Variant report

Variant	nsv579431
Chromosome Location	chr19:36843126-36846993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10420071	chr19:36843126-36843127	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548307655	chr19:36843298-36843299	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191922249	chr19:36843375-36843376	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558482971	chr19:36843387-36843388	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569618179	chr19:36843498-36843499	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs181018429	chr19:36843531-36843532	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs186043628	chr19:36843545-36843546	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190898123	chr19:36843566-36843567	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs534299213	chr19:36843570-36843571	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs553065348	chr19:36843591-36843592	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs11882671	chr19:36843615-36843616	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs182716181	chr19:36843629-36843630	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556688449	chr19:36843649-36843650	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556795404	chr19:36843669-36843670	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138781526	chr19:36843671-36843672	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186995987	chr19:36843699-36843700	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190818975	chr19:36843700-36843701	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182998144	chr19:36843760-36843761	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528516701	chr19:36843766-36843767	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540249580	chr19:36843791-36843792	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542400408	chr19:36843798-36843799	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189190863	chr19:36843800-36843801	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193057745	chr19:36843817-36843818	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572931514	chr19:36843828-36843829	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529403535	chr19:36843829-36843830	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139917693	chr19:36843834-36843835	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35784696	chr19:36843843-36843844	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397859942	chr19:36843858-36843859	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551199841	chr19:36844081-36844082	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10402043	chr19:36844092-36844093	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs533689305	chr19:36844097-36844098	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552077958	chr19:36844142-36844143	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567035334	chr19:36844205-36844206	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369514797	chr19:36844260-36844261	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534653406	chr19:36844324-36844325	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142812730	chr19:36844368-36844369	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185562340	chr19:36844369-36844370	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544466363	chr19:36844380-36844381	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567815667	chr19:36844394-36844395	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187637943	chr19:36844395-36844396	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528638520	chr19:36844458-36844459	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191115188	chr19:36844472-36844473	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575069294	chr19:36844551-36844552	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553775055	chr19:36844599-36844600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35323856	chr19:36844617-36844618	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545574206	chr19:36844641-36844642	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147005552	chr19:36844651-36844652	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532120717	chr19:36844676-36844677	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs36000557	chr19:36844684-36844685	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs562789223	chr19:36844700-36844701	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:173 , 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	chr19:36827400-36843400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
5	chr19:36830600-36869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:36832200-36849600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:36832200-36868600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:36832400-36847000	Weak transcription	Brain Anterior Caudate	brain
9	chr19:36832400-36851400	Weak transcription	Fetal Brain Male	brain
10	chr19:36832600-36849600	Weak transcription	Fetal Heart	heart
11	chr19:36832800-36849000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:36834000-36845200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:36834000-36857400	Weak transcription	Brain Substantia Nigra	brain
14	chr19:36834200-36868800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr19:36834400-36849600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:36835800-36847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:36835800-36857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr19:36835800-36868800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr19:36836400-36847400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:36836400-36858400	Weak transcription	Osteobl	bone
21	chr19:36836400-36868000	Weak transcription	Psoas Muscle	Psoas
22	chr19:36836600-36843800	Weak transcription	Brain Hippocampus Middle	brain
23	chr19:36836600-36845600	Weak transcription	Brain Germinal Matrix	brain
24	chr19:36836600-36849800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr19:36836600-36849800	Weak transcription	Colonic Mucosa	Colon
26	chr19:36836600-36857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:36836600-36863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr19:36836800-36849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:36837000-36852600	Strong transcription	Fetal Stomach	stomach
30	chr19:36838000-36844000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:36838000-36847200	Weak transcription	Brain Angular Gyrus	brain
32	chr19:36838000-36849600	Weak transcription	Small Intestine	intestine
33	chr19:36838000-36851200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:36838000-36851200	Weak transcription	HepG2	liver
35	chr19:36838000-36868600	Weak transcription	Stomach Mucosa	stomach
36	chr19:36838200-36847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:36838200-36849400	Weak transcription	Colon Smooth Muscle	Colon
38	chr19:36838200-36855000	Weak transcription	HSMM	muscle
39	chr19:36838400-36847400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr19:36838600-36850400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr19:36839200-36847200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr19:36839200-36848000	Strong transcription	Stomach Smooth Muscle	stomach
43	chr19:36839400-36847400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:36839400-36849600	Weak transcription	Gastric	stomach
45	chr19:36839400-36851200	Weak transcription	HSMMtube	muscle
46	chr19:36839600-36845600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr19:36839600-36846600	Weak transcription	Primary B cells from cord blood	blood
48	chr19:36839600-36849600	Weak transcription	Pancreas	Pancrea
49	chr19:36839800-36843800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:36839800-36847200	Weak transcription	Primary T cells from cord blood	blood

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