Variant report

Variant	rs61252746
Chromosome Location	chr5:46232050-46232051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 250 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs10035118	0.83[EUR][1000 genomes]
rs10043557	0.86[EUR][1000 genomes]
rs10043613	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10051107	0.84[EUR][1000 genomes]
rs10051125	0.84[EUR][1000 genomes]
rs10051371	0.84[EUR][1000 genomes]
rs10052784	0.83[EUR][1000 genomes]
rs10052940	0.84[EUR][1000 genomes]
rs10053434	0.82[EUR][1000 genomes]
rs10053475	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10054000	0.82[EUR][1000 genomes]
rs10055950	0.83[EUR][1000 genomes]
rs10056653	0.82[EUR][1000 genomes]
rs10056731	0.83[EUR][1000 genomes]
rs10056884	0.83[EUR][1000 genomes]
rs10058281	0.82[EUR][1000 genomes]
rs10058430	0.82[EUR][1000 genomes]
rs10060832	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10061974	0.83[EUR][1000 genomes]
rs10063585	0.84[EUR][1000 genomes]
rs10064455	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10066477	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10066816	0.82[EUR][1000 genomes]
rs10068848	0.83[EUR][1000 genomes]
rs10068855	0.83[EUR][1000 genomes]
rs10072283	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10074483	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10075547	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10076982	0.81[EUR][1000 genomes]
rs10078317	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10078560	0.84[EUR][1000 genomes]
rs10213813	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10434612	0.84[EUR][1000 genomes]
rs10434613	0.84[EUR][1000 genomes]
rs10434615	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10461765	0.84[EUR][1000 genomes]
rs10805711	0.81[EUR][1000 genomes]
rs11953025	0.82[EUR][1000 genomes]
rs11953028	0.81[EUR][1000 genomes]
rs11958516	0.80[EUR][1000 genomes]
rs11959541	0.82[EUR][1000 genomes]
rs12109014	0.83[EUR][1000 genomes]
rs12110093	0.82[EUR][1000 genomes]
rs12654950	0.84[EUR][1000 genomes]
rs12697539	0.86[EUR][1000 genomes]
rs12697541	0.87[EUR][1000 genomes]
rs12697542	0.86[EUR][1000 genomes]
rs13154320	0.84[EUR][1000 genomes]
rs13155263	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13157222	0.82[EUR][1000 genomes]
rs13159863	0.85[EUR][1000 genomes]
rs13164666	0.83[EUR][1000 genomes]
rs13168463	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13171832	0.86[EUR][1000 genomes]
rs13172845	0.84[EUR][1000 genomes]
rs13178571	0.87[EUR][1000 genomes]
rs13178889	0.86[EUR][1000 genomes]
rs13180168	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13180635	0.95[ASN][1000 genomes]
rs13181575	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13184479	0.80[EUR][1000 genomes]
rs13189439	0.83[EUR][1000 genomes]
rs13189671	0.86[EUR][1000 genomes]
rs13436333	0.84[EUR][1000 genomes]
rs28820612	0.86[EUR][1000 genomes]
rs28868066	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28871274	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28892397	0.86[EUR][1000 genomes]
rs34259003	0.84[EUR][1000 genomes]
rs34347294	0.83[EUR][1000 genomes]
rs34492793	0.81[EUR][1000 genomes]
rs34532845	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34930360	0.83[ASN][1000 genomes]
rs35080434	0.84[EUR][1000 genomes]
rs35247978	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35550270	0.83[EUR][1000 genomes]
rs35553774	0.81[EUR][1000 genomes]
rs35874143	0.82[EUR][1000 genomes]
rs4128581	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4128582	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4128583	0.82[EUR][1000 genomes]
rs4975928	0.82[EUR][1000 genomes]
rs4975933	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4975934	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4975936	0.81[EUR][1000 genomes]
rs4975948	0.82[EUR][1000 genomes]
rs4975949	0.81[EUR][1000 genomes]
rs4975973	0.82[EUR][1000 genomes]
rs62370827	0.82[EUR][1000 genomes]
rs62370828	0.84[EUR][1000 genomes]
rs71584786	0.84[EUR][1000 genomes]
rs72762292	0.82[EUR][1000 genomes]
rs7293306	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7293323	0.84[EUR][1000 genomes]
rs7293362	0.83[EUR][1000 genomes]
rs7293374	0.82[EUR][1000 genomes]
rs7293390	0.81[EUR][1000 genomes]
rs7293400	0.82[EUR][1000 genomes]
rs7293427	0.82[EUR][1000 genomes]
rs7293428	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7293453	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7293461	0.83[EUR][1000 genomes]
rs7293466	0.84[EUR][1000 genomes]
rs7293469	0.84[EUR][1000 genomes]
rs7293470	0.83[EUR][1000 genomes]
rs7293503	0.80[EUR][1000 genomes]
rs7293504	0.82[EUR][1000 genomes]
rs7293505	0.82[EUR][1000 genomes]
rs7444177	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8175379	0.81[AMR][1000 genomes]
rs8175401	0.83[EUR][1000 genomes]
rs8175405	0.83[EUR][1000 genomes]
rs8175409	0.82[EUR][1000 genomes]
rs8175410	0.80[EUR][1000 genomes]
rs8175437	0.83[EUR][1000 genomes]
rs8185008	0.83[EUR][1000 genomes]
rs8185010	0.84[EUR][1000 genomes]
rs8185047	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8185049	0.82[EUR][1000 genomes]
rs8185059	0.82[EUR][1000 genomes]
