Variant report

Variant	esv1443543
Chromosome Location	chr7:26135637-26135639
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26134385..26136107-chr7:26239301..26241163,2	K562	blood:
2	chr7:26117990..26136794-chr7:26219781..26234338,53	K562	blood:
3	chr7:26127085..26136794-chr7:26224123..26230309,16	K562	blood:
4	chr7:26134161..26136379-chr7:26242320..26244096,2	K562	blood:
5	chr7:26127176..26132084-chr7:26132908..26137367,5	K562	blood:
6	chr7:26131124..26132975-chr7:26134853..26136801,2	K562	blood:
7	chr7:26135136..26138294-chr7:26144321..26146577,5	MCF-7	breast:
8	chr7:26133229..26135657-chr7:26144514..26146950,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000122565	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000050344	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11368583	chr7:26135637-26135638	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs386409745	chr7:26135638-26135639	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26119200-26141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:26126000-26135800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:26127000-26136600	Weak transcription	Fetal Thymus	thymus
4	chr7:26129000-26136400	Weak transcription	Placenta	Placenta
5	chr7:26129800-26136400	Weak transcription	GM12878-XiMat	blood
6	chr7:26131000-26136200	Weak transcription	Primary B cells from cord blood	blood
7	chr7:26131000-26136200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:26131000-26136400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:26131000-26136400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr7:26131000-26136800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:26131800-26137200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:26131800-26137400	Weak transcription	A549	lung
13	chr7:26131800-26140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:26132000-26135800	Weak transcription	Primary T cells from cord blood	blood
15	chr7:26132000-26135800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:26132000-26136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:26132000-26137400	Weak transcription	Hela-S3	cervix
18	chr7:26132200-26136000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:26132200-26136200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:26132200-26136200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:26132200-26136200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:26132200-26137400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:26132200-26137400	Weak transcription	NHEK	skin
24	chr7:26132400-26135800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr7:26132600-26135800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:26132600-26137400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:26134800-26137000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:26135400-26137000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:26135600-26139200	Enhancers	Primary T helper cells PMA-I stimulated	--

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