Variant report

Variant	esv3410361
Chromosome Location	chr7:7909242-7909774
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	chr7:7908600..7910763-chr7:7934050..7936742,2	K562	blood:
2	chr7:7908747..7911245-chr7:7915416..7917083,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532827711	chr7:7909246-7909247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6974654	chr7:7909281-7909282	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6974658	chr7:7909292-7909293	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192237978	chr7:7909348-7909349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76039418	chr7:7909358-7909359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113981182	chr7:7909373-7909374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149322143	chr7:7909374-7909375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144456157	chr7:7909381-7909382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545457307	chr7:7909391-7909392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563648592	chr7:7909393-7909394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530893924	chr7:7909477-7909478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549114578	chr7:7909495-7909496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12668597	chr7:7909513-7909514	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530923714	chr7:7909514-7909515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12668141	chr7:7909537-7909538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs61398953	chr7:7909641-7909642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12665898	chr7:7909659-7909660	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs34084462	chr7:7909687-7909688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	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

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7895400-7918000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:7897200-7923200	Weak transcription	Psoas Muscle	Psoas
3	chr7:7897200-7942400	Weak transcription	Aorta	Aorta
4	chr7:7901200-7915600	Weak transcription	Gastric	stomach
5	chr7:7906800-7909400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:7907000-7910400	Enhancers	Thymus	Thymus
7	chr7:7907200-7911400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:7907400-7909600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:7907400-7909600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:7907400-7911200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:7907400-7911400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:7907600-7910400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr7:7907600-7911000	Enhancers	Fetal Heart	heart
14	chr7:7907800-7910200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:7907800-7910200	Weak transcription	Right Atrium	heart
16	chr7:7907800-7911200	Enhancers	Fetal Brain Male	brain
17	chr7:7907800-7915200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:7908000-7909400	Enhancers	Primary T cells from cord blood	blood
19	chr7:7908000-7909600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:7908000-7910200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:7908000-7911600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:7908000-7912000	Enhancers	Brain Germinal Matrix	brain
23	chr7:7908000-7919400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:7908200-7909600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:7908200-7909600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:7908200-7918800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:7908200-7921200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:7908400-7909400	Enhancers	Primary B cells from cord blood	blood
29	chr7:7908400-7909400	Enhancers	Primary hematopoietic stem cells	blood
30	chr7:7908400-7911400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:7908600-7909400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:7908800-7909600	Enhancers	Brain Anterior Caudate	brain
33	chr7:7908800-7909600	Enhancers	Left Ventricle	heart
34	chr7:7908800-7909800	Enhancers	Brain Hippocampus Middle	brain
35	chr7:7908800-7910400	Enhancers	Fetal Muscle Leg	muscle
36	chr7:7908800-7911400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:7909000-7909600	Enhancers	Adipose Nuclei	Adipose
38	chr7:7909000-7910000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:7909000-7910000	Weak transcription	Brain Substantia Nigra	brain
40	chr7:7909000-7910200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:7909000-7910200	Weak transcription	Fetal Thymus	thymus
42	chr7:7909000-7910200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:7909000-7915600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:7909000-7922600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr7:7909200-7909400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:7909200-7910200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:7909200-7911400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr7:7909400-7912800	Weak transcription	Primary T cells from cord blood	blood
49	chr7:7909400-7922400	Weak transcription	Primary B cells from cord blood	blood
50	chr7:7909600-7911000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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