rs8185071	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8185092	0.84[EUR][1000 genomes]
rs8185115	0.83[EUR][1000 genomes]
rs8185213	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8185214	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8185235	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8185240	0.86[EUR][1000 genomes]
rs8185242	0.87[EUR][1000 genomes]
rs8185249	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8185387	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8188019	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8188049	0.80[EUR][1000 genomes]
rs8188061	0.84[EUR][1000 genomes]
rs8188062	0.84[EUR][1000 genomes]
rs8188104	0.84[EUR][1000 genomes]
rs8188113	0.84[EUR][1000 genomes]
rs8188148	0.84[EUR][1000 genomes]
rs8188159	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8188169	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8188184	0.83[EUR][1000 genomes]
rs8188186	0.84[EUR][1000 genomes]
rs8188196	0.85[EUR][1000 genomes]
rs8188197	0.80[EUR][1000 genomes]
rs8188199	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8188219	0.84[EUR][1000 genomes]
rs8188224	0.84[EUR][1000 genomes]
rs8188250	0.86[EUR][1000 genomes]
rs8188279	0.83[EUR][1000 genomes]
rs8188295	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

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	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
4	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
5	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
6	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
7	nsv1033475	chr5:45771908-46250672	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1017290	chr5:45799447-46250672	ZNF genes & repeats Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv537756	chr5:45799447-46250672	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	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
11	nsv597999	chr5:45854627-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv462138	chr5:45857129-46287112	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv598000	chr5:45857129-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv598001	chr5:45858842-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1029040	chr5:45888504-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	nsv1020606	chr5:45904510-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	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
21	nsv1016946	chr5:45906782-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
22	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
23	nsv1028348	chr5:45916036-46246648	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv1030048	chr5:45916036-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv1030131	chr5:45916036-46271096	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
26	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
27	nsv598002	chr5:45916756-46275684	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv1015624	chr5:45921127-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	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
30	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
31	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
32	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
33	nsv1023719	chr5:45953688-46246648	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv1024938	chr5:45953688-46251306	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv1033036	chr5:45953688-46334867	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
36	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
37	nsv1034167	chr5:45962084-46334867	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv1034032	chr5:45973436-46251306	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
39	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
40	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
41	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
42	nsv462152	chr5:46048668-46265302	Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
43	nsv462153	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv462154	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv462155	chr5:46048668-46287112	ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv462156	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv462157	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv462158	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv598007	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
50	nsv1020738	chr5:46096508-46250672	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs61252746	LOC647121	Cis_chr	lymphoblastoid	RTeQTL
rs61252746	PARP8	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46214400-46232200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:46228600-46233000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr5:46228800-46233200	ZNF genes & repeats	Liver	Liver
4	chr5:46229000-46233200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr5:46229600-46232400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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