Variant report

Variant	rs10070671
Chromosome Location	chr5:46266119-46266120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 174 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10038249	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10043557	0.81[ASN][1000 genomes]
rs10051371	0.84[ASN][1000 genomes]
rs10054134	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10056067	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10056731	0.83[ASN][1000 genomes]
rs10056884	0.81[ASN][1000 genomes]
rs10058281	0.85[ASN][1000 genomes]
rs10061101	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10064681	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10064792	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10065920	0.83[EUR][1000 genomes]
rs10072776	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10072945	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10074383	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10075550	0.82[ASN][1000 genomes]
rs10076606	0.82[ASN][1000 genomes]
rs10473416	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10805711	0.86[ASN][1000 genomes]
rs10941746	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10941759	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10941760	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10941761	0.85[ASN][1000 genomes]
rs11948771	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11950077	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11958686	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11960110	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12109835	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12697539	0.85[ASN][1000 genomes]
rs12697541	0.82[ASN][1000 genomes]
rs12697542	0.81[ASN][1000 genomes]
rs12697543	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13157222	0.82[ASN][1000 genomes]
rs13166566	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13168431	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13178648	0.81[ASN][1000 genomes]
rs13180509	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13184479	0.86[ASN][1000 genomes]
rs13188786	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13436334	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28892397	0.81[ASN][1000 genomes]
rs34009314	0.81[ASN][1000 genomes]
rs34186279	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4128583	0.87[ASN][1000 genomes]
rs4975911	0.87[AMR][1000 genomes]
rs4975914	0.86[AMR][1000 genomes]
rs4975972	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4975977	0.87[AMR][1000 genomes]
rs62370827	0.83[ASN][1000 genomes]
rs7293335	0.81[ASN][1000 genomes]
rs7293353	0.82[ASN][1000 genomes]
rs7293355	0.82[ASN][1000 genomes]
rs7293424	0.80[ASN][1000 genomes]
rs7293427	0.87[ASN][1000 genomes]
rs7293434	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7293466	0.82[ASN][1000 genomes]
rs8175408	0.81[ASN][1000 genomes]
rs8175415	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8175440	0.80[ASN][1000 genomes]
rs8185100	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8185101	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8185111	0.81[ASN][1000 genomes]
rs8185114	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8185115	0.83[ASN][1000 genomes]
rs8185183	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8185185	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8185217	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8185226	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8185255	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8185259	0.83[ASN][1000 genomes]
rs8185287	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8185301	0.86[AMR][1000 genomes]
rs8185314	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8185385	0.84[AMR][1000 genomes]
rs8188012	0.82[ASN][1000 genomes]
rs8188050	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8188054	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8188077	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8188098	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8188149	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8188196	0.84[ASN][1000 genomes]
rs8188197	0.83[ASN][1000 genomes]
rs8188231	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8188258	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8188276	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8188292	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8188296	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9717195	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:86 , 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	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
4	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
5	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
6	nsv597999	chr5:45854627-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv462138	chr5:45857129-46287112	ZNF genes & repeats Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv598000	chr5:45857129-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv598001	chr5:45858842-46287112	ZNF genes & repeats Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1029040	chr5:45888504-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	nsv1030131	chr5:45916036-46271096	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	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
18	nsv598002	chr5:45916756-46275684	ZNF genes & repeats Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1015624	chr5:45921127-46271096	ZNF genes & repeats Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	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
21	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
22	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
23	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
24	nsv1033036	chr5:45953688-46334867	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
25	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
26	nsv1034167	chr5:45962084-46334867	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
27	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
28	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
29	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
30	nsv462153	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv462154	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv462155	chr5:46048668-46287112	ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv462156	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv462157	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv462158	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv598007	chr5:46048668-46287112	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
37	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
38	nsv1030599	chr5:46106823-46313629	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
39	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
40	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
41	nsv1016682	chr5:46136820-46271096	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
42	nsv1019323	chr5:46136820-46313629	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
43	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
44	nsv482693	chr5:46144519-46323048	ZNF genes & repeats Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv1016474	chr5:46151819-46273490	ZNF genes & repeats Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
46	nsv1020434	chr5:46151819-46334867	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
47	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
48	nsv1015614	chr5:46152428-46334867	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
49	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
50	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10070671	MRPS30	cis	cerebellum	SCAN
rs10070671	LOC647121	Cis_chr	lymphoblastoid	RTeQTL
rs10070671	PARP8	Cis_chr	lymphoblastoid	RTeQTL
rs10070671	EMB	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46266000-46268200	ZNF genes & repeats	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links