Variant report

Variant	rs73578289
Chromosome Location	chr19:53073351-53073352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:227)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:227 , 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	CTCF	chr19:53073240-53073390	HFF	foreskin:	n/a	n/a
2	POLR2A	chr19:53073323-53074091	GM12892	blood:	n/a	n/a
3	NR2F2	chr19:53073268-53073972	K562	blood:	n/a	n/a
4	SP1	chr19:53073128-53073756	H1-hESC	embryonic stem cell:	n/a	n/a
5	GABPA	chr19:53073303-53074051	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr19:53073340-53073490	HCFaa	heart:	n/a	n/a
7	POLR2A	chr19:53073002-53075041	GM12878	blood:	n/a	n/a
8	MAX	chr19:53073307-53073686	K562	blood:	n/a	n/a
9	POLR2A	chr19:53073334-53074104	GM12892	blood:	n/a	n/a
10	POLR2A	chr19:53073314-53074135	K562	blood:	n/a	n/a
11	CTCF	chr19:53073260-53073410	NHDF-neo	bronchial:	n/a	n/a
12	HCFC1	chr19:53073212-53074110	Hela-S3	cervix:	n/a	n/a
13	SRF	chr19:53073280-53074193	MCF-7	breast:	n/a	n/a
14	CTCF	chr19:53073320-53073470	GM12872	blood:	n/a	n/a
15	POLR2A	chr19:53073292-53074165	GM12878	blood:	n/a	n/a
16	CTCF	chr19:53073340-53073490	RPTEC	kidney:	n/a	n/a
17	CTCF	chr19:53073320-53073470	HPF	lung:	n/a	n/a
18	RELA	chr19:53073280-53074090	GM15510	blood:	n/a	n/a
19	GABPA	chr19:53073236-53074051	MCF-7	breast:	n/a	n/a
20	FOSL2	chr19:53072997-53073704	HepG2	liver:	n/a	n/a
21	POLR2A	chr19:53073246-53074018	GM12878	blood:	n/a	n/a
22	MXI1	chr19:53072742-53074375	SK-N-SH	brain:	n/a	chr19:53073030-53073039
23	CHD2	chr19:53073339-53074084	GM12878	blood:	n/a	chr19:53074031-53074041
24	CTCF	chr19:53073312-53073519	Pancreas_OC	pancreas:	n/a	n/a
25	CTCF	chr19:53073277-53073536	K562	blood:	n/a	n/a
26	CTCF	chr19:53073240-53073390	HEK293	kidney:	n/a	n/a
27	POLR2A	chr19:53072882-53074076	H1-hESC	embryonic stem cell:	n/a	n/a
28	NRF1	chr19:53073320-53074036	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:53073011-53073962	HepG2	liver:	n/a	n/a
30	CTCF	chr19:53073340-53073490	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr19:53073260-53073410	Caco-2	colon:	n/a	n/a
32	POLR2A	chr19:53072963-53074749	GM12892	blood:	n/a	n/a
33	POLR2A	chr19:53073007-53074057	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr19:53073260-53073410	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr19:53073340-53073490	GM12864	blood:	n/a	n/a
36	POLR2A	chr19:53072986-53074259	SK-N-MC	brain:	n/a	n/a
37	SIN3AK20	chr19:53073338-53074119	SK-N-SH	brain:	n/a	n/a
38	SMC3	chr19:53073311-53073530	K562	blood:	n/a	n/a
39	POLR2A	chr19:53073172-53074047	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr19:53073145-53073781	K562	blood:	n/a	n/a
41	ELF1	chr19:53073210-53074251	GM12878	blood:	n/a	chr19:53073632-53073645 chr19:53073724-53073735 chr19:53073724-53073735
42	POLR2A	chr19:53073165-53074276	K562	blood:	n/a	n/a
43	SP1	chr19:53072743-53073770	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr19:53073240-53073390	GM12870	blood:	n/a	n/a
45	SP1	chr19:53073184-53073678	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:53073008-53074119	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr19:53073322-53074051	K562	blood:	n/a	n/a
48	CTCF	chr19:53073265-53073672	K562	blood:	n/a	n/a
49	CTCF	chr19:53073240-53073390	WI-38	lung:	n/a	n/a
50	REST	chr19:53072718-53074231	H1-neurons	neurons:	n/a	chr19:53073975-53073995 chr19:53073975-53073995 chr19:53073976-53073994 chr19:53073983-53073993

