Variant report

Variant	nsv135484
Chromosome Location	chr19:56906237-56906237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56902006..56908060-chr19:56909612..56917978,15	K562	blood:
2	chr19:56878056..56881655-chr19:56903333..56906269,5	K562	blood:
3	chr19:56902257..56906485-chr19:56913118..56917978,7	K562	blood:
4	chr19:56878151..56881655-chr19:56903333..56906269,7	K562	blood:
5	chr19:56896992..56902951-chr19:56903012..56907037,12	K562	blood:
6	chr19:56630391..56632820-chr19:56902199..56906311,3	K562	blood:
7	chr19:56825335..56828118-chr19:56903219..56906332,4	K562	blood:

Variant related genes	Relation type
ENSG00000267781	chromatin interactions
ENSG00000131848	chromatin interactions
ENSG00000267549	chromatin interactions
ENSG00000240225	chromatin interactions
ENSG00000267606	chromatin interactions
ENSG00000200646	chromatin interactions
ENSG00000142409	chromatin interactions
ENSG00000198440	chromatin interactions
ENSG00000267192	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 67 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141779200	chr19:56906237-56906238	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56900000-56906800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:56903600-56907000	ZNF genes & repeats	A549	lung
3	chr19:56905000-56913600	ZNF genes & repeats	Liver	Liver
4	chr19:56905200-56907000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:56905200-56907000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:56905400-56906400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:56905400-56909000	Weak transcription	Spleen	Spleen
8	chr19:56905400-56909200	Weak transcription	Ovary	ovary
9	chr19:56905400-56909400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:56905400-56910800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:56905400-56911000	Weak transcription	Stomach Mucosa	stomach
12	chr19:56905600-56906400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
13	chr19:56905600-56906600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr19:56905600-56906600	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr19:56905600-56906800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:56905600-56908400	Weak transcription	Primary T cells from cord blood	blood
17	chr19:56905600-56908400	Weak transcription	HSMMtube	muscle
18	chr19:56905600-56908800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:56905600-56909200	Weak transcription	Aorta	Aorta
20	chr19:56905600-56909400	Weak transcription	Brain Germinal Matrix	brain
21	chr19:56905600-56909400	Weak transcription	Brain Substantia Nigra	brain
22	chr19:56905600-56909400	Weak transcription	Fetal Brain Female	brain
23	chr19:56905600-56910000	Weak transcription	Fetal Brain Male	brain
24	chr19:56905600-56910200	Weak transcription	Fetal Kidney	kidney
25	chr19:56905600-56914600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr19:56905800-56906400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr19:56905800-56906400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:56905800-56907400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:56905800-56908600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:56905800-56908800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:56905800-56908800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr19:56905800-56908800	Weak transcription	Brain Hippocampus Middle	brain
33	chr19:56905800-56909000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr19:56905800-56909000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr19:56905800-56909000	Weak transcription	Fetal Muscle Leg	muscle
36	chr19:56905800-56909000	Weak transcription	Fetal Stomach	stomach
37	chr19:56905800-56909000	Weak transcription	Left Ventricle	heart
38	chr19:56905800-56909200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:56905800-56909200	Weak transcription	Colon Smooth Muscle	Colon
40	chr19:56905800-56909200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr19:56905800-56909200	Weak transcription	Fetal Lung	lung
42	chr19:56905800-56910000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr19:56905800-56914400	Weak transcription	Fetal Heart	heart
44	chr19:56906000-56906600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:56906000-56908800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:56906000-56908800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr19:56906000-56909400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:56906000-56909400	Weak transcription	Right Ventricle	heart
49	chr19:56906000-56910200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:56906000-56910200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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