Variant report

Variant	rs1618605
Chromosome Location	chr11:67252177-67252178
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr11:67251687-67252250	K562	blood:	n/a	n/a
2	POLR2A	chr11:67251377-67252947	GM12892	blood:	n/a	n/a
3	CTCF	chr11:67252100-67252250	GM12868	blood:	n/a	n/a
4	ATF2	chr11:67251537-67252877	GM12878	blood:	n/a	n/a
5	EP300	chr11:67251826-67252178	K562	blood:	n/a	n/a
6	BCLAF1	chr11:67252162-67252891	GM12878	blood:	n/a	n/a
7	YY1	chr11:67252167-67252761	GM12878	blood:	n/a	n/a
8	ELF1	chr11:67252148-67252817	GM12878	blood:	n/a	n/a
9	MTA3	chr11:67249673-67252980	GM12878	blood:	n/a	n/a
10	CTCF	chr11:67252100-67252250	GM12867	blood:	n/a	n/a
11	RCOR1	chr11:67251773-67252238	K562	blood:	n/a	n/a
12	NFATC1	chr11:67251567-67252963	GM12878	blood:	n/a	n/a
13	STAT5A	chr11:67251732-67252830	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:67249956-67252944	GM12891	blood:	n/a	n/a
15	NFATC1	chr11:67251870-67252726	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:67251297-67253153	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:67249953-67252925	Raji	blood:	n/a	n/a
18	POLR2A	chr11:67251363-67252898	GM12891	blood:	n/a	n/a
19	TAF1	chr11:67251695-67252856	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:67250212-67253032	GM12892	blood:	n/a	n/a
21	NFIC	chr11:67251784-67252358	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:67252085-67252932	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:67251368-67252928	GM12891	blood:	n/a	n/a
24	POU2F2	chr11:67252164-67252890	GM12891	blood:	n/a	n/a
25	FOXM1	chr11:67251799-67252869	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:67251170-67252951	GM12878	blood:	n/a	n/a
27	EBF1	chr11:67252170-67252830	GM12878	blood:	n/a	n/a
28	POU2F2	chr11:67252155-67252881	GM12878	blood:	n/a	n/a
29	RCOR1	chr11:67251601-67252778	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:67252047-67252832	GM12878	blood:	n/a	n/a
31	RUNX3	chr11:67251479-67252854	GM12878	blood:	n/a	n/a
32	EP300	chr11:67251639-67252789	GM12878	blood:	n/a	n/a
33	STAT5A	chr11:67251745-67252781	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:67251356-67252953	GM12891	blood:	n/a	n/a
35	POLR2A	chr11:67251402-67252936	GM12878	blood:	n/a	n/a
36	MAZ	chr11:67251487-67252799	GM12878	blood:	n/a	n/a
37	RUNX3	chr11:67251420-67252898	GM12878	blood:	n/a	n/a
38	FOXM1	chr11:67251629-67252756	GM12878	blood:	n/a	n/a
39	POLR2A	chr11:67251288-67252931	GM12892	blood:	n/a	n/a
40	WRNIP1	chr11:67251624-67252807	GM12878	blood:	n/a	n/a
41	MXI1	chr11:67251471-67252898	GM12878	blood:	n/a	n/a
42	PML	chr11:67249765-67252954	GM12878	blood:	n/a	n/a
43	ZEB1	chr11:67251953-67252424	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:67251407-67252889	GM18505	blood:	n/a	n/a
45	POLR2A	chr11:67249823-67253020	GM12892	blood:	n/a	n/a
46	NFIC	chr11:67251390-67252967	GM12878	blood:	n/a	n/a
47	CHD1	chr11:67251249-67252821	GM12878	blood:	n/a	n/a
48	RELA	chr11:67251255-67252909	GM12891	blood:	n/a	n/a
49	MTA3	chr11:67251293-67252988	GM12878	blood:	n/a	n/a
50	BHLHE40	chr11:67251386-67252821	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67250774..67252740-chr11:67267582..67269484,2	MCF-7	breast:
2	chr11:67249912..67253635-chr11:67270546..67273534,5	K562	blood:
3	chr11:67250656..67253599-chr11:67256113..67260551,5	K562	blood:
4	chr11:67138872..67142169-chr11:67249496..67254071,4	MCF-7	breast:
5	chr11:67204772..67206774-chr11:67250564..67253520,2	K562	blood:
6	chr11:67247191..67252288-chr11:67270350..67277699,12	MCF-7	breast:
7	chr11:67234942..67238660-chr11:67246245..67252394,7	MCF-7	breast:
8	chr11:67250658..67253558-chr11:67351233..67353250,2	K562	blood:
9	chr11:67176577..67178931-chr11:67250966..67253943,2	MCF-7	breast:
10	chr11:67204772..67206775-chr11:67251398..67253520,2	K562	blood:
11	chr11:67250117..67252279-chr11:67255664..67259072,3	MCF-7	breast:
12	chr11:67250506..67252570-chr11:67374037..67375559,2	K562	blood:
13	chr11:67249454..67253550-chr11:67271231..67274487,6	MCF-7	breast:

No data

Variant related genes	Relation type
AIP	TF binding region
ENSG00000256514	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000213402	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000184224	Chromatin interaction
ENSG00000084207	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 137 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10896175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227796	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11227804	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11821703	1.00[EUR][1000 genomes]
rs12288316	1.00[EUR][1000 genomes]
rs12293606	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1382089	1.00[EUR][1000 genomes]
