Variant report

Variant	rs4931691
Chromosome Location	chr12:33304247-33304248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10772042	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10772043	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10844467	0.83[AMR][1000 genomes]
rs10844470	0.87[AMR][1000 genomes]
rs10844482	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052466	0.87[AMR][1000 genomes]
rs11052504	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1125592	0.87[AMR][1000 genomes]
rs12426897	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12426910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2166256	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4931698	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4931699	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7305199	0.87[AMR][1000 genomes]
rs74075509	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1044931	chr12:33179957-33307362	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1815763	chr12:33271892-33306863	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv668	chr12:33281675-33314883	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1048692	chr12:33288946-33307362	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1053524	chr12:33288946-33323351	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv558190	chr12:33289821-33304596	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1823776	chr12:33289821-33305855	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv558191	chr12:33289821-33306312	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv558192	chr12:33289821-33308928	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv558193	chr12:33289821-33309797	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1054281	chr12:33290645-33307066	ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1036012	chr12:33290645-33309059	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2654108	chr12:33293708-33309148	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
15	nsv8943	chr12:33293884-33307568	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
16	nsv1049340	chr12:33293907-33304571	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
17	esv1819286	chr12:33293907-33306312	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
18	esv1822055	chr12:33293907-33306312	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
19	nsv1045469	chr12:33293907-33307362	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
20	nsv511494	chr12:33293907-33308022	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
21	esv2760238	chr12:33293907-33315658	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
22	esv1818935	chr12:33294037-33304596	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
23	nsv558194	chr12:33294037-33304596	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
24	nsv558195	chr12:33294037-33305647	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
25	esv1823941	chr12:33294037-33305855	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
26	esv1815730	chr12:33294037-33306312	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
27	esv1816510	chr12:33294037-33306312	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
28	nsv558196	chr12:33294037-33306312	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
29	nsv437740	chr12:33294037-33312197	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
30	nsv1045344	chr12:33294486-33306953	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
31	nsv1052212	chr12:33294486-33307362	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
32	nsv1037198	chr12:33294499-33307362	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
33	nsv1037137	chr12:33294533-33304571	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
34	nsv1051333	chr12:33294533-33307362	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
35	nsv1036284	chr12:33294533-33308851	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
36	esv3495907	chr12:33296467-33307451	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
37	esv3431370	chr12:33296516-33307387	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
38	nsv498786	chr12:33296553-33307373	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
39	esv3495918	chr12:33296554-33307373	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
40	esv3500508	chr12:33299085-33304383	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
41	esv16755	chr12:33299311-33307468	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
42	esv1820916	chr12:33299791-33307362	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
43	esv2422106	chr12:33299791-33307374	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
44	nsv826314	chr12:33300890-33307336	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
45	esv1818714	chr12:33300976-33307063	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
46	esv1823043	chr12:33300976-33307063	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
47	nsv826315	chr12:33301117-33307336	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
48	nsv558197	chr12:33301157-33304247	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
49	nsv558198	chr12:33301157-33304506	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
50	esv1815949	chr12:33301157-33304596	Weak transcription ZNF genes & repeats	n/a	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	chr12:33304200-33304600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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