Variant report

Variant	rs147752199
Chromosome Location	chr19:43139028-43139029
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	MAZ	chr19:43138995-43139565	IMR90	lung:	n/a	n/a
2	RAD21	chr19:43138964-43139594	HCT-116	colon:	n/a	chr19:43139262-43139271 chr19:43139261-43139274 chr19:43139258-43139277 chr19:43139260-43139267
3	CTCF	chr19:43138900-43139050	GM12872	blood:	n/a	n/a
4	RAD21	chr19:43139024-43139462	H1-hESC	embryonic stem cell:	n/a	chr19:43139262-43139271 chr19:43139261-43139274 chr19:43139258-43139277 chr19:43139260-43139267
5	YY1	chr19:43139026-43139628	A549	lung:	n/a	n/a
6	CTCF	chr19:43138873-43139584	HCT-116	colon:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
7	CTCF	chr19:43138945-43139393	GM19239	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
8	CTCF	chr19:43138925-43139430	GM12892	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
9	BHLHE40	chr19:43138971-43139294	HepG2	liver:	n/a	n/a
10	CTCF	chr19:43138880-43139030	GM12867	blood:	n/a	n/a
11	CTCF	chr19:43138859-43139492	SK-N-SH	brain:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
12	CTCF	chr19:43139027-43139571	K562	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
13	CTCF	chr19:43138988-43139525	MCF-7	breast:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
14	CTCF	chr19:43138880-43139030	GM12869	blood:	n/a	n/a
15	CTCF	chr19:43138909-43139067	GM12891	blood:	n/a	n/a
16	CTCF	chr19:43138926-43139404	GM19238	blood:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275
17	RAD21	chr19:43138989-43139597	HCT-116	colon:	n/a	chr19:43139262-43139271 chr19:43139261-43139274 chr19:43139258-43139277 chr19:43139260-43139267
18	CTCF	chr19:43139020-43139170	GM12870	blood:	n/a	n/a
19	RAD21	chr19:43138985-43139514	A549	lung:	n/a	chr19:43139262-43139271 chr19:43139261-43139274 chr19:43139258-43139277 chr19:43139260-43139267
20	RAD21	chr19:43138945-43139517	SK-N-SH	brain:	n/a	chr19:43139262-43139271 chr19:43139261-43139274 chr19:43139258-43139277 chr19:43139260-43139267
21	CTCF	chr19:43138109-43139994	A549	lung:	n/a	chr19:43139262-43139270 chr19:43139259-43139280 chr19:43139260-43139273 chr19:43139258-43139274 chr19:43139257-43139275 chr19:43139730-43139739 chr19:43139727-43139740
22	CTCF	chr19:43138912-43139060	GM19240	blood:	n/a	n/a
23	RAD21	chr19:43138994-43139705	A549	lung:	n/a	chr19:43139262-43139271 chr19:43139261-43139274 chr19:43139258-43139277 chr19:43139260-43139267

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:43138891..43139734-chr19:43166436..43166942,2	MCF-7	breast:

Variant related genes	Relation type
CEACAMP1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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

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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