rs1620333	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1624189	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1625032	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1625892	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1630068	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1632616	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638558	0.94[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638559	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638560	1.00[MEX][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638561	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638562	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638563	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638570	1.00[EUR][1000 genomes]
rs1638572	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[EUR][1000 genomes]
rs1638575	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638581	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638584	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638585	0.90[AMR][1000 genomes]
rs1638587	1.00[EUR][1000 genomes]
rs1790729	1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[EUR][1000 genomes]
rs1790730	1.00[EUR][1000 genomes]
rs1790734	1.00[EUR][1000 genomes]
rs1790736	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790744	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790745	1.00[EUR][1000 genomes]
rs1790749	0.87[MKK][hapmap];1.00[EUR][1000 genomes]
rs1790750	1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[EUR][1000 genomes]
rs1790754	1.00[EUR][1000 genomes]
rs1790756	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790763	0.94[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790764	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790765	1.00[EUR][1000 genomes]
rs1824712	1.00[EUR][1000 genomes]
rs2054409	1.00[EUR][1000 genomes]
rs2447590	1.00[EUR][1000 genomes]
rs2447591	1.00[EUR][1000 genomes]
rs2447597	1.00[EUR][1000 genomes]
rs2511058	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2511059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2514013	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2514014	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2514015	1.00[EUR][1000 genomes]
rs2514024	1.00[EUR][1000 genomes]
rs2514045	1.00[EUR][1000 genomes]
rs2514064	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs2514259	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2514262	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2514263	1.00[EUR][1000 genomes]
rs2885171	1.00[EUR][1000 genomes]
rs3016861	1.00[EUR][1000 genomes]
rs35363135	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36052107	1.00[EUR][1000 genomes]
rs5019164	1.00[EUR][1000 genomes]
rs56050553	1.00[EUR][1000 genomes]
rs56102510	1.00[EUR][1000 genomes]
rs56405884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57047868	1.00[EUR][1000 genomes]
rs57134963	1.00[EUR][1000 genomes]
rs57748654	1.00[EUR][1000 genomes]
rs57749415	1.00[EUR][1000 genomes]
rs57757103	1.00[EUR][1000 genomes]
rs57955602	1.00[EUR][1000 genomes]
rs58999825	1.00[EUR][1000 genomes]
rs59500232	1.00[EUR][1000 genomes]
rs596431	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs596944	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs601363	0.89[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60136955	1.00[EUR][1000 genomes]
rs602220	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60251934	1.00[EUR][1000 genomes]
rs602720	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs604540	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60521870	1.00[EUR][1000 genomes]
rs611697	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61282424	1.00[EUR][1000 genomes]
rs61429992	1.00[EUR][1000 genomes]
rs61610719	1.00[EUR][1000 genomes]
rs618633	1.00[EUR][1000 genomes]
rs641081	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6591267	1.00[EUR][1000 genomes]
rs7104627	1.00[EUR][1000 genomes]
rs7121803	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7124630	1.00[MEX][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490545	1.00[EUR][1000 genomes]
rs73490554	1.00[EUR][1000 genomes]
rs73506004	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73506015	1.00[EUR][1000 genomes]
rs73506054	1.00[EUR][1000 genomes]
rs73506056	1.00[EUR][1000 genomes]
rs73506069	1.00[EUR][1000 genomes]
rs73506074	1.00[EUR][1000 genomes]
rs743679	1.00[EUR][1000 genomes]
rs7934566	1.00[EUR][1000 genomes]
rs7941752	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7947114	1.00[EUR][1000 genomes]
rs8191436	1.00[EUR][1000 genomes]
rs8191446	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs8191449	1.00[EUR][1000 genomes]
rs949250	0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949251	0.94[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949252	1.00[MEX][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949253	0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949254	0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949255	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers 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	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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 miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
