Variant report

Variant	esv3382613
Chromosome Location	chr19:56646023-56646222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56644274..56647215-chr19:56650542..56653019,3	MCF-7	breast:
2	chr19:56637204..56640116-chr19:56644041..56647745,4	K562	blood:
3	chr19:56632432..56634662-chr19:56644261..56647544,4	MCF-7	breast:
4	chr19:56645494..56648781-chr19:56650139..56653742,5	K562	blood:
5	chr19:56642703..56647128-chr19:56651543..56655262,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142409	chromatin interactions
ENSG00000167685	chromatin interactions

Extended variants
information (count: 5 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569464747	chr19:56646077-56646078	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2631627	chr19:56646082-56646083	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs193149787	chr19:56646087-56646088	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs140123769	chr19:56646121-56646122	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs144406728	chr19:56646183-56646184	Weak transcription Enhancers	Chromatin interactive region	2 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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56637800-56647600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:56638600-56651200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr19:56638800-56651800	Weak transcription	Spleen	Spleen
4	chr19:56639000-56647600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:56640800-56649000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr19:56642600-56647800	Enhancers	Placenta	Placenta
7	chr19:56643600-56646200	Enhancers	Primary B cells from cord blood	blood
8	chr19:56644000-56651200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:56644000-56651200	Weak transcription	Lung	lung
10	chr19:56644000-56651200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:56644200-56646800	Weak transcription	Liver	Liver
12	chr19:56644200-56647600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:56644200-56647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:56644200-56647600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr19:56644200-56647600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr19:56644200-56647600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:56644200-56649400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:56644200-56651200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:56644200-56651200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr19:56644200-56651200	Weak transcription	Brain Anterior Caudate	brain
21	chr19:56644200-56651200	Weak transcription	Fetal Kidney	kidney
22	chr19:56644200-56651400	Weak transcription	Right Atrium	heart
23	chr19:56644400-56651200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr19:56644800-56646200	Enhancers	Primary B cells from peripheral blood	blood
25	chr19:56644800-56649000	Weak transcription	Adipose Nuclei	Adipose
26	chr19:56645000-56647600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:56645000-56651200	Weak transcription	Aorta	Aorta
28	chr19:56645200-56646200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr19:56645200-56646200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr19:56645200-56646200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:56645200-56646200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:56645200-56646200	Enhancers	GM12878-XiMat	blood
33	chr19:56645200-56646800	Enhancers	NHEK	skin
34	chr19:56645200-56647600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr19:56645400-56646200	Enhancers	Primary hematopoietic stem cells	blood
36	chr19:56645400-56647000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr19:56645400-56651200	Weak transcription	NH-A	brain
38	chr19:56645400-56651800	Enhancers	Pancreas	Pancrea
39	chr19:56645600-56646200	Enhancers	Fetal Stomach	stomach
40	chr19:56645600-56646800	Enhancers	HMEC	breast
41	chr19:56645600-56647200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr19:56645600-56647600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:56645800-56646600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:56645800-56646800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr19:56645800-56647000	Weak transcription	HepG2	liver
46	chr19:56645800-56647600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr19:56645800-56647800	Weak transcription	Colonic Mucosa	Colon
48	chr19:56645800-56648800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr19:56645800-56648800	Weak transcription	A549	lung
50	chr19:56645800-56649000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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