Variant report

Variant	rs555724064
Chromosome Location	chr19:42257356-42257357
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	chr19:42257220-42257370	Hela-S3	cervix:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
2	SPI1	chr19:42257049-42257461	HL-60	blood:	n/a	n/a
3	CTCF	chr19:42257220-42257370	RPTEC	kidney:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
4	CTCF	chr19:42257220-42257370	HCM	heart:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
5	CTCF	chr19:42257220-42257370	GM12867	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
6	CTCF	chr19:42257157-42257423	GM19240	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
7	CTCF	chr19:42257159-42257411	NHEK	skin:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
8	CTCF	chr19:42257163-42257408	MCF-7	breast:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
9	CTCF	chr19:42257076-42257415	H1-hESC	embryonic stem cell:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
10	CTCF	chr19:42257149-42257404	GM10266	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
11	CTCF	chr19:42257240-42257390	NHDF-neo	bronchial:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
12	CTCF	chr19:42256965-42257595	K562	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
13	RAD21	chr19:42257147-42257376	K562	blood:	n/a	chr19:42257282-42257292 chr19:42257280-42257293 chr19:42257277-42257296
14	RAD21	chr19:42257112-42257533	H1-hESC	embryonic stem cell:	n/a	chr19:42257282-42257292 chr19:42257280-42257293 chr19:42257277-42257296
15	CTCF	chr19:42257183-42257377	A549	lung:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
16	CTCF	chr19:42257052-42257438	K562	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
17	RUNX3	chr19:42257104-42257449	GM12878	blood:	n/a	n/a
18	CTCF	chr19:42257146-42257413	GM19238	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
19	CTCF	chr19:42257220-42257370	GM12864	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
20	CTCF	chr19:42257168-42257398	T-47D	breast:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
21	MAX	chr19:42257252-42257370	NB4	blood:	n/a	n/a
22	CTCF	chr19:42257240-42257390	GM12869	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
23	CTCF	chr19:42255195-42260167	A549	lung:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
24	CTCF	chr19:42257220-42257370	GM12873	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
25	CTCF	chr19:42256884-42257570	SK-N-SH	brain:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
26	CTCF	chr19:42257172-42257388	Pancreas_OC	pancreas:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
27	CTCF	chr19:42257143-42257412	Gliobla	brain:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
28	RAD21	chr19:42257127-42257362	GM12878	blood:	n/a	chr19:42257282-42257292 chr19:42257280-42257293 chr19:42257277-42257296
29	CTCF	chr19:42257220-42257370	HPAF	blood vessel:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
30	CTCF	chr19:42257182-42257382	GM20000	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
31	CTCF	chr19:42257159-42257418	GM13977	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
32	CTCF	chr19:42257171-42257377	HepG2	liver:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
33	RAD21	chr19:42257050-42257445	MCF-7	breast:	n/a	chr19:42257282-42257292 chr19:42257280-42257293 chr19:42257277-42257296
34	CTCF	chr19:42257260-42257410	K562	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
35	CTCF	chr19:42257173-42257402	GM19239	blood:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
36	RAD21	chr19:42257012-42257505	HCT-116	colon:	n/a	chr19:42257282-42257292 chr19:42257280-42257293 chr19:42257277-42257296
37	CTCF	chr19:42257111-42257456	IMR90	lung:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
38	SMC3	chr19:42257107-42257446	K562	blood:	n/a	chr19:42257278-42257292 chr19:42257282-42257292
39	CTCF	chr19:42257044-42257458	HepG2	liver:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
40	CTCF	chr19:42257064-42257442	H1-hESC	embryonic stem cell:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
41	CTCF	chr19:42257040-42257442	MCF-7	breast:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
42	RAD21	chr19:42257040-42257437	MCF-7	breast:	n/a	chr19:42257282-42257292 chr19:42257280-42257293 chr19:42257277-42257296
43	CTCF	chr19:42257220-42257370	HFF-Myc	foreskin:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
44	MAZ	chr19:42257129-42257357	K562	blood:	n/a	n/a
45	CTCF	chr19:42257114-42257401	ECC-1	luminal epithelium:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
46	CTCF	chr19:42257220-42257370	HBMEC	blood vessel:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
47	CTCF	chr19:42257056-42257493	T-47D	breast:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
48	CTCF	chr19:42257118-42257397	HUVEC	blood vessel:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
49	CTCF	chr19:42257044-42257442	HCT-116	colon:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293
50	CTCF	chr19:42257220-42257370	AG09319	gingival:	n/a	chr19:42257276-42257294 chr19:42257278-42257299 chr19:42257279-42257292 chr19:42257279-42257288 chr19:42257281-42257291 chr19:42257279-42257292 chr19:42257277-42257293

No.	Distal block	Cell Line	Cell type
1	chr19:42256878..42257460-chr19:42288323..42288994,2	MCF-7	breast:
2	chr19:42214835..42216861-chr19:42256777..42258757,2	MCF-7	breast:
3	chr19:42210733..42211670-chr19:42256878..42258361,4	K562	blood:
4	chr19:42256872..42257731-chr19:42277925..42278830,2	MCF-7	breast:
5	chr19:42254797..42261680-chr19:42284783..42292674,12	MCF-7	breast:
6	chr19:42256268..42257789-chr19:42259874..42261531,2	MCF-7	breast:
7	chr19:42256816..42257733-chr19:42462027..42462557,2	K562	blood:
8	chr19:42255651..42257648-chr19:42288124..42290756,2	MCF-7	breast:
9	chr19:42256322..42257851-chr19:42324890..42325806,7	K562	blood:
10	chr19:42256392..42258478-chr19:42289082..42290564,19	MCF-7	breast:

Variant related genes	Relation type
CEACAM6	TF binding region
ENSG00000268833	Chromatin interaction
ENSG00000007306	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	esv3425986	chr19:42212540-42259719	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv579615	chr19:42221434-42310388	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3430577	chr19:42247653-42285973	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv911774	chr19:42250325-42288821	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3384883	chr19:42253458-42288853	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3319044	chr19:42257039-42297123	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3319045	chr19:42257039-42297123	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42254400-42260200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr19:42254600-42258000	Enhancers	Stomach Mucosa	stomach
3	chr19:42254800-42259200	Weak transcription	Fetal Intestine Small	intestine
4	chr19:42255200-42259000	Weak transcription	Colonic Mucosa	Colon
5	chr19:42255400-42257600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:42255400-42259200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr19:42255800-42259000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr19:42256400-42258400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr19:42256800-42257800	Weak transcription	Pancreas	Pancrea
10	chr19:42257000-42258200	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:42257000-42259200	Weak transcription	Esophagus	oesophagus
12	chr19:42257200-42257600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:42257200-42258000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr19:42257200-42258000	Enhancers	Primary T helper cells fromperipheralblood	blood

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