Variant report

Variant	esv1837691
Chromosome Location	chr19:36844092-36846993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10402043	chr19:36844092-36844093	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533689305	chr19:36844097-36844098	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552077958	chr19:36844142-36844143	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567035334	chr19:36844205-36844206	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369514797	chr19:36844260-36844261	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534653406	chr19:36844324-36844325	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142812730	chr19:36844368-36844369	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185562340	chr19:36844369-36844370	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544466363	chr19:36844380-36844381	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567815667	chr19:36844394-36844395	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187637943	chr19:36844395-36844396	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528638520	chr19:36844458-36844459	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191115188	chr19:36844472-36844473	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575069294	chr19:36844551-36844552	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553775055	chr19:36844599-36844600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35323856	chr19:36844617-36844618	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545574206	chr19:36844641-36844642	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147005552	chr19:36844651-36844652	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532120717	chr19:36844676-36844677	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs36000557	chr19:36844684-36844685	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs562789223	chr19:36844700-36844701	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184164145	chr19:36844837-36844838	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386808998	chr19:36844848-36844849	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529422349	chr19:36844849-36844850	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544689666	chr19:36844850-36844851	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562947280	chr19:36844865-36844866	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557547202	chr19:36844868-36844869	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536251097	chr19:36844878-36844879	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551670591	chr19:36844881-36844882	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560885882	chr19:36844935-36844936	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59933117	chr19:36844974-36844975	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554577474	chr19:36844975-36844976	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533785152	chr19:36844977-36844978	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34807802	chr19:36844993-36844994	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188518585	chr19:36845174-36845175	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59201093	chr19:36845203-36845204	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567686702	chr19:36845210-36845211	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11881715	chr19:36845268-36845269	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs58651628	chr19:36845288-36845289	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59284680	chr19:36845289-36845290	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550290768	chr19:36845437-36845438	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568597960	chr19:36845461-36845462	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539660606	chr19:36845486-36845487	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566339075	chr19:36845488-36845489	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60043543	chr19:36845508-36845509	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527744785	chr19:36845515-36845516	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559111899	chr19:36845517-36845518	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549561393	chr19:36845522-36845523	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552274007	chr19:36845566-36845567	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533806268	chr19:36845601-36845602	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:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36823800-36853600	ZNF genes & repeats	Liver	Liver
2	chr19:36827200-36844200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:36827200-36862200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:36830600-36869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:36832200-36849600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:36832200-36868600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:36832400-36847000	Weak transcription	Brain Anterior Caudate	brain
8	chr19:36832400-36851400	Weak transcription	Fetal Brain Male	brain
9	chr19:36832600-36849600	Weak transcription	Fetal Heart	heart
10	chr19:36832800-36849000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:36834000-36845200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:36834000-36857400	Weak transcription	Brain Substantia Nigra	brain
13	chr19:36834200-36868800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:36834400-36849600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:36835800-36847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:36835800-36857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:36835800-36868800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr19:36836400-36847400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:36836400-36858400	Weak transcription	Osteobl	bone
20	chr19:36836400-36868000	Weak transcription	Psoas Muscle	Psoas
21	chr19:36836600-36845600	Weak transcription	Brain Germinal Matrix	brain
22	chr19:36836600-36849800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:36836600-36849800	Weak transcription	Colonic Mucosa	Colon
24	chr19:36836600-36857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:36836600-36863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr19:36836800-36849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:36837000-36852600	Strong transcription	Fetal Stomach	stomach
28	chr19:36838000-36847200	Weak transcription	Brain Angular Gyrus	brain
29	chr19:36838000-36849600	Weak transcription	Small Intestine	intestine
30	chr19:36838000-36851200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:36838000-36851200	Weak transcription	HepG2	liver
32	chr19:36838000-36868600	Weak transcription	Stomach Mucosa	stomach
33	chr19:36838200-36847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:36838200-36849400	Weak transcription	Colon Smooth Muscle	Colon
35	chr19:36838200-36855000	Weak transcription	HSMM	muscle
36	chr19:36838400-36847400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr19:36838600-36850400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr19:36839200-36847200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr19:36839200-36848000	Strong transcription	Stomach Smooth Muscle	stomach
40	chr19:36839400-36847400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:36839400-36849600	Weak transcription	Gastric	stomach
42	chr19:36839400-36851200	Weak transcription	HSMMtube	muscle
43	chr19:36839600-36845600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr19:36839600-36846600	Weak transcription	Primary B cells from cord blood	blood
45	chr19:36839600-36849600	Weak transcription	Pancreas	Pancrea
46	chr19:36839800-36847200	Weak transcription	Primary T cells from cord blood	blood
47	chr19:36839800-36847200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:36839800-36847200	Weak transcription	Left Ventricle	heart
49	chr19:36839800-36847400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:36839800-36847400	Weak transcription	Dnd41	blood

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