Variant report

Variant	esv3372550
Chromosome Location	chr19:21005212-21007160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561436012	chr19:21005224-21005225	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs368253142	chr19:21005228-21005229	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563264732	chr19:21005236-21005237	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs576960259	chr19:21005241-21005242	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs148692413	chr19:21005247-21005248	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs10418060	chr19:21005465-21005466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142161358	chr19:21005508-21005509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10419799	chr19:21005535-21005536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs10418286	chr19:21005543-21005544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs530199313	chr19:21005581-21005582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373316593	chr19:21005589-21005590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376105768	chr19:21005594-21005595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369204630	chr19:21005606-21005607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376399154	chr19:21005612-21005613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182196224	chr19:21005624-21005625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184942118	chr19:21005664-21005665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189748138	chr19:21005677-21005678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569689570	chr19:21005678-21005679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538678414	chr19:21005680-21005681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552167898	chr19:21005681-21005682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554375711	chr19:21005695-21005696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111432141	chr19:21005709-21005710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574147829	chr19:21005717-21005718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202039059	chr19:21005722-21005723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534615615	chr19:21005753-21005754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554707805	chr19:21005765-21005766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185650184	chr19:21005766-21005767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62640418	chr19:21005777-21005778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62640419	chr19:21005779-21005780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62649812	chr19:21005784-21005785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193219723	chr19:21005797-21005798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370838467	chr19:21005808-21005809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183412354	chr19:21005810-21005811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186623844	chr19:21005837-21005838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191611962	chr19:21005839-21005840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184144943	chr19:21005844-21005845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536469342	chr19:21005852-21005853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373676250	chr19:21005857-21005858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375790434	chr19:21005868-21005869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572654202	chr19:21005870-21005871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553117135	chr19:21005883-21005884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188804045	chr19:21005888-21005889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192856054	chr19:21005919-21005920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185158112	chr19:21005928-21005929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190049391	chr19:21005950-21005951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530256459	chr19:21005963-21005964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543493518	chr19:21005992-21005993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563405898	chr19:21005994-21005995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12460529	chr19:21006074-21006075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532490236	chr19:21006105-21006106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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	18451855	CNVD
Schizophrenia	20967226	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20991000-21006800	Weak transcription	Ovary	ovary
2	chr19:20999000-21006600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:21000000-21005400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:21001600-21006800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:21005000-21007200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr19:21005200-21005400	ZNF genes & repeats	Dnd41	blood
7	chr19:21005400-21006800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:21006600-21007600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:21006800-21007000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:21006800-21007600	ZNF genes & repeats	Thymus	Thymus
11	chr19:21006800-21008600	ZNF genes & repeats	Fetal Lung	lung
12	chr19:21006800-21009200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr19:21006800-21009200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:21006800-21009200	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr19:21006800-21009200	ZNF genes & repeats	Ovary	ovary
16	chr19:21006800-21009200	ZNF genes & repeats	Dnd41	blood
17	chr19:21006800-21009400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:21006800-21009600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr19:21006800-21011200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:21007000-21007200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
21	chr19:21007000-21007400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr19:21007000-21007400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
23	chr19:21007000-21007400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
24	chr19:21007000-21007600	ZNF genes & repeats	Left Ventricle	heart
25	chr19:21007000-21009000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:21007000-21009200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:21007000-21009200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:21007000-21009200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr19:21007000-21009200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
30	chr19:21007000-21009400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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