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53073309-53073359	U87	brain:	n/a
2	chr19:53073334-53073384	PrEC	prostate:	n/a
3	chr19:53073334-53073384	MCF-7	breast:	n/a
4	chr19:53073309-53073359	AG04450	lung:	fetal
5	chr19:53073309-53073359	HCPEpiC	choroid plexus:	n/a
6	chr19:53073309-53073359	AG09319	gingival:	n/a
7	chr19:53073309-53073359	AG04449	skin:	fetal
8	chr19:53073309-53073359	AG10803	skin:	n/a
9	chr19:53073334-53073384	AG04450	lung:	fetal
10	chr19:53073334-53073384	GM12891	blood:	n/a
11	chr19:53073334-53073384	ProgFib	skin:	n/a
12	chr19:53073334-53073384	HRCEpiC	kidney:	n/a
13	chr19:53073309-53073359	NHBE	bronchial:	n/a
14	chr19:53073309-53073359	HAEpiC	amniotic membrane:	n/a
15	chr19:53073309-53073359	T-47D	breast:	n/a
16	chr19:53073334-53073384	HPAEpiC	pulmonary alveolar:	n/a
17	chr19:53073334-53073384	LNCaP	prostate:	n/a
18	chr19:53073334-53073384	A549	lung:	n/a
19	chr19:53073309-53073359	AoSMC	blood vessel:	n/a
20	chr19:53073334-53073384	ovcar-3	ovarian:	n/a
21	chr19:53073334-53073384	CMK	blood:	n/a
22	chr19:53073309-53073359	HNPCEpiC	eye:	n/a
23	chr19:53073309-53073359	PANC-1	pancreas:	n/a
24	chr19:53073309-53073359	GM12891	blood:	n/a
25	chr19:53073334-53073384	SK-N-SH	brain:	n/a
26	chr19:53073334-53073384	NH-A	brain:	n/a
27	chr19:53073309-53073359	SAEC	small airway:	n/a
28	chr19:53073309-53073359	SK-N-SH_RA	brain:	n/a
29	chr19:53073334-53073384	HAEpiC	amniotic membrane:	n/a
30	chr19:53073309-53073359	MCF10A-Er-Src	breast:	n/a
31	chr19:53073334-53073384	AoSMC	blood vessel:	n/a
32	chr19:53073334-53073384	HCF	heart:	n/a
33	chr19:53073309-53073359	BE2_C	brain:	n/a
34	chr19:53073309-53073359	Caco-2	colon:	n/a
35	chr19:53073309-53073359	Hepatocyte	liver:	n/a
36	chr19:53073334-53073384	BJ	skin:	n/a
37	chr19:53073334-53073384	PFSK-1	brain:	n/a
38	chr19:53073334-53073384	HUVEC	blood vessel:	n/a
39	chr19:53073309-53073359	HL-60	blood:	n/a
40	chr19:53073309-53073359	GM12878	blood:	n/a
41	chr19:53073334-53073384	HEEpiC	esophagus:	n/a
42	chr19:53073309-53073359	HIPEpiC	eye:	n/a
43	chr19:53073334-53073384	SK-N-SH_RA	brain:	n/a
44	chr19:53073309-53073359	GM19239	blood:	n/a
45	chr19:53073334-53073384	IMR90	lung:	fetal
46	chr19:53073334-53073384	HEK293	kidney:	embryo
47	chr19:53073334-53073384	K562	blood:	n/a
48	chr19:53073334-53073384	GM12892	blood:	n/a
49	chr19:53073309-53073359	Jurkat	blood:	n/a
50	chr19:53073334-53073384	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53029127..53032188-chr19:53072538..53075129,3	K562	blood:
2	chr19:53029450..53032188-chr19:53072538..53074123,2	K562	blood:

