Variant report

Variant	esv2414967
Chromosome Location	chr19:39392993-39393425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39393347-39393397	PFSK-1	brain:	n/a
2	chr19:39393347-39393397	MCF10A-Er-Src	breast:	n/a
3	chr19:39393347-39393397	BE2_C	brain:	n/a
4	chr19:39393347-39393397	GM12891	blood:	n/a
5	chr19:39393347-39393397	Hela-S3	cervix:	n/a
6	chr19:39393347-39393397	SKMC	muscle:	n/a
7	chr19:39393347-39393397	A549	lung:	n/a
8	chr19:39393347-39393397	HCM	heart:	n/a
9	chr19:39393347-39393397	SK-N-MC	brain:	n/a
10	chr19:39393347-39393397	HUVEC	blood vessel:	n/a
11	chr19:39393347-39393397	NHDF-neo	bronchial:	n/a
12	chr19:39393347-39393397	HEEpiC	esophagus:	n/a
13	chr19:39393347-39393397	SK-N-SH_RA	brain:	n/a
14	chr19:39393347-39393397	HNPCEpiC	eye:	n/a
15	chr19:39393347-39393397	HRPEpiC	eye:	n/a
16	chr19:39393347-39393397	CMK	blood:	n/a
17	chr19:39393347-39393397	HPAEpiC	pulmonary alveolar:	n/a
18	chr19:39393347-39393397	NH-A	brain:	n/a
19	chr19:39393347-39393397	K562	blood:	n/a
20	chr19:39393347-39393397	GM12878	blood:	n/a
21	chr19:39393347-39393397	HMEC	breast:	n/a
22	chr19:39393347-39393397	HCF	heart:	n/a
23	chr19:39393347-39393397	H1-hESC	embryonic stem cell:	embryo
24	chr19:39393347-39393397	GM06990	blood:	n/a
25	chr19:39393347-39393397	HL-60	blood:	n/a
26	chr19:39393347-39393397	HepG2	liver:	n/a
27	chr19:39393347-39393397	AG10803	skin:	n/a
28	chr19:39393347-39393397	ProgFib	skin:	n/a
29	chr19:39393347-39393397	SK-N-SH	brain:	n/a
30	chr19:39393347-39393397	MCF-7	breast:	n/a
31	chr19:39393347-39393397	Caco-2	colon:	n/a
32	chr19:39393347-39393397	AG04449	skin:	fetal
33	chr19:39393347-39393397	Jurkat	blood:	n/a
34	chr19:39393347-39393397	HIPEpiC	eye:	n/a
35	chr19:39393347-39393397	AG09319	gingival:	n/a
36	chr19:39393347-39393397	HAEpiC	amniotic membrane:	n/a
37	chr19:39393347-39393397	PANC-1	pancreas:	n/a
38	chr19:39393347-39393397	IMR90	lung:	fetal
39	chr19:39393347-39393397	HCPEpiC	choroid plexus:	n/a
40	chr19:39393347-39393397	Hepatocyte	liver:	n/a
41	chr19:39393347-39393397	HEK293	kidney:	embryo
42	chr19:39393347-39393397	ovcar-3	ovarian:	n/a
43	chr19:39393347-39393397	AG04450	lung:	fetal
44	chr19:39393347-39393397	HRE	kidney:	n/a
45	chr19:39393347-39393397	NT2-D1	testis:	n/a
46	chr19:39393347-39393397	U87	brain:	n/a
47	chr19:39393347-39393397	T-47D	breast:	n/a
48	chr19:39393347-39393397	GM12892	blood:	n/a
49	chr19:39393347-39393397	ECC-1	luminal epithelium:	n/a
50	chr19:39393347-39393397	AG09309	skin:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39338478..39344219-chr19:39387112..39393304,19	K562	blood:
2	chr19:39391259..39393276-chr19:39393440..39395044,2	MCF-7	breast:
3	chr19:39338023..39344706-chr19:39388476..39392998,12	MCF-7	breast:

No data

Variant related genes	Relation type
SIRT2	CpG island
ENSG00000104824	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532837981	chr19:39393000-39393001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs578007700	chr19:39393002-39393003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11083485	chr19:39393005-39393006	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560451216	chr19:39393082-39393083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527946983	chr19:39393125-39393126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549187697	chr19:39393204-39393205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564058387	chr19:39393206-39393207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs199836585	chr19:39393209-39393210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200918307	chr19:39393210-39393211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550048505	chr19:39393271-39393272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190485176	chr19:39393272-39393273	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183688961	chr19:39393287-39393288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554193184	chr19:39393326-39393327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187815932	chr19:39393351-39393352	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs372990148	chr19:39393386-39393387	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs534049178	chr19:39393410-39393411	Weak transcription Enhancers	n/a	n/a	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
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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39391000-39394800	Weak transcription	Spleen	Spleen
2	chr19:39391000-39395000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:39391000-39395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:39391200-39394800	Weak transcription	Gastric	stomach
5	chr19:39391200-39395000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr19:39391200-39395200	Weak transcription	Pancreas	Pancrea
7	chr19:39391200-39395400	Weak transcription	Aorta	Aorta
8	chr19:39391200-39395400	Weak transcription	Esophagus	oesophagus
9	chr19:39391200-39395600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:39391200-39420800	Weak transcription	Small Intestine	intestine
11	chr19:39391400-39395200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:39391400-39395600	Weak transcription	Brain Germinal Matrix	brain
13	chr19:39391400-39397400	Weak transcription	Fetal Brain Female	brain
14	chr19:39391400-39397600	Weak transcription	Psoas Muscle	Psoas
15	chr19:39391400-39402200	Weak transcription	Fetal Brain Male	brain
16	chr19:39391600-39394800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr19:39391600-39395000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr19:39391600-39395000	Weak transcription	NHDF-Ad	bronchial
19	chr19:39391600-39395200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr19:39391600-39395200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr19:39391600-39395200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:39391600-39395200	Weak transcription	Colonic Mucosa	Colon
23	chr19:39391600-39395200	Weak transcription	Ovary	ovary
24	chr19:39391600-39395200	Weak transcription	Right Ventricle	heart
25	chr19:39391600-39397800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr19:39391600-39414800	Weak transcription	HMEC	breast
27	chr19:39391600-39420600	Weak transcription	Right Atrium	heart
28	chr19:39391800-39393600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:39391800-39394200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr19:39391800-39394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr19:39391800-39395000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:39391800-39395000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr19:39391800-39395000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:39391800-39395000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:39391800-39395000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:39391800-39395000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:39391800-39395000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr19:39391800-39395000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr19:39391800-39395000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr19:39391800-39395000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr19:39391800-39395200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:39391800-39395200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:39391800-39395200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:39391800-39395200	Weak transcription	Brain Substantia Nigra	brain
45	chr19:39391800-39395200	Weak transcription	Colon Smooth Muscle	Colon
46	chr19:39391800-39395200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr19:39391800-39395200	Weak transcription	Thymus	Thymus
48	chr19:39391800-39395400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr19:39391800-39395400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:39391800-39395400	Weak transcription	Rectal Mucosa Donor 31	rectum

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