Variant report

Variant	esv3318526
Chromosome Location	chr19:36839012-36844210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73602375	chr19:36839027-36839028	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377124124	chr19:36839045-36839046	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569045758	chr19:36839047-36839048	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533679982	chr19:36839099-36839100	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186746427	chr19:36839163-36839164	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73928796	chr19:36839231-36839232	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138922988	chr19:36839283-36839284	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577984603	chr19:36839293-36839294	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142851264	chr19:36839320-36839321	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189532983	chr19:36839364-36839365	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182118019	chr19:36839378-36839379	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536318950	chr19:36839403-36839404	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147432570	chr19:36839468-36839469	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138997851	chr19:36839481-36839482	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576201501	chr19:36839492-36839493	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565896739	chr19:36839581-36839582	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543587563	chr19:36839587-36839588	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185771492	chr19:36839588-36839589	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190378062	chr19:36839599-36839600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566949706	chr19:36839616-36839617	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs550965886	chr19:36839617-36839618	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs149887025	chr19:36839643-36839644	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs373504471	chr19:36839644-36839645	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548777813	chr19:36839657-36839658	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs567336019	chr19:36839674-36839675	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538075780	chr19:36839687-36839688	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs79785782	chr19:36839701-36839702	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs183286347	chr19:36839729-36839730	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs538887169	chr19:36839743-36839744	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs73602377	chr19:36839760-36839761	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs186081511	chr19:36839783-36839784	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567162694	chr19:36839784-36839785	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs201362565	chr19:36839831-36839832	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs536774737	chr19:36839909-36839910	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs34013984	chr19:36839930-36839931	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs558574478	chr19:36839956-36839957	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs191221400	chr19:36839958-36839959	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs62112626	chr19:36839962-36839963	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs556433588	chr19:36839982-36839983	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs182546848	chr19:36840032-36840033	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188410808	chr19:36840056-36840057	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs7343105	chr19:36840068-36840069	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs192639858	chr19:36840077-36840078	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs11470617	chr19:36840116-36840117	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs398101198	chr19:36840118-36840119	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs4806323	chr19:36840145-36840146	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs12983485	chr19:36840158-36840159	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs10410976	chr19:36840159-36840160	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs575452284	chr19:36840167-36840168	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs12983500	chr19:36840172-36840173	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36823800-36853600	ZNF genes & repeats	Liver	Liver
2	chr19:36826600-36840000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
3	chr19:36827200-36839800	ZNF genes & repeats	Primary T cells from cord blood	blood
4	chr19:36827200-36840000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:36827200-36841600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr19:36827200-36844200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:36827200-36862200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:36827400-36839800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
9	chr19:36827400-36840000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
10	chr19:36827400-36843400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
11	chr19:36830600-36869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:36831400-36840000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
13	chr19:36831600-36839600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
14	chr19:36832200-36849600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:36832200-36868600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:36832400-36847000	Weak transcription	Brain Anterior Caudate	brain
17	chr19:36832400-36851400	Weak transcription	Fetal Brain Male	brain
18	chr19:36832600-36849600	Weak transcription	Fetal Heart	heart
19	chr19:36832800-36849000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:36833400-36839600	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr19:36833400-36840000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr19:36833600-36839800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:36833600-36839800	Strong transcription	Left Ventricle	heart
24	chr19:36833800-36840200	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr19:36834000-36845200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr19:36834000-36857400	Weak transcription	Brain Substantia Nigra	brain
27	chr19:36834200-36868800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:36834400-36849600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:36834600-36839600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:36834600-36840000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:36834600-36840000	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr19:36834800-36839600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr19:36834800-36839800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:36835400-36839200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
35	chr19:36835400-36841000	ZNF genes & repeats	Lung	lung
36	chr19:36835800-36839600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
37	chr19:36835800-36847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:36835800-36857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr19:36835800-36868800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr19:36836200-36839200	Weak transcription	Right Ventricle	heart
41	chr19:36836400-36847400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:36836400-36858400	Weak transcription	Osteobl	bone
43	chr19:36836400-36868000	Weak transcription	Psoas Muscle	Psoas
44	chr19:36836600-36840000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:36836600-36842200	Weak transcription	Fetal Kidney	kidney
46	chr19:36836600-36843800	Weak transcription	Brain Hippocampus Middle	brain
47	chr19:36836600-36845600	Weak transcription	Brain Germinal Matrix	brain
48	chr19:36836600-36849800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:36836600-36849800	Weak transcription	Colonic Mucosa	Colon
50	chr19:36836600-36857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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