Variant report

Variant	esv1551090
Chromosome Location	chr7:6682475-6682484
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6682112..6684474-chr7:6686272..6690280,3	MCF-7	breast:
2	chr7:6614762..6617092-chr7:6682142..6684739,2	K562	blood:
3	chr7:6680998..6682837-chr7:6692889..6695214,2	MCF-7	breast:
4	chr7:6681243..6682856-chr7:6746246..6748831,2	K562	blood:

Variant related genes	Relation type
ENSG00000260054	chromatin interactions
ENSG00000164631	chromatin interactions
ENSG00000136247	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 76 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573039341	chr7:6682475-6682476	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6678000-6691600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:6678200-6683200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr7:6678200-6683400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:6678200-6683800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:6678200-6684200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:6678200-6685000	Strong transcription	NHEK	skin
7	chr7:6678200-6698200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:6678400-6683000	Weak transcription	Small Intestine	intestine
9	chr7:6678400-6691600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:6678400-6691600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:6678600-6682800	Weak transcription	Stomach Mucosa	stomach
12	chr7:6678600-6687800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:6678600-6687800	Strong transcription	Fetal Intestine Large	intestine
14	chr7:6678600-6689600	Strong transcription	Fetal Intestine Small	intestine
15	chr7:6678800-6685600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:6678800-6688600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:6678800-6689600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:6678800-6691200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:6678800-6691400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:6679000-6682800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:6679000-6684600	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr7:6679000-6684800	Strong transcription	A549	lung
23	chr7:6679000-6687800	Strong transcription	Fetal Stomach	stomach
24	chr7:6679000-6689200	Strong transcription	Thymus	Thymus
25	chr7:6679000-6689400	Strong transcription	Fetal Thymus	thymus
26	chr7:6679000-6689600	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:6679000-6690000	Strong transcription	Fetal Brain Female	brain
28	chr7:6679000-6692200	Strong transcription	Primary T cells from cord blood	blood
29	chr7:6679000-6692600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr7:6679000-6695200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr7:6679000-6695400	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr7:6679200-6690200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:6679200-6690200	Strong transcription	Lung	lung
34	chr7:6679200-6690200	Strong transcription	NHLF	lung
35	chr7:6679200-6695400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:6679400-6682800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:6679400-6691600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr7:6679400-6691600	Strong transcription	Liver	Liver
39	chr7:6679400-6696400	Strong transcription	Brain Hippocampus Middle	brain
40	chr7:6679400-6703600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:6679600-6682800	Strong transcription	Osteobl	bone
42	chr7:6679600-6689200	Strong transcription	Brain Germinal Matrix	brain
43	chr7:6679600-6689400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr7:6679600-6689600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:6679600-6693200	Strong transcription	Rectal Smooth Muscle	rectum
46	chr7:6679600-6699200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr7:6679800-6686400	Strong transcription	GM12878-XiMat	blood
48	chr7:6679800-6687400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr7:6679800-6689400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:6679800-6689400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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