Variant report

Variant	esv3428818
Chromosome Location	chr10:5735589-5735861
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5487726..5489985-chr10:5734513..5736734,2	K562	blood:
2	chr10:5733731..5736743-chr10:5750015..5755601,4	MCF-7	breast:
3	chr10:5734758..5736346-chr10:5739333..5741720,2	MCF-7	breast:
4	chr10:5734808..5736462-chr10:5936256..5938867,2	K562	blood:
5	chr10:5726775..5729176-chr10:5734287..5736106,2	MCF-7	breast:
6	chr10:5702075..5704019-chr10:5735223..5736822,2	MCF-7	breast:
7	chr10:5706961..5708705-chr10:5733482..5736246,2	K562	blood:
8	chr10:5724274..5728540-chr10:5734829..5741563,8	MCF-7	breast:
9	chr10:5487726..5489985-chr10:5734513..5736734,3	K562	blood:
10	chr10:5735790..5738712-chr10:5931841..5933412,2	MCF-7	breast:
11	chr10:5733787..5736575-chr10:5751182..5753712,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134461	chromatin interactions
ENSG00000196372	chromatin interactions
ENSG00000134452	chromatin interactions
ENSG00000173848	chromatin interactions
ENSG00000108021	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140488525	chr10:5735604-5735605	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs542432484	chr10:5735605-5735606	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs7096742	chr10:5735648-5735649	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs576316392	chr10:5735714-5735715	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs541374531	chr10:5735721-5735722	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs145659645	chr10:5735771-5735772	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs79587757	chr10:5735795-5735796	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs116879903	chr10:5735817-5735818	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5728800-5746800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr10:5733800-5735600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:5734400-5735600	Flanking Active TSS	Liver	Liver
4	chr10:5734600-5735600	Active TSS	Stomach Mucosa	stomach
5	chr10:5734800-5763400	Weak transcription	HSMM	muscle
6	chr10:5735000-5735600	Flanking Active TSS	K562	blood
7	chr10:5735000-5736400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr10:5735000-5736800	Enhancers	Small Intestine	intestine
9	chr10:5735200-5735600	Active TSS	GM12878-XiMat	blood
10	chr10:5735200-5735800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:5735200-5735800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:5735200-5736000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:5735200-5736000	Enhancers	NH-A	brain
14	chr10:5735200-5736200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:5735200-5736200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:5735200-5736200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr10:5735200-5736200	Weak transcription	Ovary	ovary
18	chr10:5735200-5736200	Enhancers	Thymus	Thymus
19	chr10:5735200-5736400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:5735200-5736400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr10:5735200-5736400	Enhancers	Duodenum Mucosa	Duodenum
22	chr10:5735200-5736400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr10:5735200-5736400	Enhancers	Fetal Thymus	thymus
24	chr10:5735200-5736600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr10:5735200-5736600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr10:5735200-5736800	Enhancers	Primary B cells from peripheral blood	blood
27	chr10:5735200-5736800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr10:5735200-5736800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:5735200-5736800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr10:5735200-5737000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr10:5735200-5737000	Enhancers	Brain Substantia Nigra	brain
32	chr10:5735200-5737200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr10:5735200-5737400	Enhancers	Primary B cells from cord blood	blood
34	chr10:5735200-5737600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr10:5735200-5737600	Weak transcription	Dnd41	blood
36	chr10:5735200-5737800	Weak transcription	Psoas Muscle	Psoas
37	chr10:5735200-5738800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr10:5735200-5739000	Weak transcription	Fetal Intestine Large	intestine
39	chr10:5735200-5739400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:5735200-5739400	Weak transcription	Lung	lung
41	chr10:5735200-5739400	Weak transcription	Pancreas	Pancrea
42	chr10:5735200-5739800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr10:5735200-5743000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr10:5735200-5749000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr10:5735200-5750600	Weak transcription	Gastric	stomach
46	chr10:5735200-5767000	Weak transcription	Fetal Muscle Leg	muscle
47	chr10:5735400-5735600	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr10:5735400-5735600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr10:5735400-5735600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:5735400-5735600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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