Variant report

Variant	esv3498921
Chromosome Location	chr19:19349786-19351956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568546070	chr19:19349885-19349886	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs530999295	chr19:19349896-19349897	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs551111595	chr19:19349897-19349898	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs530559910	chr19:19349916-19349917	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs28393849	chr19:19349917-19349918	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546976142	chr19:19349934-19349935	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs541359565	chr19:19349960-19349961	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs28541794	chr19:19349971-19349972	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs35794702	chr19:19349980-19349981	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs369626698	chr19:19350007-19350008	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139914852	chr19:19350059-19350060	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72999016	chr19:19350103-19350104	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563246538	chr19:19350130-19350131	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537505081	chr19:19350180-19350181	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34327348	chr19:19350195-19350196	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374122753	chr19:19350201-19350202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80310067	chr19:19350212-19350213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577562168	chr19:19350268-19350269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28628330	chr19:19350335-19350336	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560171565	chr19:19350345-19350346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573907387	chr19:19350374-19350375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552106033	chr19:19350382-19350383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542965989	chr19:19350404-19350405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111067287	chr19:19350417-19350418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528376515	chr19:19350421-19350422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548552878	chr19:19350435-19350436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551048253	chr19:19350447-19350448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111212043	chr19:19350488-19350489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564620029	chr19:19350560-19350561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111067288	chr19:19350634-19350635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111067289	chr19:19350635-19350636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550157730	chr19:19350638-19350639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191784036	chr19:19350641-19350642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577522139	chr19:19350689-19350690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549273380	chr19:19350714-19350715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200560321	chr19:19350792-19350793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147857567	chr19:19350805-19350806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565078170	chr19:19350813-19350814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538974680	chr19:19350832-19350833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141703078	chr19:19350833-19350834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369622057	chr19:19350834-19350835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557420734	chr19:19350848-19350849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577702151	chr19:19350954-19350955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533531597	chr19:19350987-19350988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553700796	chr19:19350993-19350994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573571824	chr19:19351005-19351006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542904553	chr19:19351088-19351089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537809857	chr19:19351141-19351142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562774640	chr19:19351154-19351155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576303208	chr19:19351173-19351174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	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
Ewing''s sarcoma	21437220	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
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	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
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19345800-19359200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr19:19345800-19359600	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:19345800-19360400	Weak transcription	Brain Angular Gyrus	brain
4	chr19:19346000-19351000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:19346000-19352200	Weak transcription	Brain Substantia Nigra	brain
6	chr19:19346000-19353000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:19346000-19359400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:19346000-19363200	Strong transcription	Fetal Brain Female	brain
9	chr19:19346000-19367000	Weak transcription	Brain Anterior Caudate	brain
10	chr19:19347200-19353800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:19347400-19353800	Strong transcription	Brain Germinal Matrix	brain
12	chr19:19347400-19367200	Weak transcription	Fetal Brain Male	brain
13	chr19:19347600-19351200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:19348800-19350200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:19349800-19350000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:19350200-19351200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:19351000-19352000	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr19:19351200-19351400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:19351200-19351400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
20	chr19:19351200-19352400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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