Variant report

Variant	nsv961227
Chromosome Location	chr19:44652941-44654566
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	chr19:44654497..44656036-chr19:44666513..44669314,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF225-1	chr19:44652924-44652964	NONHSAT066671

Variant related genes	Relation type
ENSG00000167380	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76244995	chr19:44652952-44652953	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
2	rs2293587	chr19:44652954-44652955	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs368405532	chr19:44652977-44652978	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs201162038	chr19:44652980-44652981	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373117172	chr19:44652997-44652998	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs547154147	chr19:44653038-44653039	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs371472588	chr19:44653078-44653079	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113757822	chr19:44653084-44653085	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs548818218	chr19:44653085-44653086	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs182403374	chr19:44653115-44653116	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs537656924	chr19:44653118-44653119	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs568599489	chr19:44653143-44653144	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs188064720	chr19:44653144-44653145	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs556294321	chr19:44653409-44653410	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs76045815	chr19:44653436-44653437	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs551950104	chr19:44653477-44653478	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571747103	chr19:44653492-44653493	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs192968010	chr19:44653514-44653515	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs574660949	chr19:44653515-44653516	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs553106257	chr19:44653520-44653521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs573057454	chr19:44653548-44653549	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs374236601	chr19:44653564-44653565	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535701193	chr19:44653593-44653594	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs367603326	chr19:44653608-44653609	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142812294	chr19:44653625-44653626	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs574944344	chr19:44653653-44653654	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs4803685	chr19:44653681-44653682	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs143283769	chr19:44653715-44653716	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs577631203	chr19:44653792-44653793	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs185102060	chr19:44653880-44653881	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs188815804	chr19:44653890-44653891	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs192511428	chr19:44653906-44653907	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs10423177	chr19:44653908-44653909	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529567999	chr19:44653958-44653959	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs543383386	chr19:44653977-44653978	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs184931503	chr19:44653981-44653982	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs370334824	chr19:44654047-44654048	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs371128919	chr19:44654096-44654097	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs563170964	chr19:44654149-44654150	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531766028	chr19:44654159-44654160	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545745134	chr19:44654171-44654172	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs148326953	chr19:44654183-44654184	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs527737939	chr19:44654193-44654194	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs564641598	chr19:44654196-44654197	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs546487484	chr19:44654215-44654216	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs2356752	chr19:44654227-44654228	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141495571	chr19:44654231-44654232	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs371253928	chr19:44654232-44654233	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs10423715	chr19:44654243-44654244	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537460770	chr19:44654256-44654257	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44646600-44653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:44646800-44653800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr19:44646800-44656600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:44646800-44657800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:44646800-44660200	Weak transcription	Stomach Mucosa	stomach
6	chr19:44647000-44654200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:44647000-44655600	Weak transcription	HUVEC	blood vessel
8	chr19:44647000-44660200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:44647000-44660200	Weak transcription	Hela-S3	cervix
10	chr19:44647000-44660400	Weak transcription	Fetal Heart	heart
11	chr19:44647600-44655800	Weak transcription	Fetal Brain Male	brain
12	chr19:44647800-44668400	ZNF genes & repeats	Liver	Liver
13	chr19:44648200-44656400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr19:44648200-44657600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:44648200-44658200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:44648200-44660000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:44648400-44654600	Strong transcription	Aorta	Aorta
18	chr19:44648400-44654600	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr19:44648400-44656000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr19:44648400-44656000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr19:44648400-44656000	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr19:44648400-44656400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:44648400-44657200	Strong transcription	Brain Germinal Matrix	brain
24	chr19:44648400-44658000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:44648400-44658800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:44648400-44658800	Strong transcription	Fetal Muscle Leg	muscle
27	chr19:44648400-44659400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:44648400-44660000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:44648400-44660000	Strong transcription	Placenta	Placenta
30	chr19:44648400-44660400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:44648400-44663200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
32	chr19:44648600-44655800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:44648600-44656200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr19:44648600-44656600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:44648600-44656800	Strong transcription	Brain Substantia Nigra	brain
36	chr19:44648600-44657200	Strong transcription	Thymus	Thymus
37	chr19:44648600-44658600	Strong transcription	Brain Anterior Caudate	brain
38	chr19:44648600-44658600	Strong transcription	Rectal Smooth Muscle	rectum
39	chr19:44648600-44658800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:44648600-44659000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr19:44648600-44659000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr19:44648600-44659000	Strong transcription	Dnd41	blood
43	chr19:44648600-44659400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr19:44648600-44659600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:44648600-44659800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:44648600-44660000	Strong transcription	Left Ventricle	heart
47	chr19:44648600-44660200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:44648600-44660200	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr19:44648600-44661800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr19:44648800-44658000	Strong transcription	Primary T cells fromperipheralblood	blood

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