Variant report

Variant	esv991692
Chromosome Location	chr19:56610008-56610084
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56606614..56610711-chr19:56622862..56625649,3	MCF-7	breast:
2	chr19:56609509..56612797-chr19:56648982..56652625,3	K562	blood:
3	chr19:56609156..56614023-chr19:56614843..56617057,5	K562	blood:
4	chr19:56606956..56610411-chr19:56610787..56614898,5	K562	blood:
5	chr19:56589626..56592403-chr19:56608296..56610728,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142409	chromatin interactions
ENSG00000223060	chromatin interactions
ENSG00000167685	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76295320	chr19:56610009-56610010	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs76633823	chr19:56610026-56610027	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs536991593	chr19:56610028-56610029	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs79852613	chr19:56610038-56610039	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs112868821	chr19:56610045-56610046	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs537491332	chr19:56610046-56610047	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs80081020	chr19:56610068-56610069	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs78772566	chr19:56610076-56610077	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs143759173	chr19:56610083-56610084	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56592600-56620000	Weak transcription	HSMMtube	muscle
2	chr19:56592800-56622600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:56593000-56616200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:56593000-56616600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:56593000-56616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr19:56593000-56631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr19:56593600-56616000	Weak transcription	Stomach Mucosa	stomach
8	chr19:56594800-56616800	Weak transcription	HUVEC	blood vessel
9	chr19:56596600-56614800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:56597200-56619400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:56599800-56615200	Strong transcription	Liver	Liver
12	chr19:56600000-56619000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:56600400-56614400	Strong transcription	HepG2	liver
14	chr19:56600800-56616800	Weak transcription	Small Intestine	intestine
15	chr19:56601400-56612000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:56601600-56611800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr19:56602600-56610200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr19:56602800-56614400	ZNF genes & repeats	Fetal Stomach	stomach
19	chr19:56602800-56620000	Weak transcription	NH-A	brain
20	chr19:56603000-56616600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr19:56603200-56612400	Weak transcription	Osteobl	bone
22	chr19:56603200-56619800	Weak transcription	NHDF-Ad	bronchial
23	chr19:56603800-56612200	Weak transcription	Brain Substantia Nigra	brain
24	chr19:56603800-56616800	Weak transcription	Psoas Muscle	Psoas
25	chr19:56604000-56614800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr19:56604200-56611600	Weak transcription	Brain Hippocampus Middle	brain
27	chr19:56604800-56616200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:56604800-56616800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:56605000-56612200	Weak transcription	Aorta	Aorta
30	chr19:56605000-56612600	Weak transcription	HMEC	breast
31	chr19:56605000-56614400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr19:56605000-56615000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:56605000-56616400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:56605200-56610200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:56605200-56610800	Weak transcription	Primary B cells from cord blood	blood
36	chr19:56605200-56615000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:56605200-56615000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:56605200-56617000	Weak transcription	Brain Angular Gyrus	brain
39	chr19:56605200-56619800	Weak transcription	HSMM	muscle
40	chr19:56605200-56620000	Weak transcription	Fetal Kidney	kidney
41	chr19:56605400-56610400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:56605400-56612600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:56605400-56615000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr19:56605600-56615000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:56605600-56615000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:56606000-56615800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:56606200-56611200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:56606200-56612400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:56606200-56614200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr19:56606200-56615000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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