Variant report

Variant	esv1802280
Chromosome Location	chr19:19951158-19961214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 310 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574145127	chr19:19951167-19951168	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs188622209	chr19:19951177-19951178	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139188854	chr19:19951225-19951226	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142503671	chr19:19951256-19951257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74932245	chr19:19951337-19951338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530349627	chr19:19951343-19951344	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77429561	chr19:19951377-19951378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564034551	chr19:19951390-19951391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145932965	chr19:19951429-19951430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552165488	chr19:19951438-19951439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181407227	chr19:19951488-19951489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555847842	chr19:19951496-19951497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528562574	chr19:19951524-19951525	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548705171	chr19:19951525-19951526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568147920	chr19:19951550-19951551	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553751818	chr19:19951551-19951552	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185891406	chr19:19951574-19951575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76833797	chr19:19951678-19951679	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs11882164	chr19:19951731-19951732	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190445581	chr19:19951836-19951837	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs114255754	chr19:19951861-19951862	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs572915569	chr19:19951871-19951872	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs182088980	chr19:19951938-19951939	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs187640696	chr19:19951985-19951986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs574904538	chr19:19951988-19951989	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs558167212	chr19:19951989-19951990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544013516	chr19:19952269-19952270	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs117142764	chr19:19952277-19952278	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190713936	chr19:19952285-19952286	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546137680	chr19:19952288-19952289	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs62135270	chr19:19952299-19952300	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs114602517	chr19:19952358-19952359	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs559313991	chr19:19952452-19952453	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs528502558	chr19:19952459-19952460	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs548371980	chr19:19952472-19952473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs149507068	chr19:19952535-19952536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs376049975	chr19:19952540-19952541	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs372608427	chr19:19952546-19952547	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs374280308	chr19:19952571-19952572	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs559689195	chr19:19952633-19952634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs562233296	chr19:19952702-19952703	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs573315354	chr19:19952801-19952802	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs182403782	chr19:19952803-19952804	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs550753806	chr19:19952839-19952840	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs547426225	chr19:19952853-19952854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs542317016	chr19:19952873-19952874	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs570704344	chr19:19952892-19952893	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539733972	chr19:19952975-19952976	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs546948279	chr19:19952985-19952986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs566450752	chr19:19953082-19953083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	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
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Nasopharyngeal cancer	20548289	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19933400-19953400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:19945800-19951200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:19950200-19966600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:19951200-19951600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr19:19951200-19954400	ZNF genes & repeats	Liver	Liver
6	chr19:19951600-19953400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:19951800-19956600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:19953400-19954800	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr19:19953800-19955200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr19:19953800-19955400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:19954800-19967000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr19:19955400-19958800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:19956600-19957000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr19:19956600-19957200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:19956600-19957200	ZNF genes & repeats	Liver	Liver
16	chr19:19958600-19959400	Active TSS	Placenta	Placenta
17	chr19:19958600-19959600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr19:19958600-19966400	Weak transcription	Right Atrium	heart
19	chr19:19958800-19959000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
20	chr19:19958800-19959200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:19959000-19968800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:19959200-19960600	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:19959200-19971200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:19959400-19960200	Enhancers	Primary B cells from cord blood	blood
25	chr19:19960600-19962400	Weak transcription	Primary B cells from peripheral blood	blood

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