No data

Variant related genes	Relation type
ZNF701	TF binding region
ZNF701	CpG island
ENSG00000198482	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12979584	0.86[ASN][1000 genomes]
rs2029316	0.86[ASN][1000 genomes]
rs2061652	1.00[ASN][1000 genomes]
rs2447422	1.00[ASN][1000 genomes]
rs2931759	1.00[ASN][1000 genomes]
rs2931760	1.00[ASN][1000 genomes]
rs34066730	0.86[ASN][1000 genomes]
rs34603606	0.86[ASN][1000 genomes]
rs34866464	0.86[ASN][1000 genomes]
rs35068231	0.86[ASN][1000 genomes]
rs35990292	0.86[ASN][1000 genomes]
rs35993483	0.86[ASN][1000 genomes]
rs4401146	0.86[ASN][1000 genomes]
rs55930753	1.00[ASN][1000 genomes]
rs60617297	1.00[ASN][1000 genomes]
rs61746334	0.86[ASN][1000 genomes]
rs73578286	1.00[ASN][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	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv510772	chr19:53037211-53103470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv458743	chr19:53065661-53114267	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv580027	chr19:53065661-53114267	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv912304	chr19:53071155-53114267	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr19:53062000-53077800	ZNF genes & repeats	Liver	Liver
2	chr19:53071800-53073400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:53072400-53074000	Active TSS	Osteobl	bone
4	chr19:53072400-53074200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr19:53072600-53074000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr19:53072600-53074000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:53072600-53074000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr19:53072600-53074400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr19:53072600-53074600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:53072600-53074600	Active TSS	Fetal Brain Female	brain
11	chr19:53072800-53073400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr19:53072800-53073400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:53072800-53073400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr19:53072800-53073400	Flanking Active TSS	Dnd41	blood
15	chr19:53072800-53073400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr19:53072800-53073600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr19:53072800-53073600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:53072800-53073600	Active TSS	Adipose Nuclei	Adipose
19	chr19:53072800-53073800	Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr19:53072800-53073800	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr19:53072800-53073800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:53072800-53073800	Active TSS	Duodenum Mucosa	Duodenum
23	chr19:53072800-53073800	Active TSS	Fetal Lung	lung
24	chr19:53072800-53073800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr19:53072800-53073800	Active TSS	Right Ventricle	heart
26	chr19:53072800-53073800	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr19:53072800-53073800	Active TSS	NH-A	brain
28	chr19:53072800-53074000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:53072800-53074000	Active TSS	Muscle Satellite Cultured Cells	--
30	chr19:53072800-53074000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:53072800-53074000	Active TSS	Brain Angular Gyrus	brain
32	chr19:53072800-53074000	Active TSS	Brain Hippocampus Middle	brain
33	chr19:53072800-53074000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr19:53072800-53074000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:53072800-53074000	Active TSS	Colon Smooth Muscle	Colon
36	chr19:53072800-53074000	Active TSS	Fetal Brain Male	brain
37	chr19:53072800-53074000	Active TSS	Placenta Amnion	Placenta Amnion
38	chr19:53072800-53074000	Active TSS	Rectal Smooth Muscle	rectum
39	chr19:53072800-53074000	Active TSS	Right Atrium	heart
40	chr19:53072800-53074000	Active TSS	HSMM	muscle
41	chr19:53072800-53074200	Active TSS	Left Ventricle	heart
42	chr19:53072800-53074400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:53072800-53074400	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr19:53072800-53074400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:53072800-53074400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:53072800-53074400	Active TSS	Brain Anterior Caudate	brain
47	chr19:53072800-53074400	Active TSS	Brain Germinal Matrix	brain
48	chr19:53072800-53074400	Active TSS	Fetal Intestine Large	intestine
49	chr19:53072800-53074400	Active TSS	Fetal Kidney	kidney
50	chr19:53072800-53074400	Active TSS	Pancreatic Islets	Pancreatic Islet

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