Variant report

Variant	esv1970688
Chromosome Location	chr19:44501975-44502420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr19:44502145-44502412	MCF10A-Er-Src	breast:	n/a	chr19:44502256-44502267
2	FOS	chr19:44502151-44502351	MCF10A-Er-Src	breast:	n/a	chr19:44502256-44502267
3	FOS	chr19:44502131-44502401	HUVEC	blood vessel:	n/a	chr19:44502256-44502267
4	FOS	chr19:44502168-44502373	MCF10A-Er-Src	breast:	n/a	chr19:44502256-44502267
5	JUND	chr19:44502178-44502337	K562	blood:	n/a	n/a
6	NFYB	chr19:44502068-44502329	K562	blood:	n/a	n/a
7	NFYB	chr19:44502158-44502358	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:44502328-44502335	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:44501920-44502097	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:44502120-44502475	PFSK-1	brain:	n/a	n/a
11	STAT3	chr19:44502278-44502340	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44502236-44502286	IMR90	lung:	fetal
2	chr19:44502236-44502286	AoSMC	blood vessel:	n/a
3	chr19:44502236-44502286	HCPEpiC	choroid plexus:	n/a
4	chr19:44502236-44502286	NH-A	brain:	n/a
5	chr19:44502236-44502286	BE2_C	brain:	n/a
6	chr19:44502236-44502286	GM19239	blood:	n/a
7	chr19:44502236-44502286	SK-N-MC	brain:	n/a
8	chr19:44502236-44502286	HAEpiC	amniotic membrane:	n/a
9	chr19:44502236-44502286	AG10803	skin:	n/a
10	chr19:44502236-44502286	U87	brain:	n/a
11	chr19:44502236-44502286	H1-hESC	embryonic stem cell:	embryo
12	chr19:44502236-44502286	HEK293	kidney:	embryo
13	chr19:44502236-44502286	HCT-116	colon:	n/a
14	chr19:44502236-44502286	PFSK-1	brain:	n/a
15	chr19:44502236-44502286	PrEC	prostate:	n/a
16	chr19:44502236-44502286	HCM	heart:	n/a
17	chr19:44502236-44502286	NB4	blood:	n/a
18	chr19:44502236-44502286	HRCEpiC	kidney:	n/a
19	chr19:44502236-44502286	A549	lung:	n/a
20	chr19:44502236-44502286	Caco-2	colon:	n/a
21	chr19:44502236-44502286	SK-N-SH	brain:	n/a
22	chr19:44502236-44502286	HepG2	liver:	n/a
23	chr19:44502236-44502286	Jurkat	blood:	n/a
24	chr19:44502236-44502286	NT2-D1	testis:	n/a
25	chr19:44502236-44502286	NHBE	bronchial:	n/a
26	chr19:44502236-44502286	CMK	blood:	n/a
27	chr19:44502236-44502286	HRPEpiC	eye:	n/a
28	chr19:44502236-44502286	HMEC	breast:	n/a
29	chr19:44502236-44502286	RPTEC	kidney:	n/a
30	chr19:44502236-44502286	Hela-S3	cervix:	n/a
31	chr19:44502236-44502286	HIPEpiC	eye:	n/a
32	chr19:44502236-44502286	AG09309	skin:	n/a
33	chr19:44502236-44502286	ProgFib	skin:	n/a
34	chr19:44502236-44502286	AG04449	skin:	fetal
35	chr19:44502236-44502286	HCF	heart:	n/a
36	chr19:44502236-44502286	NHDF-neo	bronchial:	n/a
37	chr19:44502236-44502286	PANC-1	pancreas:	n/a
38	chr19:44502236-44502286	LNCaP	prostate:	n/a
39	chr19:44502236-44502286	HNPCEpiC	eye:	n/a
40	chr19:44502236-44502286	GM12891	blood:	n/a
41	chr19:44502236-44502286	HPAEpiC	pulmonary alveolar:	n/a
42	chr19:44502236-44502286	BJ	skin:	n/a
43	chr19:44502236-44502286	ovcar-3	ovarian:	n/a
44	chr19:44502236-44502286	HEEpiC	esophagus:	n/a
45	chr19:44502236-44502286	HRE	kidney:	n/a
46	chr19:44502236-44502286	SK-N-SH_RA	brain:	n/a
47	chr19:44502236-44502286	GM12892	blood:	n/a
48	chr19:44502236-44502286	MCF10A-Er-Src	breast:	n/a
49	chr19:44502236-44502286	ECC-1	luminal epithelium:	n/a
50	chr19:44502236-44502286	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44501460..44503364-chr19:44505726..44508056,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF45-2	chr19:44501048-44502536	NONHSAT066650
2	lnc-ZNF45-2	chr19:44501048-44503384	ENSG00000266921.1

