Variant report

Variant	rs55692320
Chromosome Location	chr2:21618418-21618419
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:21618360-21618510	GM12864	blood:	n/a	chr2:21618429-21618447
2	CTCF	chr2:21618381-21618518	GM10266	blood:	n/a	chr2:21618429-21618447
3	CTCF	chr2:21618350-21618526	ProgFib	skin:	n/a	chr2:21618429-21618447
4	MAX	chr2:21618343-21618543	H1-hESC	embryonic stem cell:	n/a	chr2:21618478-21618488
5	CTCF	chr2:21618320-21618470	GM12864	blood:	n/a	chr2:21618429-21618447
6	RAD21	chr2:21618222-21618622	MCF-7	breast:	n/a	chr2:21618437-21618444
7	CTCF	chr2:21618380-21618530	HepG2	liver:	n/a	chr2:21618429-21618447
8	CTCF	chr2:21618340-21618490	HRE	kidney:	n/a	chr2:21618429-21618447
9	CTCF	chr2:21618340-21618490	HCPEpiC	choroid plexus:	n/a	chr2:21618429-21618447
10	CTCF	chr2:21618332-21618570	A549	lung:	n/a	chr2:21618429-21618447
11	CTCF	chr2:21618365-21618507	A549	lung:	n/a	chr2:21618429-21618447
12	CTCF	chr2:21618380-21618530	Hela-S3	cervix:	n/a	chr2:21618429-21618447
13	CTCF	chr2:21618400-21618550	GM12865	blood:	n/a	chr2:21618429-21618447
14	ZNF143	chr2:21618347-21618476	K562	blood:	n/a	n/a
15	CTCF	chr2:21618360-21618510	GM12865	blood:	n/a	chr2:21618429-21618447
16	CTCF	chr2:21618380-21618530	GM12869	blood:	n/a	chr2:21618429-21618447
17	CTCF	chr2:21618380-21618530	Caco-2	colon:	n/a	chr2:21618429-21618447
18	RAD21	chr2:21618306-21618575	SK-N-SH_RA	brain:	n/a	chr2:21618437-21618444
19	CTCF	chr2:21618400-21618550	NHEK	skin:	n/a	chr2:21618429-21618447
20	CTCF	chr2:21618134-21618770	A549	lung:	n/a	chr2:21618429-21618447
21	CTCF	chr2:21618332-21618563	GM12892	blood:	n/a	chr2:21618429-21618447
22	RAD21	chr2:21618346-21618495	K562	blood:	n/a	chr2:21618437-21618444
23	CTCF	chr2:21618360-21618510	GM12878	blood:	n/a	chr2:21618429-21618447
24	RAD21	chr2:21618302-21618585	SK-N-SH_RA	brain:	n/a	chr2:21618437-21618444
25	CTCF	chr2:21618320-21618470	Caco-2	colon:	n/a	chr2:21618429-21618447
26	CTCF	chr2:21618340-21618490	NB4	blood:	n/a	chr2:21618429-21618447
27	CTCF	chr2:21618360-21618510	MCF-7	breast:	n/a	chr2:21618429-21618447
28	CTCF	chr2:21618394-21618492	Medullo	brain:	n/a	chr2:21618429-21618447
29	CTCF	chr2:21618025-21618619	GM12878	blood:	n/a	chr2:21618429-21618447
30	CTCF	chr2:21618303-21618603	MCF-7	breast:	n/a	chr2:21618429-21618447
31	CTCF	chr2:21618306-21618515	H1-hESC	embryonic stem cell:	n/a	chr2:21618429-21618447
32	CTCF	chr2:21618380-21618530	HRPEpiC	eye:	n/a	chr2:21618429-21618447
33	CTCF	chr2:21618360-21618510	HAc	cerebellar:	n/a	chr2:21618429-21618447
34	CTCF	chr2:21618380-21618530	HMEC	breast:	n/a	chr2:21618429-21618447
35	CTCF	chr2:21618400-21618550	SAEC	small airway:	n/a	chr2:21618429-21618447
36	CTCF	chr2:21618320-21618551	MCF-7	breast:	n/a	chr2:21618429-21618447
37	CTCF	chr2:21618273-21618622	K562	blood:	n/a	chr2:21618429-21618447
38	CTCF	chr2:21618340-21618490	HepG2	liver:	n/a	chr2:21618429-21618447
39	CTCF	chr2:21618300-21618450	GM12867	blood:	n/a	chr2:21618429-21618447
40	MYC	chr2:21618335-21618548	HepG2	liver:	n/a	chr2:21618478-21618488
41	CTCF	chr2:21618340-21618490	GM12868	blood:	n/a	chr2:21618429-21618447
42	CTCF	chr2:21618341-21618552	NHEK	skin:	n/a	chr2:21618429-21618447
43	CTCF	chr2:21618360-21618510	HPF	lung:	n/a	chr2:21618429-21618447
44	RAD21	chr2:21618317-21618588	HepG2	liver:	n/a	chr2:21618437-21618444
45	SMC3	chr2:21618305-21618552	K562	blood:	n/a	n/a
46	RAD21	chr2:21618024-21618552	H1-hESC	embryonic stem cell:	n/a	chr2:21618437-21618444
47	CTCF	chr2:21618400-21618550	AG04450	lung:	n/a	chr2:21618429-21618447
48	CTCF	chr2:21618339-21618488	SK-N-SH_RA	brain:	n/a	chr2:21618429-21618447
49	CTCF	chr2:21618380-21618530	GM12874	blood:	n/a	chr2:21618429-21618447
50	CTCF	chr2:21618340-21618490	GM12872	blood:	n/a	chr2:21618429-21618447

