Variant report

Variant	rs6519408
Chromosome Location	chr22:20884910-20884911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:20883476..20889508-chr22:20903934..20910202,8	K562	blood:
2	chr22:20882988..20885165-chr22:20886083..20887704,3	K562	blood:
3	chr22:20884488..20886881-chr22:20898531..20901359,3	K562	blood:
4	chr22:20860720..20866380-chr22:20882810..20889263,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099917	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1076348	0.90[ASN][1000 genomes]
rs11912433	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12163475	0.85[ASN][1000 genomes]
rs12483842	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs12484039	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs12484159	0.90[ASN][1000 genomes]
rs12484576	0.86[CHB][hapmap];0.93[CHD][hapmap];0.84[ASN][1000 genomes]
rs12484645	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs12484676	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs12484690	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs12484992	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs165687	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17211374	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2079096	0.90[ASN][1000 genomes]
rs2269832	0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[ASN][1000 genomes]
rs2269833	0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[ASN][1000 genomes]
rs2285698	0.81[CHB][hapmap]
rs2329363	0.90[ASN][1000 genomes]
rs5750555	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5750938	0.90[ASN][1000 genomes]
rs5751024	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs5751254	0.88[ASN][1000 genomes]
rs5751448	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs5751537	0.83[ASN][1000 genomes]
rs5751540	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs5756526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5756597	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs5756605	0.89[ASN][1000 genomes]
rs5756675	0.90[ASN][1000 genomes]
rs5756801	0.90[ASN][1000 genomes]
rs5757972	0.90[ASN][1000 genomes]
rs5758363	0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs5758417	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs5758468	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs5758631	0.87[ASN][1000 genomes]
rs5759268	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs5759311	0.95[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs5759314	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs5759416	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs5759455	0.81[CHB][hapmap];0.93[CHD][hapmap]
rs6000620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7291930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs741191	0.81[CHB][hapmap];0.93[CHD][hapmap]
rs9637342	0.90[ASN][1000 genomes]
rs997144	0.90[ASN][1000 genomes]
rs997145	0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518950	chr22:20306993-20965555	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
2	nsv432174	chr22:20309346-21102446	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
3	nsv1056614	chr22:20470598-21462724	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv828954	chr22:20641693-20904711	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv491637	chr22:20659547-21440514	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
6	nsv916634	chr22:20659547-21464119	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
7	nsv533942	chr22:20659547-21505417	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
8	nsv529472	chr22:20659547-21561514	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
9	nsv914390	chr22:20697466-21460008	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
10	nsv588291	chr22:20698139-21461274	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
11	nsv917647	chr22:20708889-21440515	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
12	nsv531742	chr22:20708890-21407690	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
13	nsv533852	chr22:20708890-21561514	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
14	nsv1061867	chr22:20716924-21462446	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
15	nsv1058870	chr22:20716924-21567219	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
16	nsv918225	chr22:20716924-21611338	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
17	nsv914393	chr22:20718116-21034788	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
18	nsv531744	chr22:20718170-21427936	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
19	nsv915954	chr22:20732437-21505417	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
20	nsv588293	chr22:20732809-21004476	Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	nsv948669	chr22:20732809-21461607	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
22	nsv531746	chr22:20733427-21505417	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
23	nsv588294	chr22:20733495-21365384	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
24	nsv588295	chr22:20733495-21462353	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
25	nsv588296	chr22:20733495-21465780	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
26	nsv1056065	chr22:20734244-21460658	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
27	nsv544586	chr22:20734244-21460658	Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
28	nsv834136	chr22:20738730-20891767	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
29	nsv1067074	chr22:20739124-21440654	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
30	nsv544587	chr22:20739124-21440654	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
31	nsv1066482	chr22:20739125-21440655	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
32	nsv544588	chr22:20739125-21440655	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
33	nsv1065725	chr22:20739324-20927615	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
34	nsv544589	chr22:20739324-20927615	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
35	nsv1063333	chr22:20739324-21353297	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
36	nsv544590	chr22:20739324-21353297	Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
37	nsv1059978	chr22:20739324-21440515	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
38	nsv544591	chr22:20739324-21440515	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
39	nsv949306	chr22:20742450-21461607	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
40	nsv523162	chr22:20743536-21462353	Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
41	nsv1056565	chr22:20745762-21460658	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
42	nsv529335	chr22:20748976-21499971	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
43	nsv533337	chr22:20754407-21440515	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
44	nsv918090	chr22:20754421-21505417	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
45	nsv491620	chr22:20754422-21440514	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
46	nsv1067639	chr22:20754422-21505417	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
47	nsv529720	chr22:20754422-21505417	Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
48	nsv834138	chr22:20759359-20951242	Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
49	nsv1058923	chr22:20855359-21000991	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
50	nsv1065938	chr22:20863293-20992701	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6519408	UBE2L3	cis	parietal	SCAN
rs6519408	DGCR6	cis	parietal	SCAN
rs6519408	SNAP29	cis	cerebellum	SCAN
rs6519408	GSC2	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20864400-20913000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:20864800-20903600	Weak transcription	Fetal Brain Male	brain
3	chr22:20878800-20886000	Weak transcription	Aorta	Aorta
4	chr22:20880200-20887400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr22:20880400-20888600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr22:20880400-20889200	Strong transcription	Dnd41	blood
7	chr22:20880600-20886200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
8	chr22:20881400-20885000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:20881400-20885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr22:20881400-20885600	Strong transcription	Thymus	Thymus
11	chr22:20881400-20891800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:20881600-20885000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:20881600-20885200	Weak transcription	Fetal Kidney	kidney
14	chr22:20881600-20885400	Strong transcription	K562	blood
15	chr22:20882600-20885400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr22:20882800-20886000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:20883000-20904600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:20883200-20885000	Weak transcription	Small Intestine	intestine
19	chr22:20883200-20885400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr22:20883200-20886000	Weak transcription	Brain Germinal Matrix	brain
21	chr22:20883200-20900000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr22:20883400-20885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:20883400-20885200	Weak transcription	Liver	Liver
24	chr22:20883400-20885400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr22:20883400-20885400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:20883600-20885000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:20883600-20889800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr22:20883800-20885000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:20883800-20891400	Enhancers	Placenta	Placenta
30	chr22:20884200-20885200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:20884200-20885800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:20884200-20886000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:20884200-20887200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr22:20884200-20887600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr22:20884200-20888200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr22:20884200-20889800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr22:20884200-20892200	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr22:20884400-20885000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:20884400-20885000	Enhancers	Duodenum Mucosa	Duodenum
40	chr22:20884400-20885000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr22:20884400-20885200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:20884400-20885200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr22:20884400-20885400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
44	chr22:20884400-20885600	Genic enhancers	Fetal Intestine Large	intestine
45	chr22:20884400-20885600	Genic enhancers	HepG2	liver
46	chr22:20884400-20885800	Flanking Active TSS	NHEK	skin
47	chr22:20884400-20886000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr22:20884400-20886000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr22:20884400-20886000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr22:20884400-20886000	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links