Variant report

Variant	rs8188193
Chromosome Location	chr5:46122530-46122531
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 303 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:228)

rs_ID	r²[population]
rs10035118	0.87[ASN][1000 genomes]
rs10038249	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10039961	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10040808	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10043557	0.84[ASN][1000 genomes]
rs10043652	0.88[ASN][1000 genomes]
rs10045812	0.88[AMR][1000 genomes]
rs10050829	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10051107	0.87[ASN][1000 genomes]
rs10051125	0.87[ASN][1000 genomes]
rs10052339	0.83[AMR][1000 genomes]
rs10052784	0.86[ASN][1000 genomes]
rs10052940	0.87[ASN][1000 genomes]
rs10053240	0.88[ASN][1000 genomes]
rs10053434	0.88[ASN][1000 genomes]
rs10054000	0.88[ASN][1000 genomes]
rs10054419	0.85[AMR][1000 genomes]
rs10054896	0.88[ASN][1000 genomes]
rs10055046	0.88[ASN][1000 genomes]
rs10055176	0.88[ASN][1000 genomes]
rs10055950	0.93[ASN][1000 genomes]
rs10056067	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10056731	0.91[ASN][1000 genomes]
rs10056884	0.93[ASN][1000 genomes]
rs10058962	0.88[ASN][1000 genomes]
rs10059377	0.88[ASN][1000 genomes]
rs10059426	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10060199	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10061101	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10061974	0.87[ASN][1000 genomes]
rs10063187	0.88[ASN][1000 genomes]
rs10063585	0.87[ASN][1000 genomes]
rs10064681	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10064792	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10064905	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10065920	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10066664	0.87[ASN][1000 genomes]
rs10066816	0.88[ASN][1000 genomes]
rs10067132	0.86[AMR][1000 genomes]
rs10067655	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10068848	0.88[ASN][1000 genomes]
rs10068855	0.83[ASN][1000 genomes]
rs10072776	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10072945	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10075544	0.86[ASN][1000 genomes]
rs10075550	0.90[ASN][1000 genomes]
rs10076606	0.92[ASN][1000 genomes]
rs10076982	0.82[ASN][1000 genomes]
rs10078560	0.87[ASN][1000 genomes]
rs10078628	0.88[ASN][1000 genomes]
rs10078928	0.88[ASN][1000 genomes]
rs10079238	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10434612	0.87[ASN][1000 genomes]
rs10434613	0.87[ASN][1000 genomes]
rs10941732	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10941740	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10941746	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11486611	0.98[ASN][1000 genomes]
rs11948771	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11949490	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11950077	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11953025	0.87[ASN][1000 genomes]
rs11953028	0.87[ASN][1000 genomes]
rs11957047	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11958516	0.87[ASN][1000 genomes]
rs11958686	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11959541	0.87[ASN][1000 genomes]
rs11960110	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12108841	0.88[ASN][1000 genomes]
rs12109014	0.86[ASN][1000 genomes]
rs12109835	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12188518	0.81[ASN][1000 genomes]
rs12651760	0.88[ASN][1000 genomes]
rs12654375	0.86[AMR][1000 genomes]
rs12656025	0.87[ASN][1000 genomes]
rs12656601	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12657581	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12658237	0.86[ASN][1000 genomes]
rs12658533	0.92[ASN][1000 genomes]
rs12658590	0.87[ASN][1000 genomes]
rs12697495	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12697539	0.88[ASN][1000 genomes]
rs12697541	0.85[ASN][1000 genomes]
rs12697542	0.84[ASN][1000 genomes]
rs12697543	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13154320	0.85[ASN][1000 genomes]
rs13156708	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13157222	0.90[ASN][1000 genomes]
rs13159863	0.87[ASN][1000 genomes]
rs13160523	0.87[ASN][1000 genomes]
rs13164666	0.87[ASN][1000 genomes]
rs13166566	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13168431	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13168838	0.88[AMR][1000 genomes]
rs13170769	0.93[ASN][1000 genomes]
rs13172845	0.85[ASN][1000 genomes]
rs13174894	0.92[ASN][1000 genomes]
rs13178571	0.85[ASN][1000 genomes]
rs13178604	0.83[ASN][1000 genomes]
rs13178648	0.93[ASN][1000 genomes]
rs13178889	0.84[ASN][1000 genomes]
rs13186251	0.84[ASN][1000 genomes]
rs13187601	0.87[ASN][1000 genomes]
rs13187899	0.88[ASN][1000 genomes]
rs13188786	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13190590	0.95[ASN][1000 genomes]
rs13354272	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13361118	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13362078	0.84[AMR][1000 genomes]
rs28611436	0.87[ASN][1000 genomes]
rs28769634	0.91[ASN][1000 genomes]
rs28798176	0.88[ASN][1000 genomes]
rs28799356	0.92[ASN][1000 genomes]
rs34009314	0.93[ASN][1000 genomes]
rs34186279	0.91[ASN][1000 genomes]
rs34347294	0.88[ASN][1000 genomes]
rs34463551	0.88[ASN][1000 genomes]
rs34492793	0.87[ASN][1000 genomes]
rs35142578	0.88[ASN][1000 genomes]
rs35550270	0.87[ASN][1000 genomes]
rs35553774	0.87[ASN][1000 genomes]
rs35874143	0.88[ASN][1000 genomes]
rs4259174	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4263507	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4274990	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4277924	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4292455	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4302598	0.88[AMR][1000 genomes]
rs4367307	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4383730	0.86[AMR][1000 genomes]
rs4389698	0.89[AMR][1000 genomes]
rs4409106	0.86[AMR][1000 genomes]
rs4421114	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4426925	0.89[AMR][1000 genomes]
rs4431354	0.89[AMR][1000 genomes]
rs4441886	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4455568	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4484447	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4489075	0.86[AMR][1000 genomes]
rs4492123	0.84[EUR][1000 genomes]
rs4498260	0.89[AMR][1000 genomes]
rs4499842	0.87[AMR][1000 genomes]
rs4533899	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4541667	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4551075	0.82[AMR][1000 genomes]
rs4569880	0.86[AMR][1000 genomes]
rs4569881	0.86[AMR][1000 genomes]
