Variant report

Variant	nsv978810
Chromosome Location	chr19:37298314-37306437
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	chr19:37288230..37290127-chr19:37296601..37299448,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF345-1	chr19:37303412-37303508	ENSG00000267254.1

Variant related genes	Relation type
ENSG00000267254	chromatin interactions

Extended variants
information (count: 237 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:237 , 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	rs546992914	chr19:37298321-37298322	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs77403823	chr19:37298389-37298390	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79767781	chr19:37298424-37298425	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187048893	chr19:37298444-37298445	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191043416	chr19:37298458-37298459	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559325736	chr19:37298462-37298463	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146327829	chr19:37298632-37298633	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559087237	chr19:37298665-37298666	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577417002	chr19:37298666-37298667	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1227798	chr19:37298700-37298701	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147909614	chr19:37298710-37298711	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574809375	chr19:37298803-37298804	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542135287	chr19:37298841-37298842	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182125401	chr19:37298863-37298864	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187323228	chr19:37298875-37298876	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190239111	chr19:37298932-37298933	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545681820	chr19:37298980-37298981	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs183139641	chr19:37299017-37299018	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs141613254	chr19:37299026-37299027	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377119995	chr19:37299041-37299042	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559070986	chr19:37299073-37299074	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs74174436	chr19:37299076-37299077	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs578079414	chr19:37299111-37299112	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188607240	chr19:37299112-37299113	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569977355	chr19:37299134-37299135	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs1227864	chr19:37299164-37299165	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs76648210	chr19:37299186-37299187	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570922128	chr19:37299193-37299194	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531332386	chr19:37299213-37299214	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535103911	chr19:37299242-37299243	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141733447	chr19:37299262-37299263	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377653670	chr19:37299308-37299309	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77394642	chr19:37299331-37299332	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184153528	chr19:37299350-37299351	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557329939	chr19:37299370-37299371	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs575897784	chr19:37299398-37299399	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs1227863	chr19:37299414-37299415	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188578951	chr19:37299417-37299418	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs10420413	chr19:37299428-37299429	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs199745402	chr19:37299477-37299478	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540704929	chr19:37299515-37299516	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62114319	chr19:37299523-37299524	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191307777	chr19:37299541-37299542	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529650491	chr19:37299573-37299574	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541821098	chr19:37299608-37299609	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563405470	chr19:37299623-37299624	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530839800	chr19:37299664-37299665	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115724488	chr19:37299673-37299674	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117864277	chr19:37299718-37299719	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528339825	chr19:37299846-37299847	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37287400-37327400	ZNF genes & repeats	Liver	Liver
2	chr19:37289000-37309200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:37289200-37300600	Weak transcription	Right Ventricle	heart
4	chr19:37289200-37301600	Weak transcription	HSMMtube	muscle
5	chr19:37289200-37327000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:37289400-37327600	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:37289600-37301000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:37289600-37302200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr19:37289600-37302200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:37289600-37327400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:37289600-37327400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr19:37290000-37301800	Weak transcription	Fetal Heart	heart
13	chr19:37291600-37298800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:37292000-37303400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:37292000-37328400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr19:37292200-37299400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:37292200-37309400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:37293400-37302200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:37293400-37325600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr19:37293600-37325000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr19:37294000-37304200	Weak transcription	HSMM	muscle
22	chr19:37294800-37303800	Weak transcription	Osteobl	bone
23	chr19:37295000-37327200	ZNF genes & repeats	Fetal Lung	lung
24	chr19:37295600-37324800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr19:37295600-37327200	ZNF genes & repeats	Fetal Brain Female	brain
26	chr19:37295800-37307600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:37296000-37299800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:37296200-37305200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:37296400-37300000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr19:37296400-37300800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:37296400-37308200	ZNF genes & repeats	Brain Hippocampus Middle	brain
32	chr19:37296600-37299400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr19:37296600-37299800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:37297000-37299800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:37297000-37299800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:37297000-37300200	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr19:37297000-37301200	ZNF genes & repeats	Fetal Intestine Large	intestine
38	chr19:37297200-37300000	ZNF genes & repeats	Colon Smooth Muscle	Colon
39	chr19:37297400-37299000	Strong transcription	Left Ventricle	heart
40	chr19:37297400-37299600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:37297600-37298600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:37297800-37298800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
43	chr19:37298000-37298600	Strong transcription	Placenta	Placenta
44	chr19:37298000-37299800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
45	chr19:37298000-37299800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
46	chr19:37298000-37300000	ZNF genes & repeats	Brain Anterior Caudate	brain
47	chr19:37298000-37300600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
48	chr19:37298200-37299200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:37298200-37299600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr19:37298200-37299600	ZNF genes & repeats	Brain Angular Gyrus	brain

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