Variant report

Variant	rs8188199
Chromosome Location	chr5:46263875-46263876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 217 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10035118	0.81[EUR][1000 genomes]
rs10043557	0.83[EUR][1000 genomes]
rs10043613	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10051107	0.82[EUR][1000 genomes]
rs10051125	0.82[EUR][1000 genomes]
rs10051371	0.83[EUR][1000 genomes]
rs10052784	0.81[EUR][1000 genomes]
rs10052940	0.82[EUR][1000 genomes]
rs10053475	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10056653	0.84[EUR][1000 genomes]
rs10056731	0.81[EUR][1000 genomes]
rs10056884	0.81[EUR][1000 genomes]
rs10058281	0.86[EUR][1000 genomes]
rs10058430	0.84[EUR][1000 genomes]
rs10060832	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10061974	0.81[EUR][1000 genomes]
rs10063585	0.82[EUR][1000 genomes]
rs10064455	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10066477	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10068848	0.81[EUR][1000 genomes]
rs10072283	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10073477	0.81[AMR][1000 genomes]
rs10074483	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10075547	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10078317	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10078560	0.82[EUR][1000 genomes]
rs10213813	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10434612	0.81[EUR][1000 genomes]
rs10434613	0.82[EUR][1000 genomes]
rs10434615	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10461765	0.84[EUR][1000 genomes]
rs10805711	0.85[EUR][1000 genomes]
rs10941761	0.82[EUR][1000 genomes]
rs12109014	0.81[EUR][1000 genomes]
rs12110093	0.84[EUR][1000 genomes]
rs12654950	0.84[EUR][1000 genomes]
rs12656982	0.81[AMR][1000 genomes]
rs12697539	0.83[EUR][1000 genomes]
rs12697541	0.84[EUR][1000 genomes]
rs12697542	0.83[EUR][1000 genomes]
rs13154320	0.82[EUR][1000 genomes]
rs13155263	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13159863	0.83[EUR][1000 genomes]
rs13164666	0.81[EUR][1000 genomes]
rs13168463	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13171832	0.83[EUR][1000 genomes]
rs13172845	0.82[EUR][1000 genomes]
rs13178571	0.84[EUR][1000 genomes]
rs13178889	0.83[EUR][1000 genomes]
rs13180168	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13180635	0.83[ASN][1000 genomes]
rs13181575	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13184479	0.84[EUR][1000 genomes]
rs13189439	0.80[EUR][1000 genomes]
rs13189671	0.83[EUR][1000 genomes]
rs13436333	0.84[EUR][1000 genomes]
rs28820612	0.83[EUR][1000 genomes]
rs28868066	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28892397	0.83[EUR][1000 genomes]
rs34259003	0.81[EUR][1000 genomes]
rs34347294	0.81[EUR][1000 genomes]
rs34532845	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35080434	0.81[EUR][1000 genomes]
rs35247978	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35550270	0.81[EUR][1000 genomes]
rs4128581	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4128582	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4128583	0.83[EUR][1000 genomes]
rs4975918	0.81[EUR][1000 genomes]
rs4975928	0.84[EUR][1000 genomes]
rs4975933	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4975934	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4975936	0.83[EUR][1000 genomes]
rs4975948	0.84[EUR][1000 genomes]
rs4975949	0.82[EUR][1000 genomes]
rs4975973	0.86[EUR][1000 genomes]
rs61252746	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62370827	0.80[EUR][1000 genomes]
rs62370828	0.82[EUR][1000 genomes]
rs71584786	0.82[EUR][1000 genomes]
rs72762292	0.84[EUR][1000 genomes]
rs7293306	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7293323	0.82[EUR][1000 genomes]
rs7293362	0.81[EUR][1000 genomes]
rs7293374	0.83[EUR][1000 genomes]
rs7293390	0.85[EUR][1000 genomes]
rs7293400	0.84[EUR][1000 genomes]
rs7293427	0.84[EUR][1000 genomes]
rs7293428	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7293453	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7293461	0.81[EUR][1000 genomes]
rs7293466	0.82[EUR][1000 genomes]
rs7293469	0.82[EUR][1000 genomes]
rs7293470	0.81[EUR][1000 genomes]
rs7293503	0.82[EUR][1000 genomes]
rs7293504	0.84[EUR][1000 genomes]
rs7293505	0.84[EUR][1000 genomes]
rs7444177	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8175379	0.90[AMR][1000 genomes]
rs8175401	0.81[EUR][1000 genomes]
rs8175405	0.82[EUR][1000 genomes]
rs8175437	0.82[EUR][1000 genomes]
rs8185010	0.86[EUR][1000 genomes]
rs8185047	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8185071	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8185092	0.82[EUR][1000 genomes]
rs8185115	0.81[EUR][1000 genomes]
rs8185213	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8185214	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8185235	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8185240	0.83[EUR][1000 genomes]
rs8185242	0.84[EUR][1000 genomes]
rs8185249	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8185259	0.83[EUR][1000 genomes]
rs8185387	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8188061	0.82[EUR][1000 genomes]
rs8188062	0.82[EUR][1000 genomes]
rs8188104	0.82[EUR][1000 genomes]
rs8188113	0.84[EUR][1000 genomes]
rs8188148	0.84[EUR][1000 genomes]
rs8188159	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8188169	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8188184	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8188186	0.82[EUR][1000 genomes]
rs8188196	0.82[EUR][1000 genomes]
rs8188219	0.82[EUR][1000 genomes]
rs8188224	0.82[EUR][1000 genomes]
rs8188250	0.83[EUR][1000 genomes]
rs8188279	0.81[EUR][1000 genomes]
rs8188295	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:87 , 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	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
4	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
5	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
6	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
7	nsv597999	chr5:45854627-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv462138	chr5:45857129-46287112	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv598000	chr5:45857129-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv598001	chr5:45858842-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1029040	chr5:45888504-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	nsv1030131	chr5:45916036-46271096	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	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
19	nsv598002	chr5:45916756-46275684	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1015624	chr5:45921127-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	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
22	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
23	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
24	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
25	nsv1033036	chr5:45953688-46334867	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
26	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
27	nsv1034167	chr5:45962084-46334867	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
28	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
29	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
30	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
31	nsv462152	chr5:46048668-46265302	Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv462153	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv462154	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv462155	chr5:46048668-46287112	ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv462156	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv462157	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv462158	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv598007	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
39	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
40	nsv1030599	chr5:46106823-46313629	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
41	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
42	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
43	nsv1016682	chr5:46136820-46271096	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv1019323	chr5:46136820-46313629	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
45	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
46	nsv482693	chr5:46144519-46323048	ZNF genes & repeats Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv1016474	chr5:46151819-46273490	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
48	nsv1020434	chr5:46151819-46334867	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
49	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
50	nsv1015614	chr5:46152428-46334867	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8188199	LOC647121	Cis_chr	lymphoblastoid	RTeQTL
rs8188199	PARP8	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46263200-46264800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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