Variant report

Variant	rs563331425
Chromosome Location	chr19:43139228-43139229
allele	C/T
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	chr19:43139200-43139350	GM12874	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
2	CTCF	chr19:43139180-43139330	HBMEC	blood vessel:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
3	CTCF	chr19:43139097-43139377	HepG2	liver:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
4	CTCF	chr19:43139200-43139350	NHDF-neo	bronchial:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
5	CTCF	chr19:43139200-43139350	GM12878	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
6	CTCF	chr19:43139200-43139350	GM12866	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
7	CTCF	chr19:43139126-43139447	GM19240	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
8	BHLHE40	chr19:43139176-43139401	K562	blood:	n/a	n/a
9	CTCF	chr19:43139100-43139250	NHDF-neo	bronchial:	n/a	n/a
10	MAZ	chr19:43138995-43139565	IMR90	lung:	n/a	n/a
11	HCFC1	chr19:43139216-43139368	K562	blood:	n/a	n/a
12	CTCF	chr19:43139133-43139345	T-47D	breast:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
13	CTCF	chr19:43139140-43139400	HepG2	liver:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
14	CTCF	chr19:43139200-43139350	HFF	foreskin:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
15	SMC3	chr19:43139130-43139448	GM12878	blood:	n/a	chr19:43139259-43139273
16	CTCF	chr19:43139180-43139330	GM12868	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
17	CTCF	chr19:43139160-43139310	HCT-116	colon:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
18	RAD21	chr19:43139128-43139418	SK-N-SH_RA	brain:	n/a	chr19:43139262-43139271 chr19:43139261-43139274 chr19:43139258-43139277 chr19:43139260-43139267
19	CTCF	chr19:43139200-43139350	GM12871	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
20	MYC	chr19:43139155-43139420	K562	blood:	n/a	n/a
21	CTCF	chr19:43139160-43139310	A549	lung:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
22	RAD21	chr19:43139134-43139563	MCF-7	breast:	n/a	chr19:43139262-43139271 chr19:43139261-43139274 chr19:43139258-43139277 chr19:43139260-43139267
23	CTCF	chr19:43139113-43139437	K562	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
24	CTCF	chr19:43139200-43139350	GM12875	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
25	CTCF	chr19:43139114-43139409	NHEK	skin:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
26	CTCF	chr19:43139220-43139370	SAEC	small airway:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
27	RAD21	chr19:43138964-43139594	HCT-116	colon:	n/a	chr19:43139262-43139271 chr19:43139261-43139274 chr19:43139258-43139277 chr19:43139260-43139267
28	CTCF	chr19:43139160-43139310	GM12871	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
29	MAFK	chr19:43139178-43139439	Hela-S3	cervix:	n/a	n/a
30	RAD21	chr19:43139138-43139455	GM12878	blood:	n/a	chr19:43139262-43139271 chr19:43139261-43139274 chr19:43139258-43139277 chr19:43139260-43139267
31	CTCF	chr19:43139155-43139369	GM13977	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
32	CTCF	chr19:43139200-43139350	AG09319	gingival:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
33	CTCF	chr19:43139180-43139330	HPF	lung:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
34	CTCF	chr19:43139180-43139330	AG10803	skin:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
35	CTCF	chr19:43139180-43139330	GM12878	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
36	CTCF	chr19:43139180-43139330	Hela-S3	cervix:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
37	CTCF	chr19:43139146-43139373	MCF-7	breast:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
38	ZNF143	chr19:43139091-43139428	K562	blood:	n/a	n/a
39	RAD21	chr19:43139024-43139462	H1-hESC	embryonic stem cell:	n/a	chr19:43139262-43139271 chr19:43139261-43139274 chr19:43139258-43139277 chr19:43139260-43139267
40	CTCF	chr19:43139220-43139370	HVMF	connective:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
41	YY1	chr19:43139026-43139628	A549	lung:	n/a	n/a
42	CTCF	chr19:43139134-43139375	HepG2	liver:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
43	CTCF	chr19:43138873-43139584	HCT-116	colon:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
44	CTCF	chr19:43139160-43139310	RPTEC	kidney:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
45	CTCF	chr19:43139144-43139378	GM10248	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
46	CTCF	chr19:43139180-43139330	AoAF	blood vessel:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
47	YY1	chr19:43139181-43139338	HCT-116	colon:	n/a	n/a
48	CTCF	chr19:43139117-43139401	K562	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
49	CTCF	chr19:43139180-43139330	HCFaa	heart:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
50	CTCF	chr19:43139220-43139370	HCM	heart:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275

No.	Distal block	Cell Line	Cell type
1	chr19:43139185..43139985-chr19:43166999..43167914,2	MCF-7	breast:
2	chr19:43138891..43139734-chr19:43166436..43166942,2	MCF-7	breast:
3	chr19:43139154..43139986-chr19:43246322..43246897,2	MCF-7	breast:

Variant related genes	Relation type
CEACAMP1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482597	chr19:43037214-43222644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758501	chr19:43042747-43899053	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2758763	chr19:43042747-43899053	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv428023	chr19:43042747-43899053	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2422227	chr19:43059426-43669485	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv1064734	chr19:43076046-43182478	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1058936	chr19:43082848-43228161	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3368556	chr19:43121424-43180449	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv978897	chr19:43137733-43151377	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1063042	chr19:43139043-43175294	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1056270	chr19:43139043-43542819	Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43139000-43139600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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