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21595342..21596346-chr2:21617977..21618695,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231204	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12622330	1.00[EUR][1000 genomes]
rs12624085	1.00[EUR][1000 genomes]
rs13423484	1.00[EUR][1000 genomes]
rs13423690	1.00[EUR][1000 genomes]
rs17042410	1.00[EUR][1000 genomes]
rs17042419	1.00[EUR][1000 genomes]
rs1963369	1.00[EUR][1000 genomes]
rs2194755	1.00[EUR][1000 genomes]
rs2194758	1.00[EUR][1000 genomes]
rs2196163	1.00[EUR][1000 genomes]
rs2338025	1.00[EUR][1000 genomes]
rs55757500	1.00[EUR][1000 genomes]
rs55990751	1.00[EUR][1000 genomes]
rs56003985	1.00[EUR][1000 genomes]
rs56834904	1.00[EUR][1000 genomes]
rs58106116	1.00[EUR][1000 genomes]
rs58254111	1.00[EUR][1000 genomes]
rs58352420	1.00[EUR][1000 genomes]
rs59092457	1.00[EUR][1000 genomes]
rs6755947	1.00[EUR][1000 genomes]
rs73919233	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73919234	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73919235	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73919237	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73919239	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73919240	1.00[EUR][1000 genomes]
rs73919241	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73919242	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73919243	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73919244	1.00[EUR][1000 genomes]
rs73919245	1.00[EUR][1000 genomes]
rs73919246	1.00[EUR][1000 genomes]
rs73919247	1.00[EUR][1000 genomes]
rs73919248	1.00[EUR][1000 genomes]
rs73919249	1.00[EUR][1000 genomes]
rs73919254	1.00[EUR][1000 genomes]
rs73919256	1.00[EUR][1000 genomes]
rs73919257	1.00[EUR][1000 genomes]
rs73919259	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73919262	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73919284	1.00[EUR][1000 genomes]
rs73919287	1.00[EUR][1000 genomes]
rs73919291	1.00[EUR][1000 genomes]
rs73919294	1.00[EUR][1000 genomes]
rs73919298	1.00[EUR][1000 genomes]
rs73919302	1.00[EUR][1000 genomes]
rs73921205	1.00[EUR][1000 genomes]
rs73921206	1.00[EUR][1000 genomes]
rs73921209	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv2631	chr2:21606995-21652014	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21582000-21634600	Weak transcription	Aorta	Aorta
2	chr2:21616200-21618800	Weak transcription	Placenta Amnion	Placenta Amnion

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