Variant report

Variant	rs73934401
Chromosome Location	chr19:56151715-56151716
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:209)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:209 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56151392-56153019	A549	lung:	n/a	n/a
2	MAX	chr19:56151221-56155795	A549	lung:	n/a	chr19:56155426-56155435 chr19:56151539-56151548 chr19:56151539-56151549 chr19:56151539-56151549 chr19:56155425-56155436 chr19:56151538-56151549
3	POLR2A	chr19:56151273-56155759	ECC-1	luminal epithelium:	n/a	n/a
4	YY1	chr19:56151403-56151727	GM12892	blood:	n/a	n/a
5	POLR2A	chr19:56150319-56156666	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr19:56151419-56151781	GM12892	blood:	n/a	n/a
7	ZEB1	chr19:56151488-56151763	GM12878	blood:	n/a	n/a
8	NR2F2	chr19:56151491-56151855	K562	blood:	n/a	n/a
9	POLR2A	chr19:56150228-56156269	GM12891	blood:	n/a	n/a
10	MAX	chr19:56151390-56152158	H1-hESC	embryonic stem cell:	n/a	chr19:56151539-56151548 chr19:56151539-56151549 chr19:56151539-56151549 chr19:56151538-56151549
11	ETS1	chr19:56151330-56151750	K562	blood:	n/a	n/a
12	POLR2A	chr19:56150192-56156534	GM12878	blood:	n/a	n/a
13	CEBPB	chr19:56151620-56151774	K562	blood:	n/a	n/a
14	MYC	chr19:56151256-56151888	K562	blood:	n/a	chr19:56151539-56151548 chr19:56151539-56151549 chr19:56151539-56151549 chr19:56151538-56151549
15	MAFK	chr19:56151422-56151803	K562	blood:	n/a	n/a
16	USF1	chr19:56151306-56151799	SK-N-SH	brain:	n/a	chr19:56151507-56151523
17	ZNF143	chr19:56151448-56151747	K562	blood:	n/a	chr19:56151658-56151668
18	CTCF	chr19:56151377-56151814	K562	blood:	n/a	n/a
19	POLR2A	chr19:56151425-56153170	MCF-7	breast:	n/a	n/a
20	CTCF	chr19:56151419-56151745	NHEK	skin:	n/a	n/a
21	E2F6	chr19:56151236-56152544	H1-hESC	embryonic stem cell:	n/a	chr19:56152366-56152373 chr19:56152049-56152061
22	NRF1	chr19:56151325-56152381	SK-N-SH	brain:	n/a	chr19:56151647-56151656 chr19:56151645-56151659 chr19:56151645-56151656
23	TBL1XR1	chr19:56151352-56151777	K562	blood:	n/a	n/a
24	POLR2A	chr19:56151559-56152845	GM10847	blood:	n/a	n/a
25	HMGN3	chr19:56151360-56152899	K562	blood:	n/a	n/a
26	POLR2A	chr19:56151627-56153074	HepG2	liver:	n/a	n/a
27	CHD2	chr19:56151532-56155316	Hela-S3	cervix:	n/a	chr19:56154963-56154973 chr19:56152366-56152373
28	POLR2A	chr19:56151715-56153148	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr19:56149778-56157300	PANC-1	pancreas:	n/a	n/a
30	CTCF	chr19:56151493-56151743	GM10266	blood:	n/a	n/a
31	ZNF384	chr19:56151405-56151865	K562	blood:	n/a	n/a
32	CTCF	chr19:56151478-56151715	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:56151443-56152984	HepG2	liver:	n/a	n/a
34	CHD2	chr19:56151397-56152507	K562	blood:	n/a	chr19:56152366-56152373
35	TRIM28	chr19:56151205-56151742	K562	blood:	n/a	n/a
36	MAZ	chr19:56151386-56153256	K562	blood:	n/a	chr19:56151539-56151548 chr19:56151539-56151549 chr19:56151539-56151549 chr19:56151538-56151549
37	CTCF	chr19:56151422-56151762	GM19238	blood:	n/a	n/a
38	POLR2A	chr19:56150010-56156634	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr19:56151299-56155891	MCF-7	breast:	n/a	n/a
40	E2F6	chr19:56151278-56152605	K562	blood:	n/a	chr19:56152366-56152373 chr19:56152049-56152061
41	GABPA	chr19:56151357-56152945	K562	blood:	n/a	chr19:56151647-56151656 chr19:56151645-56151659 chr19:56151645-56151656
42	CTCF	chr19:56151482-56151736	Medullo	brain:	n/a	n/a
43	HDAC2	chr19:56151379-56151735	K562	blood:	n/a	n/a
44	STAT5A	chr19:56151685-56152634	GM12878	blood:	n/a	chr19:56151811-56151818 chr19:56151740-56151752
45	POLR2A	chr19:56151171-56152126	GM12892	blood:	n/a	n/a
46	POLR2A	chr19:56151264-56153383	K562	blood:	n/a	n/a
47	POLR2A	chr19:56151325-56156943	GM19099	blood:	n/a	n/a
48	POLR2A	chr19:56150270-56155844	PANC-1	pancreas:	n/a	n/a
49	CTCF	chr19:56151391-56151805	K562	blood:	n/a	n/a
50	POLR2A	chr19:56151135-56153336	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56151707-56151757	HIPEpiC	eye:	n/a
2	chr19:56151707-56151757	IMR90	lung:	fetal
3	chr19:56151707-56151757	Hela-S3	cervix:	n/a