8	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers 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	154 gene(s)	inside rSNPs	diseases
9	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
10	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer 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	176 gene(s)	inside rSNPs	diseases
12	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' 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	146 gene(s)	inside rSNPs	diseases
15	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
16	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription 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	132 gene(s)	inside rSNPs	diseases
17	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
18	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
21	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh 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	146 gene(s)	inside rSNPs	diseases
22	nsv1067892	chr11:67249418-67255234	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1618605	RPS6KB2	cis	lymphoblastoid	seeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67250400-67253000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:67250600-67252200	Flanking Active TSS	Dnd41	blood
3	chr11:67250600-67252600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr11:67250600-67252600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:67250600-67252600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:67250600-67252600	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr11:67250600-67252800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:67250600-67253000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr11:67250600-67253000	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr11:67250600-67253000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr11:67250600-67253000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr11:67250600-67253000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr11:67250600-67253000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:67250600-67253000	Flanking Active TSS	GM12878-XiMat	blood
15	chr11:67250600-67253000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr11:67250800-67252600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr11:67250800-67252800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr11:67250800-67253000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr11:67250800-67253000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:67250800-67254800	Weak transcription	Ovary	ovary
21	chr11:67251000-67252200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:67251000-67252200	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr11:67251000-67252200	Enhancers	Stomach Mucosa	stomach
24	chr11:67251000-67252800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr11:67251000-67253200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr11:67251000-67253800	Enhancers	Primary hematopoietic stem cells	blood
27	chr11:67251000-67253800	Enhancers	Lung	lung
28	chr11:67251000-67254400	Enhancers	Spleen	Spleen
29	chr11:67251000-67257000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:67251000-67271000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:67251200-67252200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:67251200-67252400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:67251200-67252400	Enhancers	Fetal Intestine Large	intestine
34	chr11:67251200-67252600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:67251200-67252600	Enhancers	Placenta	Placenta
36	chr11:67251200-67252600	Enhancers	Psoas Muscle	Psoas
37	chr11:67251200-67252800	Enhancers	Left Ventricle	heart
38	chr11:67251200-67252800	Enhancers	Pancreas	Pancrea
39	chr11:67251200-67257400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:67251200-67257400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:67251400-67252200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:67251400-67252400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:67251400-67252600	Genic enhancers	Fetal Stomach	stomach
44	chr11:67251400-67252600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:67251400-67252800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:67251400-67252800	Enhancers	Liver	Liver
47	chr11:67251400-67252800	Genic enhancers	Fetal Muscle Trunk	muscle
48	chr11:67251400-67252800	Genic enhancers	Fetal Muscle Leg	muscle
49	chr11:67251400-67252800	Enhancers	Right Atrium	heart
50	chr11:67251400-67253600	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links