Variant report

Variant	nsv978845
Chromosome Location	chr19:53703091-53704553
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	chr19:53699014..53701688-chr19:53703459..53706126,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VN1R2-6	chr19:53703877-53703956	ENSG00000269051.1

Variant related genes	Relation type
ENSG00000269051	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574531718	chr19:53703130-53703131	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111298305	chr19:53703137-53703138	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6509734	chr19:53703139-53703140	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs114950664	chr19:53703151-53703152	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79727314	chr19:53703152-53703153	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192323304	chr19:53703165-53703166	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184576748	chr19:53703170-53703171	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531643786	chr19:53703209-53703210	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8101908	chr19:53703247-53703248	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375645931	chr19:53703251-53703252	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112535493	chr19:53703311-53703312	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528909768	chr19:53703318-53703319	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188954412	chr19:53703333-53703334	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565780247	chr19:53703354-53703355	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs8102940	chr19:53703356-53703357	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144988322	chr19:53703360-53703361	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112893900	chr19:53703368-53703369	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373727338	chr19:53703369-53703370	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112701445	chr19:53703397-53703398	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575012184	chr19:53703451-53703452	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367605052	chr19:53703489-53703490	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs34535235	chr19:53703623-53703624	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs184815074	chr19:53703630-53703631	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531490231	chr19:53703631-53703632	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374610393	chr19:53703663-53703664	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117789816	chr19:53703689-53703690	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564572022	chr19:53703711-53703712	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143137560	chr19:53703778-53703779	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189273816	chr19:53703781-53703782	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376245425	chr19:53703784-53703785	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs180882657	chr19:53703791-53703792	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529140735	chr19:53703832-53703833	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs17206931	chr19:53703876-53703877	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs565492782	chr19:53703886-53703887	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs185712621	chr19:53703904-53703905	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs551102492	chr19:53703946-53703947	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs550040294	chr19:53703948-53703949	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs199673227	chr19:53703989-53703990	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559860539	chr19:53703995-53703996	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538078281	chr19:53703996-53703997	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568583921	chr19:53703997-53703998	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs66639120	chr19:53703998-53703999	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556311700	chr19:53704031-53704032	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs568752738	chr19:53704038-53704039	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535734623	chr19:53704102-53704103	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554141787	chr19:53704133-53704134	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572397339	chr19:53704138-53704139	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs189355404	chr19:53704142-53704143	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558321400	chr19:53704159-53704160	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576575888	chr19:53704187-53704188	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53700800-53704000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
2	chr19:53700800-53708200	Weak transcription	Fetal Heart	heart
3	chr19:53700800-53709200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:53701000-53703600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:53701000-53704200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:53701000-53708800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:53701000-53709000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:53701000-53709200	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr19:53701000-53709600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:53701000-53710000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:53701200-53704600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:53701200-53705000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr19:53701200-53709600	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr19:53701200-53713200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:53701400-53703400	Weak transcription	Brain Substantia Nigra	brain
16	chr19:53701400-53703400	Weak transcription	Esophagus	oesophagus
17	chr19:53701400-53703400	Weak transcription	Left Ventricle	heart
18	chr19:53701400-53703400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:53701400-53703600	Weak transcription	Fetal Muscle Leg	muscle
20	chr19:53701400-53703600	Weak transcription	Thymus	Thymus
21	chr19:53701400-53704200	Weak transcription	Colon Smooth Muscle	Colon
22	chr19:53701400-53704400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:53701400-53704400	Weak transcription	NHDF-Ad	bronchial
24	chr19:53701400-53706600	Weak transcription	Fetal Kidney	kidney
25	chr19:53701400-53706600	Weak transcription	Psoas Muscle	Psoas
26	chr19:53701400-53706800	Weak transcription	Fetal Brain Male	brain
27	chr19:53701400-53707000	Weak transcription	Brain Germinal Matrix	brain
28	chr19:53701400-53708200	Weak transcription	Fetal Brain Female	brain
29	chr19:53701400-53709600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
30	chr19:53701400-53710200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
31	chr19:53701400-53715200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
32	chr19:53701600-53703400	Weak transcription	Fetal Stomach	stomach
33	chr19:53701600-53703400	Weak transcription	Pancreas	Pancrea
34	chr19:53701600-53703600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:53701600-53709200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:53701600-53710200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:53701600-53715400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
38	chr19:53701600-53720200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
39	chr19:53701600-53724800	ZNF genes & repeats	Liver	Liver
40	chr19:53701600-53725000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr19:53701600-53725000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr19:53701800-53703400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:53701800-53703400	Weak transcription	Gastric	stomach
44	chr19:53701800-53703600	Weak transcription	Dnd41	blood
45	chr19:53701800-53704200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:53701800-53709000	ZNF genes & repeats	Primary T cells from cord blood	blood
47	chr19:53701800-53718400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:53701800-53725400	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr19:53702000-53704400	Weak transcription	Brain Angular Gyrus	brain
50	chr19:53702000-53704400	Weak transcription	Brain Anterior Caudate	brain

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