Variant report

Variant	esv2195823
Chromosome Location	chr7:16969233-16969235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16968832..16971770-chr7:16973554..16975101,2	MCF-7	breast:
2	chr7:16960280..16962673-chr7:16969030..16970953,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 90 )

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	rs201366790	chr7:16969233-16969234	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Melanoma	18172304	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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16961000-16973400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:16963200-16972400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:16963200-16973600	Weak transcription	Small Intestine	intestine
4	chr7:16964800-16969600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:16965600-16970200	Enhancers	Stomach Mucosa	stomach
6	chr7:16966600-16973200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:16966800-16974800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:16967200-16977600	Weak transcription	Gastric	stomach
9	chr7:16967600-16974200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:16967800-16974200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:16968000-16974000	Weak transcription	NHEK	skin
12	chr7:16968200-16973000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:16968400-16970800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:16968400-16973000	Enhancers	Primary T cells from cord blood	blood
15	chr7:16968400-16973200	Enhancers	Primary B cells from cord blood	blood
16	chr7:16968600-16970400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:16968600-16970800	Enhancers	Primary B cells from peripheral blood	blood
18	chr7:16968600-16971600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:16968600-16972000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:16968800-16969800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr7:16968800-16970000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr7:16968800-16970200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr7:16968800-16971200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:16968800-16971400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr7:16968800-16971400	Enhancers	Fetal Thymus	thymus
26	chr7:16968800-16974800	Enhancers	Thymus	Thymus
27	chr7:16969000-16969400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:16969000-16970000	Enhancers	Primary hematopoietic stem cells	blood
29	chr7:16969000-16970000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr7:16969000-16970000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:16969200-16970000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:16969200-16970200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:16969200-16970200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr7:16969200-16970200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:16969200-16973000	Weak transcription	GM12878-XiMat	blood
36	chr7:16969200-16973600	Weak transcription	Rectal Mucosa Donor 29	rectum

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