Variant report

Variant	rs71480717
Chromosome Location	chr11:4804348-4804349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:4804220-4804370	HBMEC	blood vessel:	n/a	n/a
2	CTCF	chr11:4804240-4804390	GM12868	blood:	n/a	n/a
3	CTCF	chr11:4804260-4804410	AG04450	lung:	n/a	n/a
4	CTCF	chr11:4804260-4804410	GM12872	blood:	n/a	n/a
5	CTCF	chr11:4804240-4804390	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr11:4804247-4804395	IMR90	lung:	n/a	n/a
7	CTCF	chr11:4804200-4804409	K562	blood:	n/a	n/a
8	CTCF	chr11:4804240-4804390	GM12869	blood:	n/a	n/a
9	CTCF	chr11:4804220-4804370	GM12870	blood:	n/a	n/a
10	CTCF	chr11:4804220-4804370	GM12866	blood:	n/a	n/a
11	CTCF	chr11:4804260-4804410	GM12864	blood:	n/a	n/a
12	CTCF	chr11:4804255-4804390	GM12891	blood:	n/a	n/a
13	CTCF	chr11:4804220-4804370	GM12875	blood:	n/a	n/a
14	CTCF	chr11:4804260-4804410	GM12866	blood:	n/a	n/a
15	CTCF	chr11:4804190-4804400	GM12878	blood:	n/a	n/a
16	CTCF	chr11:4804340-4804490	WI-38	lung:	n/a	n/a
17	CTCF	chr11:4804272-4804394	K562	blood:	n/a	n/a
18	CTCF	chr11:4804240-4804390	HEK293	kidney:	n/a	n/a
19	CTCF	chr11:4804220-4804370	GM12864	blood:	n/a	n/a
20	CTCF	chr11:4804260-4804410	GM12874	blood:	n/a	n/a
21	CTCF	chr11:4804278-4804380	GM19238	blood:	n/a	n/a
22	CTCF	chr11:4804240-4804390	GM12872	blood:	n/a	n/a
23	CTCF	chr11:4804220-4804370	GM12865	blood:	n/a	n/a
24	CTCF	chr11:4804220-4804370	K562	blood:	n/a	n/a
25	CTCF	chr11:4804260-4804410	GM12871	blood:	n/a	n/a
26	CTCF	chr11:4804220-4804370	GM12878	blood:	n/a	n/a
27	CTCF	chr11:4804254-4804393	K562	blood:	n/a	n/a
28	CTCF	chr11:4804300-4804450	GM12864	blood:	n/a	n/a
29	CTCF	chr11:4804246-4804395	GM12892	blood:	n/a	n/a
30	RAD21	chr11:4804116-4804511	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr11:4804220-4804370	GM06990	blood:	n/a	n/a
32	CTCF	chr11:4804199-4804444	K562	blood:	n/a	n/a
33	CTCF	chr11:4804240-4804390	GM06990	blood:	n/a	n/a
34	CTCF	chr11:4804200-4804350	AG04449	skin:	n/a	n/a
35	CTCF	chr11:4804259-4804393	GM12878	blood:	n/a	n/a
36	RAD21	chr11:4804188-4804387	IMR90	lung:	n/a	n/a
37	RAD21	chr11:4804222-4804389	GM12878	blood:	n/a	n/a
38	CTCF	chr11:4804280-4804430	GM12871	blood:	n/a	n/a
39	CTCF	chr11:4804200-4804350	GM12874	blood:	n/a	n/a
40	CTCF	chr11:4804240-4804390	GM12873	blood:	n/a	n/a
41	CTCF	chr11:4804260-4804410	AG04449	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
OR51N1P	TF binding region
ENSG00000132256	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1030722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11034067	0.89[AMR][1000 genomes]
rs11034089	0.89[AMR][1000 genomes]
rs11034090	0.89[AMR][1000 genomes]
rs11822216	0.83[EUR][1000 genomes]
rs12785245	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12788102	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12789215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12789492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12791402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12792898	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12793425	0.91[AMR][1000 genomes]
rs12794880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12795212	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12795377	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12797008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12797269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12801309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12801339	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12801465	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12801757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12802561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12802647	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12804065	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12806476	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12808215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1433913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1594811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1594812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1594813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1594814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17227393	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17227456	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17227484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17227547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17227809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17227978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17228092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17228176	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17228183	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17228218	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17247598	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17324609	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17325567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17328565	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17329242	0.89[AMR][1000 genomes]
rs1897739	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2164014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412434	0.98[EUR][1000 genomes]
rs2898964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34009241	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34012768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34024161	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34104979	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34170551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34231378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34233903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34234149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34238074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34238923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34245878	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34296834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34352527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34367456	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34386616	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34471580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34605374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34740482	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34758607	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34774719	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34775015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34798636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34885098	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34971311	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35003053	0.89[AMR][1000 genomes]
rs35045960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35094994	0.89[AMR][1000 genomes]
rs35265535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35324703	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35628152	0.89[AMR][1000 genomes]
rs35632863	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35720831	0.84[AMR][1000 genomes]
rs35838746	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35902686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35918613	0.84[AMR][1000 genomes]
rs35956756	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36009426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36060165	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36093088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910528	0.85[AMR][1000 genomes]
rs4910672	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4910673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910677	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4910691	0.84[AMR][1000 genomes]
rs58754867	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60113282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60249619	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60548866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60617306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66473029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66519116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66751800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67119549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67176708	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67885020	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs68127593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71480714	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71480715	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71480716	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71480718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71480719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71480720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399021	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73399027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73399030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7925039	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	53 gene(s)	inside rSNPs	diseases
5	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	41 gene(s)	inside rSNPs	diseases
6	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS 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	36 gene(s)	inside rSNPs	diseases
7	nsv1054847	chr11:4642875-5200656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
8	nsv896915	chr11:4659419-4844393	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv832056	chr11:4673001-4824890	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv896916	chr11:4712353-4806872	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1038862	chr11:4758179-4807364	Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv1806557	chr11:4778433-4820481	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv1809118	chr11:4782207-4843426	Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2754427	chr11:4793549-4810364	Enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	esv2760633	chr11:4803980-4910384	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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