Variant report

Variant	esv3336608
Chromosome Location	chr19:22609112-22612460
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	chr19:22610980-22611130	WERI-Rb-1	eye:	n/a	chr19:22611009-22611022 chr19:22611006-22611019
2	CTCF	chr19:22611007-22611143	Pancreas_OC	pancreas:	n/a	chr19:22611009-22611022
3	POLR2A	chr19:22612378-22612436	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr19:22609134-22609294	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
ZNF98	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536601453	chr19:22609113-22609114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547751900	chr19:22609138-22609139	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558141562	chr19:22609156-22609157	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs577988408	chr19:22609230-22609231	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs567134043	chr19:22609232-22609233	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs534518131	chr19:22609293-22609294	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs559085963	chr19:22609333-22609334	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577398362	chr19:22609357-22609358	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374754075	chr19:22609380-22609381	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540916930	chr19:22609384-22609385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187136582	chr19:22609395-22609396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545151366	chr19:22609396-22609397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556826770	chr19:22609431-22609432	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191621888	chr19:22609438-22609439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112972727	chr19:22609443-22609444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542177446	chr19:22609511-22609512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560569794	chr19:22609590-22609591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369761077	chr19:22609618-22609619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373976531	chr19:22609631-22609632	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116827204	chr19:22609637-22609638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540167699	chr19:22609712-22609713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111628481	chr19:22609714-22609715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369688639	chr19:22609715-22609716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7251413	chr19:22609759-22609760	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs550751896	chr19:22609772-22609773	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569212031	chr19:22609781-22609782	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77419932	chr19:22609783-22609784	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184395097	chr19:22609795-22609796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369870773	chr19:22609807-22609808	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559027410	chr19:22609885-22609886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571022141	chr19:22609886-22609887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535776928	chr19:22609888-22609889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10413808	chr19:22609983-22609984	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs903937	chr19:22609988-22609989	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535966676	chr19:22609994-22609995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71891091	chr19:22610002-22610003	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71894757	chr19:22610004-22610005	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200184806	chr19:22610005-22610006	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554124750	chr19:22610007-22610008	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67172225	chr19:22610010-22610011	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60381994	chr19:22610011-22610012	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572543066	chr19:22610027-22610028	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377601069	chr19:22610064-22610065	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370655835	chr19:22610087-22610088	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564982761	chr19:22610098-22610099	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112117249	chr19:22610161-22610162	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544040731	chr19:22610179-22610180	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114145966	chr19:22610290-22610291	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs199785180	chr19:22610317-22610318	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs530195493	chr19:22610416-22610417	ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22604200-22609800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:22604400-22611600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:22604800-22610800	Weak transcription	Fetal Heart	heart
4	chr19:22609400-22611600	ZNF genes & repeats	Fetal Stomach	stomach
5	chr19:22610000-22610200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr19:22610200-22611400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
7	chr19:22610200-22611600	Active TSS	Right Ventricle	heart
8	chr19:22610400-22610600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:22610400-22610800	Active TSS	Brain Substantia Nigra	brain
10	chr19:22610400-22610800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr19:22610400-22610800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
12	chr19:22610400-22611000	Active TSS	Right Atrium	heart
13	chr19:22610400-22611200	Active TSS	Brain Angular Gyrus	brain
14	chr19:22610400-22611200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:22610400-22611200	ZNF genes & repeats	Ovary	ovary
16	chr19:22610400-22611400	Active TSS	Primary hematopoietic stem cells	blood
17	chr19:22610400-22611400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr19:22610400-22611600	Bivalent/Poised TSS	Left Ventricle	heart
19	chr19:22610400-22611600	ZNF genes & repeats	Pancreas	Pancrea
20	chr19:22610400-22612200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr19:22610600-22611000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
22	chr19:22610600-22611000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
23	chr19:22610600-22611000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
24	chr19:22610600-22611200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:22610600-22611200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
26	chr19:22610600-22611200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
27	chr19:22610600-22611200	Active TSS	Placenta Amnion	Placenta Amnion
28	chr19:22610600-22611400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:22610800-22611000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr19:22610800-22611000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
31	chr19:22610800-22611000	Enhancers	Fetal Heart	heart
32	chr19:22610800-22611000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
33	chr19:22611000-22611200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr19:22611000-22611200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr19:22611000-22611200	Bivalent Enhancer	Lung	lung
36	chr19:22611000-22611400	ZNF genes & repeats	Right Atrium	heart
37	chr19:22611000-22611600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:22611200-22611800	Active TSS	Brain Cingulate Gyrus	brain
39	chr19:22611400-22611600	Enhancers	Primary hematopoietic stem cells	blood

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