Variant report

Variant	rs73936316
Chromosome Location	chr19:56187920-56187921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr19:56187829-56188012	K562	blood:	n/a	n/a
2	NFIC	chr19:56187726-56188261	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr19:56187820-56187970	AoAF	blood vessel:	n/a	n/a
4	FOS	chr19:56187844-56188108	MCF10A-Er-Src	breast:	n/a	n/a
5	CTCF	chr19:56187804-56188004	GM12878	blood:	n/a	n/a
6	CTCF	chr19:56187816-56188011	HUVEC	blood vessel:	n/a	n/a
7	CUX1	chr19:56187820-56188018	K562	blood:	n/a	n/a
8	CTCF	chr19:56187840-56187990	HMF	breast:	n/a	n/a
9	CTCF	chr19:56187840-56187990	GM12875	blood:	n/a	n/a
10	CTCF	chr19:56187788-56188067	IMR90	lung:	n/a	n/a
11	CTCF	chr19:56187840-56187990	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr19:56187840-56187990	HCPEpiC	choroid plexus:	n/a	n/a
13	ZC3H11A	chr19:56187914-56187970	K562	blood:	n/a	n/a
14	CTCF	chr19:56187835-56188023	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr19:56187840-56187990	HL-60	blood:	n/a	n/a
16	CTCF	chr19:56187871-56187983	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr19:56187820-56187970	AG10803	skin:	n/a	n/a
18	CTCF	chr19:56187860-56188010	RPTEC	kidney:	n/a	n/a
19	CTCF	chr19:56187840-56187990	AG10803	skin:	n/a	n/a
20	CTCF	chr19:56187920-56188070	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr19:56187840-56187990	GM06990	blood:	n/a	n/a
22	TAL1	chr19:56187810-56187986	K562	blood:	n/a	n/a
23	CTCF	chr19:56187780-56187930	HCM	heart:	n/a	n/a
24	EP300	chr19:56187828-56188028	K562	blood:	n/a	n/a
25	CTCF	chr19:56187838-56188020	LNCaP	prostate:	n/a	n/a
26	CTCF	chr19:56187860-56188010	HCFaa	heart:	n/a	n/a
27	CTCF	chr19:56187811-56188052	LNCaP	prostate:	n/a	n/a
28	CTCF	chr19:56187892-56187970	GM12878	blood:	n/a	n/a
29	CTCF	chr19:56187840-56187990	HMEC	breast:	n/a	n/a
30	WRNIP1	chr19:56187896-56190180	GM12878	blood:	n/a	n/a
31	BHLHE40	chr19:56187880-56187952	K562	blood:	n/a	n/a
32	SMC3	chr19:56187783-56187981	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr19:56187800-56187950	GM12873	blood:	n/a	n/a
34	CTCF	chr19:56187800-56187950	AG04450	lung:	n/a	n/a
35	CTCF	chr19:56187794-56187994	K562	blood:	n/a	n/a
36	CTCF	chr19:56187840-56187990	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr19:56187780-56187930	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr19:56187880-56188030	GM06990	blood:	n/a	n/a
39	ARID3A	chr19:56187812-56188011	K562	blood:	n/a	n/a
40	CTCF	chr19:56187840-56187990	HCT-116	colon:	n/a	n/a
41	CTCF	chr19:56187840-56187990	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr19:56187840-56187990	BE2_C	brain:	n/a	n/a
43	CTCF	chr19:56187820-56187970	NHEK	skin:	n/a	n/a
44	MXI1	chr19:56185791-56188335	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr19:56187920-56188070	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr19:56187892-56187924	GM13977	blood:	n/a	n/a
47	POLR2A	chr19:56187697-56188402	PANC-1	pancreas:	n/a	n/a
48	CTCF	chr19:56187860-56188010	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr19:56187860-56188010	SAEC	small airway:	n/a	n/a
50	CTCF	chr19:56187900-56188050	HEK293	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56187915-56187965	HIPEpiC	eye:	n/a
2	chr19:56187915-56187965	U87	brain:	n/a
3	chr19:56187915-56187965	BE2_C	brain:	n/a
4	chr19:56187915-56187965	ECC-1	luminal epithelium:	n/a
5	chr19:56187915-56187965	GM19239	blood:	n/a
6	chr19:56187915-56187965	HEK293	kidney:	embryo
7	chr19:56187915-56187965	HCPEpiC	choroid plexus:	n/a
8	chr19:56187915-56187965	HepG2	liver:	n/a
9	chr19:56187915-56187965	HEEpiC	esophagus:	n/a
10	chr19:56187915-56187965	GM12878	blood:	n/a
11	chr19:56187915-56187965	GM06990	blood:	n/a
12	chr19:56187915-56187965	H1-hESC	embryonic stem cell:	embryo
13	chr19:56187915-56187965	CMK	blood:	n/a
14	chr19:56187915-56187965	NT2-D1	testis:	n/a
15	chr19:56187915-56187965	LNCaP	prostate:	n/a
16	chr19:56187915-56187965	GM12891	blood:	n/a
17	chr19:56187915-56187965	SKMC	muscle:	n/a
18	chr19:56187915-56187965	HCF	heart:	n/a
19	chr19:56187915-56187965	HRPEpiC	eye:	n/a
20	chr19:56187915-56187965	AoSMC	blood vessel:	n/a
21	chr19:56187915-56187965	AG10803	skin:	n/a
22	chr19:56187915-56187965	MCF10A-Er-Src	breast:	n/a
23	chr19:56187915-56187965	SK-N-MC	brain:	n/a
24	chr19:56187915-56187965	IMR90	lung:	fetal
25	chr19:56187915-56187965	HL-60	blood:	n/a
26	chr19:56187915-56187965	HCM	heart:	n/a
27	chr19:56187915-56187965	HAEpiC	amniotic membrane:	n/a
28	chr19:56187915-56187965	HRE	kidney:	n/a
29	chr19:56187915-56187965	HRCEpiC	kidney:	n/a
30	chr19:56187915-56187965	MCF-7	breast:	n/a
31	chr19:56187915-56187965	AG09309	skin:	n/a
32	chr19:56187915-56187965	AG04449	skin:	fetal
33	chr19:56187915-56187965	K562	blood:	n/a
34	chr19:56187915-56187965	NHBE	bronchial:	n/a
35	chr19:56187915-56187965	BJ	skin:	n/a
36	chr19:56187915-56187965	PFSK-1	brain:	n/a
37	chr19:56187915-56187965	PANC-1	pancreas:	n/a
38	chr19:56187915-56187965	HPAEpiC	pulmonary alveolar:	n/a
39	chr19:56187915-56187965	AG09319	gingival:	n/a
40	chr19:56187915-56187965	Hepatocyte	liver:	n/a
41	chr19:56187915-56187965	SK-N-SH_RA	brain:	n/a
42	chr19:56187915-56187965	HMEC	breast:	n/a
43	chr19:56187915-56187965	Hela-S3	cervix:	n/a
44	chr19:56187915-56187965	Caco-2	colon:	n/a
45	chr19:56187915-56187965	ProgFib	skin:	n/a
46	chr19:56187915-56187965	SAEC	small airway:	n/a
47	chr19:56187915-56187965	HCT-116	colon:	n/a
48	chr19:56187915-56187965	HUVEC	blood vessel:	n/a
49	chr19:56187915-56187965	T-47D	breast:	n/a
50	chr19:56187915-56187965	RPTEC	kidney:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
2	chr19:56185642..56190165-chr19:56193908..56196750,4	MCF-7	breast:
3	chr19:56187596..56189855-chr19:56218072..56219589,2	K562	blood:
4	chr19:56152964..56155802-chr19:56186387..56188533,2	MCF-7	breast:
5	chr19:55918601..55920426-chr19:56186578..56189029,2	K562	blood:
6	chr19:56172318..56174905-chr19:56187838..56190897,3	MCF-7	breast:

