Variant report

Variant	rs7293306
Chromosome Location	chr5:46206284-46206285
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 235 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10035118	0.81[EUR][1000 genomes]
rs10043557	0.81[EUR][1000 genomes]
rs10043613	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10051107	0.82[EUR][1000 genomes]
rs10051125	0.82[EUR][1000 genomes]
rs10052784	0.81[EUR][1000 genomes]
rs10052940	0.82[EUR][1000 genomes]
rs10053240	0.83[EUR][1000 genomes]
rs10053434	0.88[EUR][1000 genomes]
rs10053475	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10054000	0.88[EUR][1000 genomes]
rs10054896	0.83[EUR][1000 genomes]
rs10055046	0.83[EUR][1000 genomes]
rs10055176	0.83[EUR][1000 genomes]
rs10055950	0.89[EUR][1000 genomes]
rs10056731	0.81[EUR][1000 genomes]
rs10056884	0.89[EUR][1000 genomes]
rs10058962	0.80[EUR][1000 genomes]
rs10060832	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10061974	0.83[EUR][1000 genomes]
rs10063187	0.83[EUR][1000 genomes]
rs10063585	0.82[EUR][1000 genomes]
rs10066477	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10066664	0.82[EUR][1000 genomes]
rs10066816	0.88[EUR][1000 genomes]
rs10068848	0.89[EUR][1000 genomes]
rs10068855	0.89[EUR][1000 genomes]
rs10072283	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10074483	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10075544	0.85[EUR][1000 genomes]
rs10075547	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10075550	0.85[EUR][1000 genomes]
rs10076606	0.83[EUR][1000 genomes]
rs10076982	0.80[EUR][1000 genomes]
rs10078317	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10078560	0.82[EUR][1000 genomes]
rs10078628	0.83[EUR][1000 genomes]
rs10213813	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10434612	0.81[EUR][1000 genomes]
rs10434613	0.82[EUR][1000 genomes]
rs11953025	0.81[EUR][1000 genomes]
rs11953028	0.80[EUR][1000 genomes]
rs11958516	0.86[EUR][1000 genomes]
rs11959541	0.81[EUR][1000 genomes]
rs12108841	0.82[EUR][1000 genomes]
rs12109014	0.81[EUR][1000 genomes]
rs12651760	0.81[EUR][1000 genomes]
rs12656025	0.81[EUR][1000 genomes]
rs12658237	0.81[EUR][1000 genomes]
rs12697539	0.81[EUR][1000 genomes]
rs12697541	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12697542	0.81[EUR][1000 genomes]
rs13154320	0.82[EUR][1000 genomes]
rs13155263	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13159863	0.83[EUR][1000 genomes]
rs13160523	0.82[EUR][1000 genomes]
rs13164666	0.81[EUR][1000 genomes]
rs13168463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13171832	0.81[EUR][1000 genomes]
rs13178571	0.82[EUR][1000 genomes]
rs13178648	0.82[EUR][1000 genomes]
rs13178889	0.81[EUR][1000 genomes]
rs13180168	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13180635	0.96[ASN][1000 genomes]
rs13181575	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186251	0.83[EUR][1000 genomes]
rs13189671	0.81[EUR][1000 genomes]
rs28798176	0.82[EUR][1000 genomes]
rs28820612	0.81[EUR][1000 genomes]
rs28868066	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28871274	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28892397	0.81[EUR][1000 genomes]
rs34009314	0.82[EUR][1000 genomes]
rs34347294	0.89[EUR][1000 genomes]
rs34492793	0.83[EUR][1000 genomes]
rs34532845	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34930360	0.84[ASN][1000 genomes]
rs35142578	0.81[EUR][1000 genomes]
rs35247978	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35550270	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35553774	0.87[EUR][1000 genomes]
rs35874143	0.88[EUR][1000 genomes]
rs4128581	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4128582	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4975933	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4975934	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58111642	0.82[EUR][1000 genomes]
rs61252746	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62370827	0.80[EUR][1000 genomes]
rs62370828	0.82[EUR][1000 genomes]
rs62372151	0.82[EUR][1000 genomes]
rs62372152	0.82[EUR][1000 genomes]
rs71584786	0.82[EUR][1000 genomes]
rs7293335	0.82[EUR][1000 genomes]
rs7293353	0.82[EUR][1000 genomes]
rs7293355	0.83[EUR][1000 genomes]
rs7293362	0.81[EUR][1000 genomes]
rs7293420	0.81[EUR][1000 genomes]
rs7293423	0.82[EUR][1000 genomes]
rs7293428	0.85[EUR][1000 genomes]
rs7293453	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7293461	0.83[EUR][1000 genomes]
rs7444177	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8175401	0.83[EUR][1000 genomes]
rs8175408	0.83[EUR][1000 genomes]
rs8175409	0.82[EUR][1000 genomes]
rs8175440	0.83[EUR][1000 genomes]
rs8185047	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8185071	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8185092	0.82[EUR][1000 genomes]
rs8185115	0.83[EUR][1000 genomes]
rs8185213	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8185214	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8185235	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8185240	0.81[EUR][1000 genomes]
rs8185242	0.82[EUR][1000 genomes]
rs8185362	0.83[EUR][1000 genomes]
rs8185363	0.83[EUR][1000 genomes]
rs8185384	0.83[EUR][1000 genomes]
rs8185387	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8188012	0.81[EUR][1000 genomes]
rs8188019	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8188049	0.86[EUR][1000 genomes]
rs8188061	0.82[EUR][1000 genomes]
rs8188062	0.82[EUR][1000 genomes]
rs8188104	0.82[EUR][1000 genomes]
rs8188133	0.83[EUR][1000 genomes]
rs8188169	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8188186	0.82[EUR][1000 genomes]
rs8188196	0.81[EUR][1000 genomes]
rs8188197	0.86[EUR][1000 genomes]
rs8188199	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8188219	0.82[EUR][1000 genomes]
rs8188224	0.82[EUR][1000 genomes]
rs8188233	0.83[EUR][1000 genomes]
rs8188235	0.82[EUR][1000 genomes]
rs8188250	0.81[EUR][1000 genomes]
rs8188279	0.83[EUR][1000 genomes]
rs8188295	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv1033475	chr5:45771908-46250672	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1017290	chr5:45799447-46250672	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv537756	chr5:45799447-46250672	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	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
14	nsv597999	chr5:45854627-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv462138	chr5:45857129-46287112	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv598000	chr5:45857129-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv598001	chr5:45858842-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv1034928	chr5:45860010-46224012	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv1029040	chr5:45888504-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	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
21	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
22	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
23	nsv1020606	chr5:45904510-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	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
25	nsv1016946	chr5:45906782-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	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
27	nsv1028856	chr5:45916036-46224012	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv1028348	chr5:45916036-46246648	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv1030048	chr5:45916036-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv1030131	chr5:45916036-46271096	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	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
32	nsv598002	chr5:45916756-46275684	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv1015624	chr5:45921127-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
34	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
35	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
36	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
37	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
38	nsv1023719	chr5:45953688-46246648	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv1024938	chr5:45953688-46251306	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv1033036	chr5:45953688-46334867	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
41	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
42	nsv1034167	chr5:45962084-46334867	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
43	nsv1034032	chr5:45973436-46251306	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
44	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
45	nsv1018279	chr5:46000763-46210634	Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
46	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
47	nsv1017853	chr5:46035145-46210634	ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
48	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
49	nsv462152	chr5:46048668-46265302	Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
50	nsv462153	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7293306	LOC647121	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46205600-46206600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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