Variant report

Variant	esv2144347
Chromosome Location	chr19:24285047-24285048
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:24273653..24275947-chr19:24283763..24286065,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 42 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370671932	chr19:24285047-24285048	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24270600-24286000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr19:24270600-24289200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr19:24270600-24290600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:24270600-24290600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:24270600-24290600	Weak transcription	Gastric	stomach
6	chr19:24270600-24290600	Weak transcription	Pancreas	Pancrea
7	chr19:24270600-24290600	Weak transcription	Spleen	Spleen
8	chr19:24270600-24296200	Weak transcription	Stomach Mucosa	stomach
9	chr19:24270800-24286000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:24270800-24289400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:24270800-24289400	Weak transcription	Ovary	ovary
12	chr19:24270800-24289400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr19:24270800-24290600	Weak transcription	Aorta	Aorta
14	chr19:24270800-24290600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr19:24270800-24291000	Weak transcription	Psoas Muscle	Psoas
16	chr19:24270800-24291400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:24271000-24289000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr19:24271000-24289200	Weak transcription	Placenta	Placenta
19	chr19:24271000-24290800	Weak transcription	Right Ventricle	heart
20	chr19:24271200-24289200	Weak transcription	Colon Smooth Muscle	Colon
21	chr19:24271200-24289200	Weak transcription	NH-A	brain
22	chr19:24271200-24289600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr19:24271200-24300200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:24271400-24286200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:24271400-24288200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr19:24271400-24288400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:24271400-24289400	Weak transcription	Colonic Mucosa	Colon
28	chr19:24271400-24290600	Weak transcription	Hela-S3	cervix
29	chr19:24271400-24292400	Weak transcription	NHEK	skin
30	chr19:24271400-24295000	Weak transcription	HMEC	breast
31	chr19:24271400-24301400	Weak transcription	HSMMtube	muscle
32	chr19:24271400-24308600	Weak transcription	K562	blood
33	chr19:24271600-24286000	Weak transcription	Adipose Nuclei	Adipose
34	chr19:24271600-24286800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:24271600-24289400	Weak transcription	Small Intestine	intestine
36	chr19:24271800-24287400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:24271800-24289400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:24273400-24286600	Weak transcription	Right Atrium	heart
39	chr19:24273600-24287600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr19:24275200-24294000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:24275400-24286000	Weak transcription	Thymus	Thymus
42	chr19:24275800-24290600	Weak transcription	Fetal Thymus	thymus
43	chr19:24276000-24289400	Weak transcription	Fetal Brain Male	brain
44	chr19:24277000-24288400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:24277400-24286000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr19:24278000-24286200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:24279200-24289200	Weak transcription	Fetal Stomach	stomach
48	chr19:24279400-24290600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:24280400-24286400	Weak transcription	HUVEC	blood vessel
50	chr19:24280800-24293800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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