4	chr19:56151707-56151757	K562	blood:	n/a
5	chr19:56151707-56151757	NH-A	brain:	n/a
6	chr19:56151707-56151757	HepG2	liver:	n/a
7	chr19:56151707-56151757	Jurkat	blood:	n/a
8	chr19:56151707-56151757	AG09319	gingival:	n/a
9	chr19:56151707-56151757	ProgFib	skin:	n/a
10	chr19:56151707-56151757	HNPCEpiC	eye:	n/a
11	chr19:56151707-56151757	HRCEpiC	kidney:	n/a
12	chr19:56151707-56151757	SK-N-SH_RA	brain:	n/a
13	chr19:56151707-56151757	HCM	heart:	n/a
14	chr19:56151707-56151757	GM12892	blood:	n/a
15	chr19:56151707-56151757	AG09309	skin:	n/a
16	chr19:56151707-56151757	HCPEpiC	choroid plexus:	n/a
17	chr19:56151707-56151757	ovcar-3	ovarian:	n/a
18	chr19:56151707-56151757	HPAEpiC	pulmonary alveolar:	n/a
19	chr19:56151707-56151757	HCF	heart:	n/a
20	chr19:56151707-56151757	PrEC	prostate:	n/a
21	chr19:56151707-56151757	GM12878	blood:	n/a
22	chr19:56151707-56151757	T-47D	breast:	n/a
23	chr19:56151707-56151757	GM12891	blood:	n/a
24	chr19:56151707-56151757	H1-hESC	embryonic stem cell:	embryo
25	chr19:56151707-56151757	HRE	kidney:	n/a
26	chr19:56151707-56151757	NB4	blood:	n/a
27	chr19:56151707-56151757	HRPEpiC	eye:	n/a
28	chr19:56151707-56151757	NHDF-neo	bronchial:	n/a
29	chr19:56151707-56151757	SKMC	muscle:	n/a
30	chr19:56151707-56151757	PFSK-1	brain:	n/a
31	chr19:56151707-56151757	SK-N-MC	brain:	n/a
32	chr19:56151707-56151757	NT2-D1	testis:	n/a
33	chr19:56151707-56151757	MCF10A-Er-Src	breast:	n/a
34	chr19:56151707-56151757	BE2_C	brain:	n/a
35	chr19:56151707-56151757	HMEC	breast:	n/a
36	chr19:56151707-56151757	AG04450	lung:	fetal
37	chr19:56151707-56151757	U87	brain:	n/a
38	chr19:56151707-56151757	SK-N-SH	brain:	n/a
39	chr19:56151707-56151757	HEEpiC	esophagus:	n/a
40	chr19:56151707-56151757	MCF-7	breast:	n/a
41	chr19:56151707-56151757	AoSMC	blood vessel:	n/a
42	chr19:56151707-56151757	SAEC	small airway:	n/a
43	chr19:56151707-56151757	BJ	skin:	n/a
44	chr19:56151707-56151757	AG10803	skin:	n/a
45	chr19:56151707-56151757	NHBE	bronchial:	n/a
46	chr19:56151707-56151757	Caco-2	colon:	n/a
47	chr19:56151707-56151757	LNCaP	prostate:	n/a
48	chr19:56151707-56151757	GM06990	blood:	n/a
49	chr19:56151707-56151757	AG04449	skin:	fetal
50	chr19:56151707-56151757	A549	lung:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55994990..55999125-chr19:56150596..56153745,4	K562	blood:
2	chr19:55813454..55816310-chr19:56151502..56153482,2	MCF-7	breast:
3	chr19:56107792..56111497-chr19:56151607..56154571,3	MCF-7	breast:
4	chr19:56132811..56137423-chr19:56151241..56156557,5	MCF-7	breast:
5	chr19:56111889..56113389-chr19:56150627..56153013,2	K562	blood:
6	chr19:56109576..56111086-chr19:56151064..56152602,2	K562	blood:
7	chr19:55626366..55629144-chr19:56151698..56154505,2	MCF-7	breast:
8	chr19:56133203..56138391-chr19:56150309..56156340,8	K562	blood:
9	chr19:56143043..56143692-chr19:56151602..56152128,2	K562	blood:
10	chr19:56109287..56112853-chr19:56149861..56154883,7	MCF-7	breast:
11	chr19:56086664..56089219-chr19:56150784..56152646,2	MCF-7	breast:
12	chr19:55627842..55630893-chr19:56150877..56153462,3	MCF-7	breast:
13	chr19:54973325..54975898-chr19:56151644..56153909,2	MCF-7	breast:
14	chr19:56115086..56118069-chr19:56150430..56156112,7	MCF-7	breast:
15	chr19:55917594..55920802-chr19:56150613..56153734,3	K562	blood:
16	chr19:56135345..56138507-chr19:56147845..56151809,4	K562	blood:

No data

Variant related genes	Relation type
ZNF581	TF binding region
ZNF580	TF binding region
CCDC106	TF binding region
CCDC106	CpG island
ZNF581	CpG island
ZNF580	CpG island
ENSG00000182909	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000267730	Chromatin interaction
ENSG00000179922	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000090971	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56115240	1.00[AMR][1000 genomes]
rs56250101	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56331023	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61736526	1.00[AMR][1000 genomes]
rs73933303	1.00[AMR][1000 genomes]
rs73933306	1.00[AMR][1000 genomes]
rs73933307	1.00[AMR][1000 genomes]
