Variant report

Variant	rs73045046
Chromosome Location	chr19:42150585-42150586
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	chr19:42150580-42150730	WERI-Rb-1	eye:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
2	CEBPB	chr19:42150556-42150769	K562	blood:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
3	CTCF	chr19:42150580-42150730	HepG2	liver:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
4	CTCF	chr19:42150569-42150877	K562	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
5	CTCF	chr19:42150580-42150730	GM06990	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
6	CTCF	chr19:42150550-42150875	K562	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
7	CTCF	chr19:42150573-42150816	MCF-7	breast:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
8	CTCF	chr19:42150562-42150804	H1-hESC	embryonic stem cell:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
9	CTCF	chr19:42150500-42150650	NHDF-neo	bronchial:	n/a	n/a
10	CTCF	chr19:42150572-42150810	GM19240	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
11	CTCF	chr19:42150574-42150855	H1-hESC	embryonic stem cell:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
12	CEBPB	chr19:42150425-42150804	A549	lung:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
13	CTCF	chr19:42150535-42150870	A549	lung:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
14	MYC	chr19:42150560-42150763	K562	blood:	n/a	chr19:42150686-42150693
15	CTCF	chr19:42150580-42150730	SAEC	small airway:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
16	MAX	chr19:42150581-42150800	NB4	blood:	n/a	chr19:42150686-42150693
17	MAX	chr19:42150491-42150932	MCF-7	breast:	n/a	chr19:42150686-42150693
18	CTCF	chr19:42150564-42150782	IMR90	lung:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
19	CEBPB	chr19:42150582-42150748	IMR90	lung:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
20	CTCF	chr19:42150573-42150812	GM12891	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
21	CTCF	chr19:42150584-42150810	MCF-7	breast:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
22	CEBPB	chr19:42150504-42150794	K562	blood:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
23	CTCF	chr19:42150460-42150610	HVMF	connective:	n/a	n/a
24	MAX	chr19:42150513-42150880	K562	blood:	n/a	chr19:42150686-42150693
25	CTCF	chr19:42150555-42150949	K562	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
26	CTCF	chr19:42150585-42150787	MCF-7	breast:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
27	CTCF	chr19:42150539-42150863	A549	lung:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
28	CTCF	chr19:42150580-42150730	GM12875	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
29	CEBPB	chr19:42150453-42150761	MCF-7	breast:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
30	CTCF	chr19:42150577-42150751	HepG2	liver:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
31	CTCF	chr19:42150540-42150690	AG04450	lung:	n/a	n/a
32	CTCF	chr19:42150580-42150730	GM12865	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
33	CTCF	chr19:42150473-42151038	HCT-116	colon:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
34	CTCF	chr19:42150580-42150730	GM12864	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
35	CTCF	chr19:42150577-42150809	GM12878	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
36	CTCF	chr19:42150580-42150730	GM12873	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
37	CTCF	chr19:42150569-42150889	K562	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
38	CTCF	chr19:42150556-42150816	K562	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
39	MAX	chr19:42150470-42150832	HCT-116	colon:	n/a	chr19:42150686-42150693
40	CTCF	chr19:42150574-42150804	MCF-7	breast:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
41	CTCF	chr19:42150580-42150730	NHEK	skin:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
42	CTCF	chr19:42150580-42150730	Caco-2	colon:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
43	CTCF	chr19:42150480-42150630	HAc	cerebellar:	n/a	n/a
44	CTCF	chr19:42150580-42150730	GM12872	blood:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
45	CTCF	chr19:42150332-42151204	A549	lung:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
46	CTCF	chr19:42150500-42150650	WI-38	lung:	n/a	n/a
47	CTCF	chr19:42150500-42150650	NHLF	lung:	n/a	n/a
48	ELF1	chr19:42150585-42150816	K562	blood:	n/a	n/a
49	CTCF	chr19:42150580-42150730	A549	lung:	n/a	chr19:42150702-42150715 chr19:42150700-42150718 chr19:42150703-42150713 chr19:42150695-42150716 chr19:42150701-42150717 chr19:42150706-42150715 chr19:42150702-42150715
50	CTCF	chr19:42150520-42150670	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000269354	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12459934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12460733	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12460742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12461373	0.91[EUR][1000 genomes]
rs12979109	0.91[EUR][1000 genomes]
rs2109072	0.83[EUR][1000 genomes]
rs3928915	0.85[EUR][1000 genomes]
rs3928918	0.84[EUR][1000 genomes]
rs3928919	0.84[EUR][1000 genomes]
rs55973747	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7250222	0.84[EUR][1000 genomes]
rs7256597	0.83[EUR][1000 genomes]
rs7257962	0.83[EUR][1000 genomes]

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	nsv1057624	chr19:42057334-42152828	Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1058847	chr19:42057334-42172442	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1063241	chr19:42057334-42175160	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv519408	chr19:42066279-42171906	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3422975	chr19:42106166-42212774	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42146200-42152600	Weak transcription	Esophagus	oesophagus
2	chr19:42150400-42150600	Enhancers	Monocytes-CD14+_RO01746	blood

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