Variant report

Variant	nsv579459
Chromosome Location	chr19:36845537-36856379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36848342..36851339-chr19:37018243..37021228,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254004	chromatin interactions
ENSG00000228629	chromatin interactions

Extended variants
information (count: 376 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552274007	chr19:36845566-36845567	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533806268	chr19:36845601-36845602	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs555753378	chr19:36845665-36845666	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574111294	chr19:36845669-36845670	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544599925	chr19:36845671-36845672	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs11878842	chr19:36845677-36845678	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs563008718	chr19:36845694-36845695	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569626991	chr19:36845730-36845731	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs181659158	chr19:36845854-36845855	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs577447527	chr19:36845860-36845861	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs545583541	chr19:36845904-36845905	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs538224814	chr19:36846030-36846031	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs560438175	chr19:36846101-36846102	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs374120250	chr19:36846178-36846179	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs35840887	chr19:36846183-36846184	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370519409	chr19:36846221-36846222	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs150520375	chr19:36846248-36846249	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs528893999	chr19:36846315-36846316	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs550151878	chr19:36846320-36846321	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs371089511	chr19:36846347-36846348	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs71354193	chr19:36846348-36846349	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572292868	chr19:36846355-36846356	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs551562313	chr19:36846390-36846391	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs116837628	chr19:36846417-36846418	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs533967712	chr19:36846420-36846421	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs138244760	chr19:36846456-36846457	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs555732313	chr19:36846500-36846501	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs139467846	chr19:36846524-36846525	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs369384841	chr19:36846627-36846628	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369442100	chr19:36846632-36846633	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs13346906	chr19:36846642-36846643	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555532306	chr19:36846651-36846652	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs535780172	chr19:36846751-36846752	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs184271810	chr19:36846783-36846784	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs573451988	chr19:36846832-36846833	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs578054967	chr19:36846841-36846842	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs541842965	chr19:36846845-36846846	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs545135247	chr19:36846851-36846852	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs554305086	chr19:36846912-36846913	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs560761381	chr19:36846935-36846936	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs146220092	chr19:36846993-36846994	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs35936731	chr19:36847058-36847059	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs368093625	chr19:36847099-36847100	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs10403750	chr19:36847180-36847181	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs113974143	chr19:36847302-36847303	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531880571	chr19:36847305-36847306	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552341004	chr19:36847328-36847329	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543809706	chr19:36847351-36847352	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562104394	chr19:36847355-36847356	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371817250	chr19:36847367-36847368	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:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36823800-36853600	ZNF genes & repeats	Liver	Liver
2	chr19:36827200-36862200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:36830600-36869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:36832200-36849600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:36832200-36868600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:36832400-36847000	Weak transcription	Brain Anterior Caudate	brain
7	chr19:36832400-36851400	Weak transcription	Fetal Brain Male	brain
8	chr19:36832600-36849600	Weak transcription	Fetal Heart	heart
9	chr19:36832800-36849000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:36834000-36857400	Weak transcription	Brain Substantia Nigra	brain
11	chr19:36834200-36868800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr19:36834400-36849600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:36835800-36847400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:36835800-36857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:36835800-36868800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr19:36836400-36847400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:36836400-36858400	Weak transcription	Osteobl	bone
18	chr19:36836400-36868000	Weak transcription	Psoas Muscle	Psoas
19	chr19:36836600-36845600	Weak transcription	Brain Germinal Matrix	brain
20	chr19:36836600-36849800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:36836600-36849800	Weak transcription	Colonic Mucosa	Colon
22	chr19:36836600-36857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:36836600-36863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:36836800-36849800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:36837000-36852600	Strong transcription	Fetal Stomach	stomach
26	chr19:36838000-36847200	Weak transcription	Brain Angular Gyrus	brain
27	chr19:36838000-36849600	Weak transcription	Small Intestine	intestine
28	chr19:36838000-36851200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:36838000-36851200	Weak transcription	HepG2	liver
30	chr19:36838000-36868600	Weak transcription	Stomach Mucosa	stomach
31	chr19:36838200-36847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:36838200-36849400	Weak transcription	Colon Smooth Muscle	Colon
33	chr19:36838200-36855000	Weak transcription	HSMM	muscle
34	chr19:36838400-36847400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:36838600-36850400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr19:36839200-36847200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr19:36839200-36848000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr19:36839400-36847400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:36839400-36849600	Weak transcription	Gastric	stomach
40	chr19:36839400-36851200	Weak transcription	HSMMtube	muscle
41	chr19:36839600-36845600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:36839600-36846600	Weak transcription	Primary B cells from cord blood	blood
43	chr19:36839600-36849600	Weak transcription	Pancreas	Pancrea
44	chr19:36839800-36847200	Weak transcription	Primary T cells from cord blood	blood
45	chr19:36839800-36847200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:36839800-36847200	Weak transcription	Left Ventricle	heart
47	chr19:36839800-36847400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:36839800-36847400	Weak transcription	Dnd41	blood
49	chr19:36839800-36848000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr19:36839800-36848400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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