Variant report

Variant	esv1988483
Chromosome Location	chr7:50460096-50460097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50454599..50457832-chr7:50460063..50462118,3	K562	blood:
2	chr7:50454599..50456922-chr7:50460063..50461739,2	K562	blood:
3	chr7:50458483..50461441-chr7:50461737..50464735,2	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 121 )

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	rs6964823	chr7:50460096-50460097	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:121)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Multiple myeloma	16616336	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50420000-50461800	Genic enhancers	Primary T cells fromperipheralblood	blood
2	chr7:50431200-50460600	Strong transcription	Dnd41	blood
3	chr7:50431400-50472600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:50437200-50460200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr7:50439400-50460600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
6	chr7:50440800-50461400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:50441200-50460200	Strong transcription	Thymus	Thymus
8	chr7:50441200-50460400	Strong transcription	Primary hematopoietic stem cells	blood
9	chr7:50441200-50460400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:50442200-50460200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:50445400-50461400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:50446600-50461400	Weak transcription	Colonic Mucosa	Colon
13	chr7:50447200-50467400	Weak transcription	Esophagus	oesophagus
14	chr7:50447200-50467400	Weak transcription	Gastric	stomach
15	chr7:50449200-50467400	Weak transcription	Liver	Liver
16	chr7:50451400-50462600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:50453200-50467800	Weak transcription	Pancreas	Pancrea
18	chr7:50454400-50461000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:50454600-50460800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:50454600-50461000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:50454600-50462400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr7:50455400-50460200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:50455400-50463400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:50455600-50461200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr7:50456200-50461200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr7:50456600-50462200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr7:50456800-50461200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:50457400-50461400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:50457400-50461400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:50459000-50460800	Strong transcription	Spleen	Spleen
31	chr7:50459000-50462600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:50459200-50460800	Genic enhancers	Primary B cells from cord blood	blood
33	chr7:50459200-50461200	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr7:50459200-50462400	Genic enhancers	Fetal Thymus	thymus
35	chr7:50459400-50462400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:50459800-50460800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:50459800-50462400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:50459800-50462600	Genic enhancers	Primary monocytes fromperipheralblood	blood
39	chr7:50460000-50460400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:50460000-50460400	ZNF genes & repeats	Lung	lung
41	chr7:50460000-50462000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:50460000-50462000	Genic enhancers	K562	blood
43	chr7:50460000-50462200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
44	chr7:50460000-50462600	Genic enhancers	GM12878-XiMat	blood

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