Variant report

Variant	rs4444988
Chromosome Location	chr5:46017800-46017801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10040336	1.00[AMR][1000 genomes]
rs10064841	1.00[AMR][1000 genomes]
rs10066458	1.00[AMR][1000 genomes]
rs10941739	1.00[AMR][1000 genomes]
rs4256353	1.00[AMR][1000 genomes]
rs4262115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4264953	1.00[AMR][1000 genomes]
rs4277923	1.00[AMR][1000 genomes]
rs4280877	1.00[AMR][1000 genomes]
rs4293928	1.00[AMR][1000 genomes]
rs4296813	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4298261	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4312890	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4333328	1.00[AMR][1000 genomes]
rs4376277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4386741	1.00[AMR][1000 genomes]
rs4441885	1.00[AMR][1000 genomes]
rs4451057	1.00[AMR][1000 genomes]
rs4455567	1.00[AMR][1000 genomes]
rs4461646	1.00[AMR][1000 genomes]
rs4473776	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4484446	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4510598	1.00[AMR][1000 genomes]
rs4535461	1.00[AMR][1000 genomes]
rs4535462	1.00[AMR][1000 genomes]
rs4538615	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4574556	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4576157	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4602635	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4604201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4613722	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4616907	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4623154	1.00[AMR][1000 genomes]
rs4627997	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56835587	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57072672	1.00[AMR][1000 genomes]
rs57482529	0.94[AFR][1000 genomes]
rs59856438	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7293311	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7293329	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7293403	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7293409	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7293431	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093566	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093585	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093587	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095364	1.00[AMR][1000 genomes]
rs73095379	1.00[AMR][1000 genomes]
rs73095402	1.00[AMR][1000 genomes]
rs73100298	1.00[AMR][1000 genomes]
rs73103763	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105685	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107319	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107324	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107334	0.80[AFR][1000 genomes]
rs73107337	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107340	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7714693	1.00[AMR][1000 genomes]
rs8188022	1.00[AMR][1000 genomes]
rs8188038	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8188090	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916152	chr5:45273586-46115086	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv462133	chr5:45325915-46287112	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv597980	chr5:45325915-46287112	Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv462136	chr5:45406321-46228333	Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv597984	chr5:45406321-46228333	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv533064	chr5:45414583-46115086	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1034156	chr5:45482635-46224012	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1027861	chr5:45499842-46251306	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv530229	chr5:45506336-46115086	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv597993	chr5:45537299-46265302	Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv597996	chr5:45669038-46287112	Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1027084	chr5:45675353-46389261	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1033475	chr5:45771908-46250672	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1017290	chr5:45799447-46250672	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv537756	chr5:45799447-46250672	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv916058	chr5:45812550-46115173	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1031477	chr5:45812775-46160642	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv1024533	chr5:45840303-46389261	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv597999	chr5:45854627-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv916433	chr5:45855174-46115173	ZNF genes & repeats Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv462138	chr5:45857129-46287112	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv598000	chr5:45857129-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	nsv598001	chr5:45858842-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	nsv1015811	chr5:45860010-46097753	ZNF genes & repeats Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv1034928	chr5:45860010-46224012	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv916035	chr5:45865994-46115173	ZNF genes & repeats Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv1029040	chr5:45888504-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv526696	chr5:45892788-46348483	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv1030187	chr5:45898541-46199423	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv1035033	chr5:45898541-46389261	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv1020758	chr5:45899779-46389261	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv525143	chr5:45902608-46075957	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
33	nsv1030508	chr5:45904510-46172365	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv1020606	chr5:45904510-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv980561	chr5:45905216-46113101	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv1024568	chr5:45905997-46389261	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv1017177	chr5:45906782-46191872	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv1016946	chr5:45906782-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv1028073	chr5:45906782-46389261	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv518712	chr5:45912967-46048668	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
41	nsv522234	chr5:45912967-46048668	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
42	nsv1028856	chr5:45916036-46224012	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
43	nsv1028348	chr5:45916036-46246648	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv1030048	chr5:45916036-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv1030131	chr5:45916036-46271096	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv1023025	chr5:45916036-46389261	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv598002	chr5:45916756-46275684	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv1034884	chr5:45921127-46152428	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv1015624	chr5:45921127-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
50	nsv1034474	chr5:45921127-46389261	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46014000-46019000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr5:46016600-46020200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr5:46017400-46018800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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