Variant report

Variant	rs62419109
Chromosome Location	chr6:63324512-63324513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:63324480-63324630	GM12864	blood:	n/a	n/a
2	CTCF	chr6:63324493-63324626	HepG2	liver:	n/a	n/a
3	CTCF	chr6:63324415-63324613	MCF-7	breast:	n/a	n/a
4	CTCF	chr6:63324503-63324609	GM12892	blood:	n/a	n/a
5	CTCF	chr6:63324480-63324630	HRE	kidney:	n/a	n/a
6	CTCF	chr6:63324419-63324727	GM12878	blood:	n/a	n/a
7	CTCF	chr6:63324492-63324631	MCF-7	breast:	n/a	n/a
8	CTCF	chr6:63324500-63324650	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr6:63324460-63324610	GM12874	blood:	n/a	n/a
10	CTCF	chr6:63324400-63324550	K562	blood:	n/a	n/a
11	CTCF	chr6:63324440-63324590	GM12872	blood:	n/a	n/a
12	CTCF	chr6:63324480-63324630	GM12870	blood:	n/a	n/a
13	RAD21	chr6:63324314-63324724	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:63324474-63324610	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:63324460-63324610	HL-60	blood:	n/a	n/a
16	CTCF	chr6:63324480-63324630	GM12866	blood:	n/a	n/a
17	CTCF	chr6:63324500-63324650	WERI-Rb-1	eye:	n/a	n/a
18	CTCF	chr6:63324500-63324650	HEK293	kidney:	n/a	n/a
19	RAD21	chr6:63324372-63324753	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr6:63324320-63324590	GM12865	blood:	n/a	n/a
21	CTCF	chr6:63324460-63324610	GM12875	blood:	n/a	n/a
22	CTCF	chr6:63324480-63324630	GM12873	blood:	n/a	n/a
23	RAD21	chr6:63324424-63324679	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr6:63324460-63324610	HepG2	liver:	n/a	n/a
25	RAD21	chr6:63324467-63324689	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr6:63324480-63324630	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr6:63324500-63324650	GM12872	blood:	n/a	n/a
28	CTCF	chr6:63324460-63324610	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr6:63324440-63324590	GM12869	blood:	n/a	n/a
30	RAD21	chr6:63324466-63324636	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr6:63324460-63324610	NB4	blood:	n/a	n/a
32	CTCF	chr6:63324460-63324610	GM12871	blood:	n/a	n/a
33	CTCF	chr6:63324440-63324590	GM12864	blood:	n/a	n/a
34	CTCF	chr6:63324440-63324590	MCF-7	breast:	n/a	n/a
35	CTCF	chr6:63324460-63324610	GM12872	blood:	n/a	n/a
36	CTCF	chr6:63324488-63324626	GM19238	blood:	n/a	n/a
37	CTCF	chr6:63324400-63324550	BE2_C	brain:	n/a	n/a
38	CTCF	chr6:63324480-63324630	HEK293	kidney:	n/a	n/a
39	CTCF	chr6:63324481-63324637	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr6:63324480-63324630	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr6:63324460-63324610	HRE	kidney:	n/a	n/a
42	CTCF	chr6:63324480-63324630	GM12868	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000262566	TF binding region

Extended variants
information (count: 165 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs10943102	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11756394	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12176521	0.86[EUR][1000 genomes]
rs1856123	0.82[ASN][1000 genomes]
rs2104020	0.82[ASN][1000 genomes]
rs2104021	0.82[ASN][1000 genomes]
rs2180708	0.82[ASN][1000 genomes]
rs2752970	0.82[ASN][1000 genomes]
rs2752971	0.82[ASN][1000 genomes]
rs2752992	0.82[ASN][1000 genomes]
rs2752993	0.82[ASN][1000 genomes]
rs2752997	0.82[ASN][1000 genomes]
rs2752999	0.82[ASN][1000 genomes]
rs2753015	0.82[ASN][1000 genomes]
rs2753016	0.82[ASN][1000 genomes]
rs2753017	0.82[ASN][1000 genomes]
rs2753018	0.82[ASN][1000 genomes]
rs2753019	0.82[ASN][1000 genomes]
rs2753020	0.82[ASN][1000 genomes]
rs2753021	0.82[ASN][1000 genomes]
rs2753027	0.82[ASN][1000 genomes]
rs2753034	0.82[ASN][1000 genomes]
rs2753035	0.82[ASN][1000 genomes]
rs2753036	0.82[ASN][1000 genomes]
rs2753037	0.82[ASN][1000 genomes]
rs2753038	0.82[ASN][1000 genomes]
rs2753040	0.82[ASN][1000 genomes]
rs2782374	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2782377	0.93[EUR][1000 genomes]
rs2782378	0.89[EUR][1000 genomes]
rs2782380	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2782381	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2782382	0.93[EUR][1000 genomes]
rs2782383	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2786207	0.82[ASN][1000 genomes]
rs2786208	0.82[ASN][1000 genomes]
rs2786212	0.82[ASN][1000 genomes]
rs2843030	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2843031	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2843033	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2843034	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2843035	0.93[EUR][1000 genomes]
rs2843036	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2843037	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2843039	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2843072	0.82[ASN][1000 genomes]
rs2843093	0.82[ASN][1000 genomes]
rs2843094	0.82[ASN][1000 genomes]
rs2843108	0.82[ASN][1000 genomes]
rs2843109	0.82[ASN][1000 genomes]
rs2843110	0.82[ASN][1000 genomes]
rs2843114	0.82[ASN][1000 genomes]
rs2843125	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36086878	0.82[ASN][1000 genomes]
rs4395706	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4407697	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4422597	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4501408	0.89[EUR][1000 genomes]
rs4533972	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4577772	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4605864	0.86[EUR][1000 genomes]
rs4610542	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4618502	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4710364	0.82[ASN][1000 genomes]
