Variant report

Variant	esv3411350
Chromosome Location	chr19:44724605-44726483
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	chr19:44724664-44724776	MCF-7	breast:	n/a	n/a
2	CTCF	chr19:44724658-44724781	MCF-7	breast:	n/a	n/a
3	CTCF	chr19:44724640-44724788	MCF-7	breast:	n/a	n/a
4	CTCF	chr19:44724625-44724793	MCF-7	breast:	n/a	n/a
5	CTCF	chr19:44724705-44724748	H1-hESC	embryonic stem cell:	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

Variant related genes	Relation type
ZNF227	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62117777	chr19:44724617-44724618	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150178882	chr19:44724661-44724662	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551963783	chr19:44724663-44724664	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565492163	chr19:44724671-44724672	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2051059	chr19:44724723-44724724	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548430890	chr19:44724784-44724785	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138711887	chr19:44724790-44724791	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537096716	chr19:44724802-44724803	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192556458	chr19:44724811-44724812	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114687807	chr19:44724812-44724813	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10412910	chr19:44724865-44724866	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs75705436	chr19:44724894-44724895	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201768634	chr19:44724941-44724942	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62117778	chr19:44724958-44724959	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573438082	chr19:44724959-44724960	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200098106	chr19:44725032-44725033	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs547309145	chr19:44725072-44725073	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188474211	chr19:44725080-44725081	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs367788625	chr19:44725081-44725082	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs544636186	chr19:44725106-44725107	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs370097394	chr19:44725107-44725108	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs564100348	chr19:44725144-44725145	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs147064092	chr19:44725220-44725221	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs546661884	chr19:44725271-44725272	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs565480751	chr19:44725272-44725273	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs528316622	chr19:44725310-44725311	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs548080088	chr19:44725326-44725327	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs568382361	chr19:44725369-44725370	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs536907429	chr19:44725377-44725378	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs550552252	chr19:44725386-44725387	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs570432308	chr19:44725392-44725393	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs539552888	chr19:44725467-44725468	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs375691463	chr19:44725485-44725486	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs368520530	chr19:44725492-44725493	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs532710848	chr19:44725528-44725529	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs572956059	chr19:44725531-44725532	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs536095408	chr19:44725543-44725544	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs12089008	chr19:44725573-44725574	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs111796447	chr19:44725671-44725672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113738081	chr19:44725710-44725711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555674631	chr19:44725717-44725718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111712828	chr19:44725735-44725736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575906032	chr19:44725741-44725742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544533305	chr19:44725756-44725757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564163633	chr19:44725761-44725762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577581357	chr19:44725777-44725778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191748632	chr19:44725858-44725859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560260135	chr19:44725872-44725873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529358945	chr19:44726060-44726061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542017049	chr19:44726061-44726062	Weak 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:122 , 50 per page) page: 1 2 3

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	chr19:44718000-44725000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:44718200-44732400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:44718200-44732400	Weak transcription	K562	blood
11	chr19:44718200-44732600	Weak transcription	HepG2	liver
12	chr19:44718200-44732800	Weak transcription	HMEC	breast
13	chr19:44718200-44738800	Weak transcription	Hela-S3	cervix
14	chr19:44718400-44732400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:44718400-44736400	Weak transcription	HUVEC	blood vessel
16	chr19:44718600-44724800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:44718800-44725000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:44718800-44725000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr19:44718800-44725600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:44719000-44725000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr19:44719600-44725200	Strong transcription	Dnd41	blood
22	chr19:44722000-44726000	Weak transcription	Psoas Muscle	Psoas
23	chr19:44722000-44730000	Weak transcription	Gastric	stomach
24	chr19:44722000-44730200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:44722000-44730800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:44722000-44732000	Weak transcription	Colonic Mucosa	Colon
27	chr19:44722000-44732400	Weak transcription	Fetal Heart	heart
28	chr19:44722200-44725200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr19:44722200-44731000	Weak transcription	NHDF-Ad	bronchial
30	chr19:44722400-44731800	Weak transcription	Primary B cells from cord blood	blood
31	chr19:44722800-44732000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:44723200-44731200	Weak transcription	Fetal Kidney	kidney
33	chr19:44723200-44732400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:44723400-44725000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:44723400-44725800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr19:44723400-44729600	Weak transcription	Fetal Stomach	stomach
37	chr19:44723400-44730000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:44723400-44730000	Weak transcription	Fetal Intestine Small	intestine
39	chr19:44723400-44730200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:44723400-44730200	Weak transcription	Aorta	Aorta
41	chr19:44723400-44730200	Weak transcription	Pancreas	Pancrea
42	chr19:44723400-44731600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:44723400-44731800	Weak transcription	Left Ventricle	heart
44	chr19:44723400-44731800	Weak transcription	Right Ventricle	heart
45	chr19:44723600-44725400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:44723600-44725600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:44723600-44726000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr19:44723600-44729800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:44723600-44729800	Weak transcription	Brain Germinal Matrix	brain
50	chr19:44723600-44729800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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