7295476	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7297995	0.81[ASN][1000 genomes]
rs7299438	0.82[ASN][1000 genomes]
rs7305709	0.89[ASN][1000 genomes]
rs7307822	0.81[ASN][1000 genomes]
rs7398187	0.89[ASN][1000 genomes]
rs870104	0.81[ASN][1000 genomes]
rs939828	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037030	chr12:73898311-74656764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv541537	chr12:73898311-74656764	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899285	chr12:74456882-74651797	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv899288	chr12:74509618-74651797	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1821495	chr12:74517828-74647299	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv559395	chr12:74576059-74676381	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv559396	chr12:74586210-74679054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv520257	chr12:74590356-74680999	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1048747	chr12:74597411-74674733	Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1053421	chr12:74599663-74674733	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1047574	chr12:74599663-74687663	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv1816351	chr12:74616769-74647299	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	esv1804639	chr12:74636043-74647180	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	esv1822914	chr12:74636043-74647299	Strong transcription Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv559397	chr12:74638365-74646054	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	esv3338125	chr12:74642585-74646883	Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	esv3521121	chr12:74643385-74649183	Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	nsv983488	chr12:74644216-74647082	Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	esv3376830	chr12:74644410-74648058	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3497330	chr12:74644434-74648177	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv826435	chr12:74644471-74647453	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv3354952	chr12:74644485-74649483	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv3497341	chr12:74644489-74648154	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv3521122	chr12:74644492-74648145	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3521123	chr12:74644492-74648145	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv3497319	chr12:74644564-74648060	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv826436	chr12:74644572-74647453	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv3497352	chr12:74644578-74648056	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv15784	chr12:74644626-74647793	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv559398	chr12:74644734-74646427	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv559399	chr12:74644734-74646803	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv559400	chr12:74644734-74647180	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv1805091	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
35	esv1807646	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
36	esv1808662	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
37	esv1809856	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
38	esv1810128	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
39	esv1810214	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv1811528	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv1812066	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
42	esv1815490	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv1815904	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
44	esv1816633	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
45	esv1817144	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
46	esv1817849	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
47	esv1821160	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
48	esv1822986	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
49	esv1823325	chr12:74644734-74647299	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
50	nsv559401	chr12:74644734-74647299	Weak transcription	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	chr12:74636600-74678000	Weak transcription	K562	blood

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