rs56194914	0.82[ASN][1000 genomes]
rs62417165	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62417167	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62417168	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62417223	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62418213	0.81[AMR][1000 genomes]
rs62418216	0.81[AMR][1000 genomes]
rs62418218	0.81[AMR][1000 genomes]
rs62418256	0.81[AMR][1000 genomes]
rs62418257	0.81[AMR][1000 genomes]
rs62418258	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62418259	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419062	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419063	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419096	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419097	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62419110	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419111	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419112	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419113	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62419114	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419115	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419116	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453757	0.82[ASN][1000 genomes]
rs6903488	0.82[ASN][1000 genomes]
rs6903547	0.82[ASN][1000 genomes]
rs6908342	0.82[ASN][1000 genomes]
rs6912705	0.82[ASN][1000 genomes]
rs6915974	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6918509	0.82[ASN][1000 genomes]
rs6920681	0.82[ASN][1000 genomes]
rs6923059	0.82[ASN][1000 genomes]
rs6924633	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927290	0.82[ASN][1000 genomes]
rs6928483	0.82[ASN][1000 genomes]
rs6932304	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6934076	0.82[ASN][1000 genomes]
rs6935062	0.82[ASN][1000 genomes]
rs6936086	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6938635	0.82[ASN][1000 genomes]
rs6938996	0.82[ASN][1000 genomes]
rs6939707	0.82[ASN][1000 genomes]
rs6941041	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6941418	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73493565	0.82[ASN][1000 genomes]
rs73493571	0.82[ASN][1000 genomes]
rs73493573	0.82[ASN][1000 genomes]
rs73759617	0.82[ASN][1000 genomes]
rs7747153	0.82[ASN][1000 genomes]
rs9293968	0.82[ASN][1000 genomes]
rs9341416	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9343025	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9350492	0.93[EUR][1000 genomes]
rs9351985	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9443043	0.82[ASN][1000 genomes]
rs9443044	0.82[ASN][1000 genomes]
rs9443046	0.82[ASN][1000 genomes]
rs9443050	0.82[ASN][1000 genomes]
rs9443051	0.82[ASN][1000 genomes]
rs9443052	0.82[ASN][1000 genomes]
rs9443055	0.82[ASN][1000 genomes]
rs9447203	0.82[ASN][1000 genomes]
rs9447204	0.82[ASN][1000 genomes]
rs9447213	0.82[ASN][1000 genomes]
rs9447216	0.82[ASN][1000 genomes]
rs9447218	0.82[ASN][1000 genomes]
rs9447230	0.82[ASN][1000 genomes]
rs9447234	0.82[ASN][1000 genomes]
rs9447235	0.82[ASN][1000 genomes]
rs9447243	0.82[ASN][1000 genomes]
rs9447249	0.82[ASN][1000 genomes]
rs9447250	0.82[ASN][1000 genomes]
rs9447251	0.82[ASN][1000 genomes]
rs9447253	0.82[ASN][1000 genomes]
rs9447256	0.82[ASN][1000 genomes]
rs9447257	0.82[ASN][1000 genomes]
rs9447258	0.82[ASN][1000 genomes]
rs9447260	0.82[ASN][1000 genomes]
rs9447270	0.82[ASN][1000 genomes]
rs9447272	0.82[ASN][1000 genomes]
rs9447274	0.82[ASN][1000 genomes]
rs9447279	0.82[ASN][1000 genomes]
rs957453	0.82[ASN][1000 genomes]
rs9689019	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532025	chr6:62944349-63571677	Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1029503	chr6:63033365-63698355	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv532026	chr6:63085396-63698477	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv917014	chr6:63085410-63698365	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv885967	chr6:63152724-63605221	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv885968	chr6:63199731-63585140	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019784	chr6:63211479-63348695	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv885969	chr6:63223191-63496191	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv885970	chr6:63241352-63496191	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv885971	chr6:63241352-63605221	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv885972	chr6:63241352-63615339	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv885973	chr6:63241352-63630759	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv885974	chr6:63241352-63672200	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1031787	chr6:63273240-63370651	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1019831	chr6:63279677-64230736	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv603352	chr6:63286366-63596112	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv885975	chr6:63309588-63585140	Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:63322400-63325400	Weak transcription	Stomach Mucosa	stomach
2	chr6:63323200-63324800	ZNF genes & repeats	Fetal Intestine Small	intestine
3	chr6:63324000-63327800	Enhancers	Fetal Intestine Large	intestine
4	chr6:63324400-63326000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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