rs4975885	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56090941	0.88[ASN][1000 genomes]
rs57407363	0.82[AMR][1000 genomes]
rs58111642	0.89[ASN][1000 genomes]
rs62370827	0.91[ASN][1000 genomes]
rs62370828	0.87[ASN][1000 genomes]
rs62372115	0.96[ASN][1000 genomes]
rs62372151	0.88[ASN][1000 genomes]
rs62372152	0.88[ASN][1000 genomes]
rs71584786	0.87[ASN][1000 genomes]
rs7293302	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7293323	0.84[ASN][1000 genomes]
rs7293335	0.93[ASN][1000 genomes]
rs7293353	0.92[ASN][1000 genomes]
rs7293355	0.92[ASN][1000 genomes]
rs7293362	0.87[ASN][1000 genomes]
rs7293420	0.88[ASN][1000 genomes]
rs7293421	0.88[ASN][1000 genomes]
rs7293423	0.88[ASN][1000 genomes]
rs7293424	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7293461	0.87[ASN][1000 genomes]
rs7293466	0.87[ASN][1000 genomes]
rs7293469	0.85[ASN][1000 genomes]
rs7293470	0.85[ASN][1000 genomes]
rs7713759	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7714540	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7714713	0.89[ASN][1000 genomes]
rs7720735	0.89[ASN][1000 genomes]
rs7720870	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8175395	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8175401	0.87[ASN][1000 genomes]
rs8175408	0.93[ASN][1000 genomes]
rs8175409	0.86[ASN][1000 genomes]
rs8175410	0.85[ASN][1000 genomes]
rs8175415	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8175440	0.91[ASN][1000 genomes]
rs8185008	0.85[ASN][1000 genomes]
rs8185016	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8185049	0.83[ASN][1000 genomes]
rs8185059	0.87[ASN][1000 genomes]
rs8185092	0.87[ASN][1000 genomes]
rs8185098	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8185101	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8185111	0.93[ASN][1000 genomes]
rs8185114	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8185115	0.91[ASN][1000 genomes]
rs8185144	0.85[AMR][1000 genomes]
rs8185185	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8185209	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8185217	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8185226	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8185362	0.88[ASN][1000 genomes]
rs8185363	0.88[ASN][1000 genomes]
rs8185384	0.88[ASN][1000 genomes]
rs8187589	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8188012	0.92[ASN][1000 genomes]
rs8188026	0.86[AMR][1000 genomes]
rs8188049	0.87[ASN][1000 genomes]
rs8188050	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8188054	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8188060	0.88[ASN][1000 genomes]
rs8188061	0.87[ASN][1000 genomes]
rs8188062	0.87[ASN][1000 genomes]
rs8188064	0.88[AMR][1000 genomes]
rs8188072	0.87[AMR][1000 genomes]
rs8188104	0.87[ASN][1000 genomes]
rs8188133	0.88[ASN][1000 genomes]
rs8188151	0.81[ASN][1000 genomes]
rs8188186	0.87[ASN][1000 genomes]
rs8188197	0.91[ASN][1000 genomes]
rs8188219	0.85[ASN][1000 genomes]
rs8188224	0.87[ASN][1000 genomes]
rs8188231	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8188233	0.88[ASN][1000 genomes]
rs8188235	0.87[ASN][1000 genomes]
rs8188250	0.85[ASN][1000 genomes]
rs8188258	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8188276	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8188279	0.87[ASN][1000 genomes]
rs8188292	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8188296	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:75 , 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	nsv1031477	chr5:45812775-46160642	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	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
15	nsv597999	chr5:45854627-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv462138	chr5:45857129-46287112	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv598000	chr5:45857129-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	nsv598001	chr5:45858842-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv1034928	chr5:45860010-46224012	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv1029040	chr5:45888504-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	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
22	nsv1030187	chr5:45898541-46199423	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	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
24	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
25	nsv1030508	chr5:45904510-46172365	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv1020606	chr5:45904510-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
27	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
28	nsv1017177	chr5:45906782-46191872	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv1016946	chr5:45906782-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	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
31	nsv1028856	chr5:45916036-46224012	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv1028348	chr5:45916036-46246648	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv1030048	chr5:45916036-46251306	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv1030131	chr5:45916036-46271096	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
35	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
36	nsv598002	chr5:45916756-46275684	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv1034884	chr5:45921127-46152428	ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv1015624	chr5:45921127-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
39	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
40	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
41	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
42	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
43	nsv1034078	chr5:45953688-46199423	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv1023719	chr5:45953688-46246648	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv1024938	chr5:45953688-46251306	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv1033036	chr5:45953688-46334867	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
47	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
48	nsv1032778	chr5:45962084-46172365	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv1034167	chr5:45962084-46334867	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
50	nsv1034032	chr5:45973436-46251306	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8188193	PARP8	Cis_chr	lymphoblastoid	RTeQTL
rs8188193	LOC647121	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46118800-46127400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:46120200-46123000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr5:46121400-46124000	ZNF genes & repeats	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links