No data

Variant related genes	Relation type
EPN1	TF binding region
ENSG00000267523	TF binding region
EPN1	CpG island
ENSG00000267523	CpG island
ENSG00000268593	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000211571	Chromatin interaction
ENSG00000063244	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56115240	1.00[AMR][1000 genomes]
rs56250101	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56331023	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61736526	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933303	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933306	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933307	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933308	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933310	0.81[AFR][1000 genomes]
rs73934401	1.00[AMR][1000 genomes]
rs73934402	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936310	1.00[AMR][1000 genomes]
rs73936311	1.00[AMR][1000 genomes]
rs73936315	1.00[AFR][1000 genomes];1.00[AMR][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	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	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
5	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
6	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv522559	chr19:56185250-56190815	Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56185400-56188000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr19:56185400-56188000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:56185600-56188000	Active TSS	HSMM	muscle
4	chr19:56186000-56188000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:56186000-56188000	Active TSS	GM12878-XiMat	blood
6	chr19:56186000-56188000	Active TSS	NHDF-Ad	bronchial
7	chr19:56186200-56188000	Active TSS	Aorta	Aorta
8	chr19:56186200-56188000	Active TSS	Lung	lung
9	chr19:56186200-56188200	Active TSS	Left Ventricle	heart
10	chr19:56186600-56188000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:56186600-56188400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:56186800-56188000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr19:56186800-56188200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr19:56186800-56188600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:56187000-56188000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr19:56187000-56188000	Active TSS	Right Atrium	heart
17	chr19:56187000-56188000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr19:56187000-56188000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr19:56187000-56188200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:56187000-56188200	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr19:56187000-56188200	Flanking Active TSS	Colonic Mucosa	Colon
22	chr19:56187000-56188400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr19:56187000-56188600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr19:56187000-56188600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:56187000-56188600	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr19:56187000-56189600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr19:56187000-56189600	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr19:56187200-56188000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr19:56187200-56188000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:56187200-56188000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr19:56187200-56188000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr19:56187200-56188000	Flanking Active TSS	Fetal Stomach	stomach
33	chr19:56187200-56188200	Flanking Active TSS	Fetal Brain Female	brain
34	chr19:56187200-56188200	Flanking Active TSS	HUVEC	blood vessel
35	chr19:56187200-56188400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr19:56187200-56188400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:56187200-56188400	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr19:56187200-56188400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr19:56187200-56188400	Flanking Active TSS	Dnd41	blood
40	chr19:56187200-56188400	Flanking Active TSS	Osteobl	bone
41	chr19:56187200-56188600	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr19:56187200-56188600	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr19:56187200-56188600	Flanking Active TSS	Hela-S3	cervix
44	chr19:56187200-56189600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr19:56187200-56189800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr19:56187200-56190000	Flanking Active TSS	Liver	Liver
47	chr19:56187200-56190000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr19:56187400-56188000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr19:56187400-56188000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:56187400-56188000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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