No data

Variant related genes	Relation type
ZNF230	TF binding region
ZNF230	CpG island
ENSG00000266921	chromatin interactions
ENSG00000159882	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369780812	chr19:44501995-44501996	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs200821762	chr19:44502108-44502109	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs572151986	chr19:44502143-44502144	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs368438732	chr19:44502151-44502152	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs376005802	chr19:44502168-44502169	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs377503	chr19:44502184-44502185	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs11083729	chr19:44502206-44502207	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs11083730	chr19:44502211-44502212	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs184156314	chr19:44502237-44502238	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs555159069	chr19:44502268-44502269	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs575089004	chr19:44502293-44502294	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs368652278	chr19:44502304-44502305	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs563984754	chr19:44502335-44502336	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs144318687	chr19:44502338-44502339	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs546204397	chr19:44502339-44502340	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs559591576	chr19:44502359-44502360	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs528629079	chr19:44502408-44502409	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44489200-44506200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:44489200-44506200	Weak transcription	Hela-S3	cervix
3	chr19:44489600-44506200	Weak transcription	HepG2	liver
4	chr19:44491000-44503400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:44491000-44503800	ZNF genes & repeats	Liver	Liver
6	chr19:44491400-44503400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr19:44491800-44502200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:44492000-44502000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:44492400-44502000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:44492400-44502200	Strong transcription	Fetal Intestine Large	intestine
11	chr19:44492400-44502200	Strong transcription	HSMM	muscle
12	chr19:44492400-44502400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:44492400-44502400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:44492400-44502600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr19:44492600-44502000	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr19:44492600-44502200	Strong transcription	Dnd41	blood
17	chr19:44492600-44502400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:44492600-44502400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:44492600-44502600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:44492800-44502000	Strong transcription	Brain Substantia Nigra	brain
21	chr19:44492800-44502000	Strong transcription	Fetal Thymus	thymus
22	chr19:44492800-44502000	Strong transcription	HSMMtube	muscle
23	chr19:44492800-44502200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:44493200-44502200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:44493400-44502000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:44493400-44502400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:44493600-44502200	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr19:44494400-44502000	Strong transcription	Right Ventricle	heart
29	chr19:44496600-44503200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr19:44496600-44506200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:44497000-44506400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr19:44497000-44506600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr19:44498400-44502400	Strong transcription	Psoas Muscle	Psoas
34	chr19:44498600-44502000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
35	chr19:44498800-44502000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr19:44499000-44502000	ZNF genes & repeats	Pancreas	Pancrea
37	chr19:44499000-44502400	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr19:44499200-44502000	ZNF genes & repeats	Aorta	Aorta
39	chr19:44499200-44506200	Weak transcription	Fetal Heart	heart
40	chr19:44499200-44506200	Weak transcription	NHDF-Ad	bronchial
41	chr19:44499200-44506200	Weak transcription	NHLF	lung
42	chr19:44499600-44502000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
43	chr19:44500000-44502000	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr19:44500000-44502400	Strong transcription	Fetal Brain Female	brain
45	chr19:44500200-44502000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
46	chr19:44500200-44502200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr19:44500200-44502200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr19:44500200-44502200	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr19:44500200-44502400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:44500200-44502400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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