Variant report

Variant	nsv16719
Chromosome Location	chr10:4891496-4891505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4889601..4892561-chr10:4898786..4902485,4	K562	blood:
2	chr10:4891149..4892494-chr10:5136639..5137645,6	MCF-7	breast:
3	chr10:4889582..4893055-chr10:5488577..5492028,3	K562	blood:
4	chr10:4890480..4892072-chr10:4898141..4900833,2	K562	blood:
5	chr10:4886550..4889346-chr10:4889579..4891812,3	K562	blood:
6	chr10:4891471..4892825-chr10:5475771..5476996,5	MCF-7	breast:
7	chr10:4868225..4872491-chr10:4887658..4893097,7	K562	blood:
8	chr10:4887846..4890181-chr10:4890997..4893869,2	MCF-7	breast:
9	chr10:4869791..4871610-chr10:4890458..4893097,2	K562	blood:
10	chr10:4889346..4893055-chr10:5487931..5492462,5	K562	blood:
11	chr10:4889478..4893997-chr10:4907910..4911141,5	K562	blood:
12	chr10:4865557..4869749-chr10:4889417..4893452,5	K562	blood:
13	chr10:4881735..4884422-chr10:4890525..4893210,2	K562	blood:
14	chr10:4889192..4892732-chr10:4894446..4896505,3	K562	blood:
15	chr10:4890255..4892293-chr10:5502028..5504599,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173848	chromatin interactions
ENSG00000165568	chromatin interactions

Extended variants
information (count: 5 )
Associated
traits (count: 54 )

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	rs146574641	chr10:4891496-4891497	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2397980	chr10:4891501-4891502	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2167700	chr10:4891502-4891503	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2397979	chr10:4891504-4891505	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs2397978	chr10:4891505-4891506	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4869200-4891600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:4869200-4892200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:4869400-4891600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr10:4870600-4891800	Weak transcription	Fetal Brain Male	brain
5	chr10:4872600-4892400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:4874600-4891800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:4876000-4891600	Weak transcription	Brain Angular Gyrus	brain
8	chr10:4878000-4891800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:4878600-4894600	Weak transcription	Ovary	ovary
10	chr10:4878800-4891800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:4878800-4891800	Weak transcription	Fetal Kidney	kidney
12	chr10:4879200-4891600	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:4879400-4891800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr10:4879800-4891800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr10:4879800-4891800	Weak transcription	Lung	lung
16	chr10:4880000-4891800	Weak transcription	Fetal Lung	lung
17	chr10:4880000-4891800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr10:4880200-4894400	Weak transcription	Brain Germinal Matrix	brain
19	chr10:4880600-4891600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr10:4880800-4891800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:4881200-4891800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr10:4885800-4891600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr10:4886000-4891600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:4886000-4891800	Weak transcription	Aorta	Aorta
25	chr10:4886000-4891800	Weak transcription	Gastric	stomach
26	chr10:4886000-4891800	Weak transcription	Pancreas	Pancrea
27	chr10:4886000-4909800	Weak transcription	Left Ventricle	heart
28	chr10:4886200-4891600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr10:4886200-4891600	Weak transcription	Fetal Brain Female	brain
30	chr10:4886400-4891600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr10:4886400-4891800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr10:4887600-4891800	Weak transcription	Fetal Intestine Large	intestine
33	chr10:4887600-4891800	Weak transcription	Right Ventricle	heart
34	chr10:4888000-4896000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:4888400-4896800	Weak transcription	Spleen	Spleen
36	chr10:4888600-4895000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr10:4889000-4892200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:4889000-4892600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr10:4889200-4892200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr10:4889200-4892400	Enhancers	NHLF	lung
41	chr10:4889200-4892600	Enhancers	HUVEC	blood vessel
42	chr10:4889200-4892800	Enhancers	NHDF-Ad	bronchial
43	chr10:4889400-4892200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:4889400-4892200	Enhancers	Osteobl	bone
45	chr10:4889400-4894000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:4889600-4891800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:4889600-4892400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:4889600-4892600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr10:4889600-4895800	Enhancers	Stomach Mucosa	stomach
50	chr10:4889800-4891600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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