Variant report

Variant	esv3495117
Chromosome Location	chr19:36840654-36847281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 209 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547347095	chr19:36840726-36840727	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs565943282	chr19:36840735-36840736	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs370664810	chr19:36840825-36840826	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367875651	chr19:36840869-36840870	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146594799	chr19:36840878-36840879	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569817974	chr19:36840887-36840888	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191998008	chr19:36840947-36840948	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113461246	chr19:36841042-36841043	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12462657	chr19:36841043-36841044	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs375034836	chr19:36841049-36841050	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74174404	chr19:36841051-36841052	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184923164	chr19:36841163-36841164	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541589017	chr19:36841246-36841247	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553422450	chr19:36841276-36841277	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190367126	chr19:36841281-36841282	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77443502	chr19:36841358-36841359	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560823824	chr19:36841379-36841380	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10425250	chr19:36841394-36841395	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113902620	chr19:36841412-36841413	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192795901	chr19:36841424-36841425	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184257943	chr19:36841425-36841426	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532236387	chr19:36841444-36841445	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547554950	chr19:36841462-36841463	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114260268	chr19:36841484-36841485	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202063596	chr19:36841511-36841512	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529952897	chr19:36841520-36841521	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548300870	chr19:36841549-36841550	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569679146	chr19:36841636-36841637	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189947473	chr19:36841724-36841725	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552279957	chr19:36841785-36841786	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570594568	chr19:36841799-36841800	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534944690	chr19:36841868-36841869	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181343318	chr19:36841899-36841900	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575037081	chr19:36841986-36841987	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183851324	chr19:36842046-36842047	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536107567	chr19:36842230-36842231	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376600407	chr19:36842244-36842245	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375149206	chr19:36842258-36842259	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367934060	chr19:36842260-36842261	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371749264	chr19:36842271-36842272	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375837341	chr19:36842281-36842282	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368804844	chr19:36842293-36842294	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372642180	chr19:36842294-36842295	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375555364	chr19:36842295-36842296	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558830722	chr19:36842301-36842302	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188966463	chr19:36842302-36842303	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368299561	chr19:36842318-36842319	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576080919	chr19:36842374-36842375	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10414175	chr19:36842396-36842397	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565008404	chr19:36842486-36842487	Weak transcription ZNF genes & repeats Strong transcription	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:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36823800-36853600	ZNF genes & repeats	Liver	Liver
2	chr19:36827200-36841600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
3	chr19:36827200-36844200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:36827200-36862200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:36827400-36843400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
6	chr19:36830600-36869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:36832200-36849600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:36832200-36868600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:36832400-36847000	Weak transcription	Brain Anterior Caudate	brain
10	chr19:36832400-36851400	Weak transcription	Fetal Brain Male	brain
11	chr19:36832600-36849600	Weak transcription	Fetal Heart	heart
12	chr19:36832800-36849000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:36834000-36845200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:36834000-36857400	Weak transcription	Brain Substantia Nigra	brain
15	chr19:36834200-36868800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr19:36834400-36849600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:36835400-36841000	ZNF genes & repeats	Lung	lung
18	chr19:36835800-36847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:36835800-36857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:36835800-36868800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr19:36836400-36847400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:36836400-36858400	Weak transcription	Osteobl	bone
23	chr19:36836400-36868000	Weak transcription	Psoas Muscle	Psoas
24	chr19:36836600-36842200	Weak transcription	Fetal Kidney	kidney
25	chr19:36836600-36843800	Weak transcription	Brain Hippocampus Middle	brain
26	chr19:36836600-36845600	Weak transcription	Brain Germinal Matrix	brain
27	chr19:36836600-36849800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr19:36836600-36849800	Weak transcription	Colonic Mucosa	Colon
29	chr19:36836600-36857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:36836600-36863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr19:36836800-36849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr19:36837000-36852600	Strong transcription	Fetal Stomach	stomach
33	chr19:36837400-36840800	ZNF genes & repeats	Thymus	Thymus
34	chr19:36838000-36844000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr19:36838000-36847200	Weak transcription	Brain Angular Gyrus	brain
36	chr19:36838000-36849600	Weak transcription	Small Intestine	intestine
37	chr19:36838000-36851200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr19:36838000-36851200	Weak transcription	HepG2	liver
39	chr19:36838000-36868600	Weak transcription	Stomach Mucosa	stomach
40	chr19:36838200-36841600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:36838200-36842600	Weak transcription	Fetal Brain Female	brain
42	chr19:36838200-36847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:36838200-36849400	Weak transcription	Colon Smooth Muscle	Colon
44	chr19:36838200-36855000	Weak transcription	HSMM	muscle
45	chr19:36838400-36847400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:36838600-36850400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr19:36839200-36847200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr19:36839200-36848000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr19:36839400-36847400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:36839400-36849600	Weak transcription	Gastric	stomach

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