Variant report

Variant	rs10066140
Chromosome Location	chr5:46333000-46333001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10037109	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10054179	0.81[AMR][1000 genomes]
rs10058065	0.81[AMR][1000 genomes]
rs10059207	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10059495	0.81[ASN][1000 genomes]
rs10060964	0.81[AMR][1000 genomes]
rs10061916	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10063520	0.81[ASN][1000 genomes]
rs10068278	0.84[AMR][1000 genomes]
rs10076113	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10941789	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10941797	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10941803	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11745763	0.85[ASN][1000 genomes]
rs11750244	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11750263	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12513534	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12514163	0.83[ASN][1000 genomes]
rs12514178	0.81[ASN][1000 genomes]
rs12521795	0.85[ASN][1000 genomes]
rs12523279	0.81[ASN][1000 genomes]
rs12656991	0.84[AMR][1000 genomes]
rs12697557	0.81[ASN][1000 genomes]
rs13354339	0.83[AMR][1000 genomes]
rs34101830	0.81[AMR][1000 genomes]
rs34647604	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34693648	0.81[AMR][1000 genomes]
rs35503553	0.81[ASN][1000 genomes]
rs36019653	0.82[AMR][1000 genomes]
rs36191992	0.83[ASN][1000 genomes]
rs4975899	0.81[AMR][1000 genomes]
rs4975901	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4975902	0.91[AMR][1000 genomes]
rs4975912	0.84[ASN][1000 genomes]
rs4975913	0.85[ASN][1000 genomes]
rs4975914	0.80[ASN][1000 genomes]
rs4975919	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4975920	0.83[AMR][1000 genomes]
rs4975924	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4975925	0.82[ASN][1000 genomes]
rs4975926	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4975927	0.86[AMR][1000 genomes]
rs4975930	0.85[AMR][1000 genomes]
rs4975968	0.81[ASN][1000 genomes]
rs4975974	0.83[ASN][1000 genomes]
rs4975975	0.84[ASN][1000 genomes]
rs4975976	0.83[ASN][1000 genomes]
rs4975978	0.83[ASN][1000 genomes]
rs4975979	0.84[ASN][1000 genomes]
rs4975991	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55638678	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7293345	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7293371	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8175389	0.80[ASN][1000 genomes]
rs8175427	0.84[ASN][1000 genomes]
rs8185011	0.80[AMR][1000 genomes]
rs8185103	0.82[AMR][1000 genomes]
rs8185180	0.81[ASN][1000 genomes]
rs8185192	0.83[ASN][1000 genomes]
rs8185225	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8185253	0.81[ASN][1000 genomes]
rs8185312	0.81[ASN][1000 genomes]
rs8185316	0.83[AMR][1000 genomes]
rs8185361	0.81[ASN][1000 genomes]
rs8188221	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv1017281	chr5:45922311-46389261	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1025907	chr5:45931038-46389261	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1027296	chr5:45939287-46389261	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1033036	chr5:45953688-46334867	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1023770	chr5:45953688-46389261	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1034167	chr5:45962084-46334867	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv525576	chr5:45996902-46348483	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1025880	chr5:46000763-46389261	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1017988	chr5:46035145-46389261	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1034670	chr5:46101845-46389261	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1028712	chr5:46106823-46389261	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1019374	chr5:46115828-46389261	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv1018733	chr5:46136820-46389261	ZNF genes & repeats Weak transcription Active TSS Enhancers 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
23	nsv1020434	chr5:46151819-46334867	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv1028954	chr5:46151819-46389261	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv1015614	chr5:46152428-46334867	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv1029174	chr5:46152428-46389261	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv469783	chr5:46155847-46356409	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv482501	chr5:46155847-46356409	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv517480	chr5:46160787-46348483	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv1027538	chr5:46161510-46389261	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv1020350	chr5:46191236-46389261	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv1028629	chr5:46195871-46389261	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv1034590	chr5:46196102-46334867	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv598016	chr5:46199395-46399274	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv1016871	chr5:46199422-46389261	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv1020024	chr5:46209287-46334867	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv1027475	chr5:46209287-46365429	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv1028468	chr5:46209287-46382640	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv1032169	chr5:46209287-46389261	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv1017681	chr5:46209870-46389261	ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
41	nsv1026062	chr5:46209996-46334867	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
42	nsv1024832	chr5:46224012-46334867	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
43	nsv1020727	chr5:46224012-46365429	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv1034011	chr5:46224012-46389261	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv1024646	chr5:46246501-46334867	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv1029514	chr5:46246501-46389261	ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv1016164	chr5:46251306-46365429	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv1019933	chr5:46251306-46389261	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv1024503	chr5:46270996-46365429	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
50	nsv1032372	chr5:46270996-46389261	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46318600-46341600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:46323200-46341800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr5:46328000-46336200	Weak transcription	K562	blood
4	chr5:46329400-46333000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr5:46330200-46336200	Weak transcription	Aorta	Aorta

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