Variant report

Variant	esv3387904
Chromosome Location	chr19:44723012-44726710
allele	n/a
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	chr19:44724705-44724748	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr19:44724640-44724788	MCF-7	breast:	n/a	n/a
3	CTCF	chr19:44724625-44724793	MCF-7	breast:	n/a	n/a
4	CTCF	chr19:44724658-44724781	MCF-7	breast:	n/a	n/a
5	CTCF	chr19:44724664-44724776	MCF-7	breast:	n/a	n/a
6	MYC	chr19:44724660-44724769	MCF-7	breast:	n/a	n/a
7	POLR2A	chr19:44724558-44724710	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44716732..44718428-chr19:44721067..44723325,2	MCF-7	breast:

Variant related genes	Relation type
ZNF227	TF binding region
ENSG00000131115	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552868812	chr19:44723045-44723046	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs117298426	chr19:44723048-44723049	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376931280	chr19:44723075-44723076	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146989592	chr19:44723088-44723089	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568499765	chr19:44723089-44723090	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537510571	chr19:44723143-44723144	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556084591	chr19:44723144-44723145	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569802160	chr19:44723155-44723156	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79039506	chr19:44723195-44723196	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555398774	chr19:44723196-44723197	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542613143	chr19:44723222-44723223	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183439425	chr19:44723228-44723229	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540674309	chr19:44723291-44723292	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs554540454	chr19:44723300-44723301	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574459412	chr19:44723320-44723321	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148003402	chr19:44723412-44723413	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs113237834	chr19:44723414-44723415	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs370110979	chr19:44723438-44723439	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs543457905	chr19:44723450-44723451	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs544643732	chr19:44723462-44723463	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs563753310	chr19:44723502-44723503	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs532787412	chr19:44723541-44723542	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs4803692	chr19:44723570-44723571	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188331589	chr19:44723575-44723576	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs528784005	chr19:44723593-44723594	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373007773	chr19:44723594-44723595	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs373740883	chr19:44723621-44723622	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35147081	chr19:44723641-44723642	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548609609	chr19:44723650-44723651	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371339147	chr19:44723652-44723653	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568393728	chr19:44723670-44723671	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374965377	chr19:44723675-44723676	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530928786	chr19:44723680-44723681	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143717706	chr19:44723700-44723701	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544523661	chr19:44723813-44723814	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193185290	chr19:44723850-44723851	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2051058	chr19:44723851-44723852	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs538476024	chr19:44723855-44723856	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370761338	chr19:44723912-44723913	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556094064	chr19:44723913-44723914	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556731848	chr19:44723916-44723917	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183536613	chr19:44723975-44723976	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112640587	chr19:44723977-44723978	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113610037	chr19:44724005-44724006	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76540896	chr19:44724016-44724017	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565678699	chr19:44724088-44724089	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12104310	chr19:44724103-44724104	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199616852	chr19:44724110-44724111	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554271448	chr19:44724118-44724119	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574347634	chr19:44724138-44724139	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	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:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44717400-44739000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44717600-44725000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:44717600-44725200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:44717600-44730200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:44717600-44739600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:44717800-44731600	Weak transcription	HSMMtube	muscle
7	chr19:44717800-44732200	Weak transcription	Stomach Mucosa	stomach
8	chr19:44718000-44723600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:44718000-44725000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:44718200-44723800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:44718200-44732400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:44718200-44732400	Weak transcription	K562	blood
13	chr19:44718200-44732600	Weak transcription	HepG2	liver
14	chr19:44718200-44732800	Weak transcription	HMEC	breast
15	chr19:44718200-44738800	Weak transcription	Hela-S3	cervix
16	chr19:44718400-44732400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr19:44718400-44736400	Weak transcription	HUVEC	blood vessel
18	chr19:44718600-44724800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:44718800-44723200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr19:44718800-44723400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:44718800-44723400	Strong transcription	Fetal Muscle Leg	muscle
22	chr19:44718800-44723600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:44718800-44723600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr19:44718800-44723600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr19:44718800-44723800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr19:44718800-44724000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:44718800-44724000	ZNF genes & repeats	Liver	Liver
28	chr19:44718800-44724000	Strong transcription	Fetal Intestine Large	intestine
29	chr19:44718800-44725000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:44718800-44725000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:44718800-44725600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:44719000-44723600	Strong transcription	Primary B cells from peripheral blood	blood
33	chr19:44719000-44723800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr19:44719000-44725000	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr19:44719200-44723600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:44719200-44723800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr19:44719600-44723600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:44719600-44725200	Strong transcription	Dnd41	blood
39	chr19:44719800-44723800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr19:44720000-44723400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:44720400-44723400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr19:44720400-44723600	Strong transcription	Brain Angular Gyrus	brain
43	chr19:44720400-44723800	ZNF genes & repeats	GM12878-XiMat	blood
44	chr19:44720600-44723200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr19:44720600-44723200	ZNF genes & repeats	Fetal Kidney	kidney
46	chr19:44720600-44723600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:44720600-44723600	Strong transcription	Brain Anterior Caudate	brain
48	chr19:44720600-44723800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:44720800-44723400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:44720800-44723600	Strong transcription	Primary T cells from cord blood	blood

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