rs73933308	1.00[AMR][1000 genomes]
rs73934402	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936310	1.00[AMR][1000 genomes]
rs73936311	1.00[AMR][1000 genomes]
rs73936315	1.00[AMR][1000 genomes]
rs73936316	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
6	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
8	nsv912503	chr19:56149077-56162776	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
9	nsv912504	chr19:56149077-56170415	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56147800-56151800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:56147800-56151800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr19:56148200-56151800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:56148200-56151800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:56149200-56151800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr19:56149400-56151800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:56150200-56151800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:56150200-56151800	Enhancers	Primary B cells from peripheral blood	blood
9	chr19:56150200-56151800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr19:56150200-56151800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:56150200-56151800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:56150200-56151800	Enhancers	Fetal Thymus	thymus
13	chr19:56150400-56151800	Enhancers	Fetal Brain Male	brain
14	chr19:56150400-56152200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr19:56150400-56152400	Enhancers	Spleen	Spleen
16	chr19:56150600-56151800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:56150600-56151800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:56150600-56151800	Enhancers	Placenta	Placenta
19	chr19:56150600-56151800	Enhancers	Lung	lung
20	chr19:56150800-56151800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr19:56150800-56152200	Flanking Active TSS	GM12878-XiMat	blood
22	chr19:56151000-56151800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr19:56151200-56151800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr19:56151200-56151800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr19:56151200-56151800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:56151200-56151800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr19:56151200-56152000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:56151200-56152000	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr19:56151200-56152000	Flanking Active TSS	Fetal Brain Female	brain
30	chr19:56151200-56152000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr19:56151200-56152000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr19:56151200-56152000	Flanking Active TSS	Hela-S3	cervix
33	chr19:56151200-56152000	Flanking Active TSS	NH-A	brain
34	chr19:56151200-56152200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:56151200-56152200	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr19:56151200-56152200	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr19:56151200-56152200	Enhancers	Small Intestine	intestine
38	chr19:56151400-56151800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:56151400-56151800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:56151400-56151800	Enhancers	Primary B cells from cord blood	blood
41	chr19:56151400-56151800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:56151400-56151800	Enhancers	Esophagus	oesophagus
43	chr19:56151400-56151800	Enhancers	Thymus	Thymus
44	chr19:56151400-56152000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:56151400-56152000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:56151400-56152000	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr19:56151400-56152000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:56151400-56152000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:56151400-56152000	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr19:56151400-56152000	Flanking Active TSS	Brain Hippocampus Middle	brain

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