Variant report

Variant	rs185573743
Chromosome Location	chr14:45833830-45833831
allele	A/G
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	chr14:45833740-45833890	WERI-Rb-1	eye:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
2	CTCF	chr14:45833700-45833850	HCT-116	colon:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
3	CTCF	chr14:45833680-45833830	HCT-116	colon:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
4	CTCF	chr14:45833700-45833850	HRPEpiC	eye:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
5	RAD21	chr14:45833591-45834024	HCT-116	colon:	n/a	chr14:45833788-45833801 chr14:45833785-45833804 chr14:45833790-45833800 chr14:45833790-45833802
6	CTCF	chr14:45833700-45833850	MCF-7	breast:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
7	CTCF	chr14:45833559-45834062	MCF-7	breast:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
8	CTCF	chr14:45833760-45833910	A549	lung:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
9	CTCF	chr14:45833697-45833927	MCF-7	breast:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
10	CTCF	chr14:45833653-45833901	H1-hESC	embryonic stem cell:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
11	CTCF	chr14:45833708-45833873	Hela-S3	cervix:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
12	CTCF	chr14:45833680-45833830	HEEpiC	esophagus:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
13	CTCF	chr14:45833737-45833861	HepG2	liver:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
14	CTCF	chr14:45833761-45833868	Gliobla	brain:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
15	RAD21	chr14:45833551-45833974	H1-hESC	embryonic stem cell:	n/a	chr14:45833788-45833801 chr14:45833785-45833804 chr14:45833790-45833800 chr14:45833790-45833802
16	CTCF	chr14:45833760-45833910	HepG2	liver:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
17	CTCF	chr14:45833750-45833903	MCF-7	breast:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
18	RAD21	chr14:45833629-45833920	H1-hESC	embryonic stem cell:	n/a	chr14:45833788-45833801 chr14:45833785-45833804 chr14:45833790-45833800 chr14:45833790-45833802
19	CTCF	chr14:45833780-45833930	HEK293	kidney:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
20	CTCF	chr14:45833720-45833870	Hela-S3	cervix:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
21	CTCF	chr14:45833722-45833865	HepG2	liver:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
22	CTCF	chr14:45833670-45833900	HCT-116	colon:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
23	CTCF	chr14:45833739-45833901	MCF-7	breast:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
24	CTCF	chr14:45833702-45833894	LNCaP	prostate:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
25	SMC3	chr14:45833783-45833868	Hela-S3	cervix:	n/a	chr14:45833786-45833800
26	CTCF	chr14:45833774-45833928	A549	lung:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
27	CTCF	chr14:45833780-45833930	Caco-2	colon:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
28	CTCF	chr14:45833675-45833933	MCF-7	breast:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
29	CTCF	chr14:45833720-45833870	HRPEpiC	eye:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
30	CTCF	chr14:45833730-45833910	MCF-7	breast:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
31	RAD21	chr14:45833636-45833973	H1-hESC	embryonic stem cell:	n/a	chr14:45833788-45833801 chr14:45833785-45833804 chr14:45833790-45833800 chr14:45833790-45833802
32	CTCF	chr14:45833708-45833895	LNCaP	prostate:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
33	CTCF	chr14:45833780-45833930	HMEC	breast:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802
34	CTCF	chr14:45833692-45834012	MCF-7	breast:	n/a	chr14:45833787-45833800 chr14:45833786-45833807 chr14:45833784-45833802

No.	Distal block	Cell Line	Cell type
1	chr14:45833828..45835787-chr14:45839702..45842192,2	K562	blood:
2	chr14:45833660..45834242-chr14:45996510..45997327,3	MCF-7	breast:
3	chr14:45827598..45829425-chr14:45832240..45834984,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260046	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv564726	chr14:45702358-45911581	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2758357	chr14:45706082-45982410	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2759987	chr14:45706082-45982410	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1052383	chr14:45753937-45834141	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1052588	chr14:45753937-46003738	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv916721	chr14:45753973-45979614	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv456281	chr14:45769358-45907992	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv564727	chr14:45769358-45907992	Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1042989	chr14:45774194-46489107	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv983777	chr14:45776402-45971817	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1044028	chr14:45793470-45943646	Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1052946	chr14:45796829-45943646	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv516970	chr14:45797782-45994633	Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv901847	chr14:45797782-46607899	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv2757567	chr14:45801705-45971282	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv1040279	chr14:45808006-46015706	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv1040813	chr14:45809124-46015706	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv20419	chr14:45821203-46020734	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv534379	chr14:45821442-45979729	Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv915851	chr14:45821559-45979614	Enhancers ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	esv3693164	chr14:45822337-46008354	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
24	esv2422164	chr14:45822337-46015718	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
25	nsv1039520	chr14:45826044-46012840	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
26	nsv1048492	chr14:45826044-46015706	Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
27	nsv1042444	chr14:45826044-46023935	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
28	nsv1043014	chr14:45826044-46024979	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
29	esv2760341	chr14:45826056-46015718	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
30	nsv442340	chr14:45826056-46015718	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
31	nsv514742	chr14:45827738-46007566	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
32	esv34429	chr14:45829229-45971282	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	esv34988	chr14:45829229-45971282	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	nsv564728	chr14:45829337-45846461	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
35	nsv1036097	chr14:45831717-45971387	Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
36	nsv542080	chr14:45831717-45971387	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
37	nsv1047118	chr14:45831717-46007820	Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
38	nsv542081	chr14:45831717-46007820	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
39	nsv1049898	chr14:45831717-46035912	Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
40	nsv542082	chr14:45831717-46035912	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45833200-45834200	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr14:45833800-45834400	Enhancers	Adipose Nuclei	Adipose
3	chr14:45833800-45834600	Enhancers	Right Atrium	heart

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