Variant report

Variant	rs10213280
Chromosome Location	chr4:119130224-119130225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10001926	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10002634	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10008013	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014055	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014957	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016206	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016301	0.97[ASN][1000 genomes]
rs10018844	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024837	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025690	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10033927	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1028091	0.80[ASN][1000 genomes]
rs1045817	0.93[ASN][1000 genomes]
rs11721634	0.80[ASN][1000 genomes]
rs11723877	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11723996	0.93[ASN][1000 genomes]
rs11726746	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726838	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727684	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727817	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11728941	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11730327	0.80[ASN][1000 genomes]
rs11730687	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731179	0.93[ASN][1000 genomes]
rs11734145	0.93[ASN][1000 genomes]
rs11930782	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933280	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934183	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944227	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945329	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945537	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945882	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947244	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947630	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114867	0.97[ASN][1000 genomes]
rs13129847	0.97[ASN][1000 genomes]
rs13435006	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403845	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403846	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523744	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523745	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523746	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1589718	0.97[ASN][1000 genomes]
rs17515832	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17516430	0.80[ASN][1000 genomes]
rs17594054	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17594243	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1829910	0.83[AFR][1000 genomes]
rs1996725	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030633	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030634	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2204269	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271577	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271578	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272160	0.93[ASN][1000 genomes]
rs28396217	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28508556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28661939	0.93[ASN][1000 genomes]
rs3817274	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4546315	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007507	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56258393	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56305917	0.80[ASN][1000 genomes]
rs56339949	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56390335	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57605165	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58798110	1.00[ASN][1000 genomes]
rs60858456	0.93[ASN][1000 genomes]
rs61342457	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61443542	1.00[ASN][1000 genomes]
rs62326151	1.00[ASN][1000 genomes]
rs6534088	0.93[ASN][1000 genomes]
rs6822408	0.93[ASN][1000 genomes]
rs6822996	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824418	0.85[AFR][1000 genomes]
rs6842372	1.00[ASN][1000 genomes]
rs6842689	1.00[ASN][1000 genomes]
rs6853879	0.97[ASN][1000 genomes]
rs6855052	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855536	0.90[ASN][1000 genomes]
rs6856076	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71608347	0.97[ASN][1000 genomes]
rs71608349	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907147	0.93[ASN][1000 genomes]
rs72907175	0.93[ASN][1000 genomes]
rs72909175	1.00[ASN][1000 genomes]
rs72909186	1.00[ASN][1000 genomes]
rs72917104	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917146	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917175	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917179	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7661522	0.97[ASN][1000 genomes]
rs7685455	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992827	0.97[ASN][1000 genomes]
rs9996753	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996762	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1008236	chr4:118989467-119154024	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999152	chr4:119001143-119138322	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv4485	chr4:119103349-119144334	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	esv3524414	chr4:119106398-119131703	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	n/a
11	esv3524415	chr4:119106398-119131703	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	inside rSNPs	n/a
12	nsv511250	chr4:119115366-119134308	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
13	nsv966561	chr4:119115482-119130733	Enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
14	nsv10556	chr4:119115884-119130544	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a
15	nsv820226	chr4:119120959-119130329	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	n/a
16	esv3466068	chr4:119123504-119132102	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	n/a
17	esv3529961	chr4:119124154-119131352	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	n/a
18	esv3529958	chr4:119124654-119131252	Enhancers ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	inside rSNPs	n/a
19	nsv513162	chr4:119124748-119130407	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	n/a
20	esv3466065	chr4:119125280-119130307	Enhancers ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
21	esv3529959	chr4:119125310-119130313	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
22	esv3529963	chr4:119125316-119130297	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	n/a
23	esv3466067	chr4:119125325-119130269	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	n/a
24	esv3529965	chr4:119125329-119130238	Strong transcription ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
25	esv3466062	chr4:119125335-119130273	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
26	esv3466066	chr4:119125349-119130227	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	n/a
27	esv3529957	chr4:119125354-119130250	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	n/a
28	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
29	esv3529960	chr4:119125362-119130249	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
30	esv20674	chr4:119125696-119130309	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
31	nsv514247	chr4:119125920-119130280	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	n/a
32	nsv595300	chr4:119126335-119134308	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a
33	nsv595321	chr4:119127398-119134308	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
34	nsv595324	chr4:119127445-119134308	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
35	nsv595330	chr4:119128463-119134308	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10213280	SNHG8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119127600-119131200	Strong transcription	Dnd41	blood
2	chr4:119129000-119130600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:119129200-119130400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:119129400-119130400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:119129800-119130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:119130000-119130400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:119130200-119130600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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