Variant report

Variant	esv2761158
Chromosome Location	chr7:21863894-21877962
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	chr7:21877891..21879922-chr7:21953587..21955400,2	MCF-7	breast:

Extended variants
information (count: 764 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:764 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17145609	chr7:21863894-21863895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370784507	chr7:21863899-21863900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542799497	chr7:21863903-21863904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556121453	chr7:21863965-21863966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576108632	chr7:21863983-21863984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545072688	chr7:21864015-21864016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564154543	chr7:21864016-21864017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565054936	chr7:21864060-21864061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527641136	chr7:21864081-21864082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535262619	chr7:21864082-21864083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541070855	chr7:21864107-21864108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191987537	chr7:21864141-21864142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112567550	chr7:21864180-21864181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189905028	chr7:21864194-21864195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554856454	chr7:21864213-21864214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147448282	chr7:21864234-21864235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532766969	chr7:21864246-21864247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192554641	chr7:21864266-21864267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571366886	chr7:21864277-21864278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533765863	chr7:21864397-21864398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184484322	chr7:21864431-21864432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562646534	chr7:21864449-21864450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536185182	chr7:21864455-21864456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373929958	chr7:21864470-21864471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556443677	chr7:21864471-21864472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575798693	chr7:21864475-21864476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544814727	chr7:21864500-21864501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112578972	chr7:21864528-21864529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572245345	chr7:21864530-21864531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1963782	chr7:21864552-21864553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189166590	chr7:21864553-21864554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182057475	chr7:21864556-21864557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145372115	chr7:21864577-21864578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563978395	chr7:21864580-21864581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375835975	chr7:21864615-21864616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560601406	chr7:21864634-21864635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186391144	chr7:21864647-21864648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564965529	chr7:21864653-21864654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527430883	chr7:21864663-21864664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149189681	chr7:21864709-21864710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529467464	chr7:21864712-21864713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189193225	chr7:21864733-21864734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142589695	chr7:21864780-21864781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537711119	chr7:21864784-21864785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549134421	chr7:21864802-21864803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150959155	chr7:21864808-21864809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558363098	chr7:21864814-21864815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572185370	chr7:21864829-21864830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114596844	chr7:21864840-21864841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200037613	chr7:21864856-21864857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21860400-21882200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:21866000-21866600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:21866400-21866600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:21866600-21868400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:21867000-21868200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:21868000-21870600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:21868200-21869000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:21868200-21869000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:21868200-21869800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:21868400-21868800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:21868400-21868800	Enhancers	Brain Cingulate Gyrus	brain
12	chr7:21868400-21869000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:21868400-21869000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:21868400-21869000	Enhancers	Thymus	Thymus
15	chr7:21868400-21869200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:21868400-21869200	Enhancers	Primary T cells from cord blood	blood
17	chr7:21868600-21868800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:21868600-21869000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:21868600-21869000	Enhancers	Brain Anterior Caudate	brain
20	chr7:21868600-21869000	Enhancers	Fetal Thymus	thymus
21	chr7:21868600-21869600	Enhancers	Brain Hippocampus Middle	brain
22	chr7:21868800-21869000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr7:21869800-21884400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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