Variant report

Variant	esv3356438
Chromosome Location	chr7:69467816-69469964
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	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180996710	chr7:69467961-69467962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546377739	chr7:69467973-69467974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35276693	chr7:69467975-69467976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35724162	chr7:69467992-69467993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28667578	chr7:69468061-69468062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13232373	chr7:69468134-69468135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56242549	chr7:69468201-69468202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190975211	chr7:69468247-69468248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72324826	chr7:69468265-69468266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200732290	chr7:69468310-69468311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183194081	chr7:69468327-69468328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185693657	chr7:69468376-69468377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558959045	chr7:69468464-69468465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529733724	chr7:69468474-69468475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548029051	chr7:69468475-69468476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147931731	chr7:69468498-69468499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569736747	chr7:69468582-69468583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530579756	chr7:69468589-69468590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12698834	chr7:69468597-69468598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190651969	chr7:69468610-69468611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182887123	chr7:69468614-69468615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13246900	chr7:69468643-69468644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377303647	chr7:69468644-69468645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369507031	chr7:69468648-69468649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13222688	chr7:69468651-69468652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13246903	chr7:69468652-69468653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372582933	chr7:69468664-69468665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370062181	chr7:69468667-69468668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13222693	chr7:69468668-69468669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375552691	chr7:69468678-69468679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369441034	chr7:69468698-69468699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374525146	chr7:69468712-69468713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374241460	chr7:69468742-69468743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377704274	chr7:69468766-69468767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570432455	chr7:69468776-69468777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376578380	chr7:69468787-69468788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369040587	chr7:69468788-69468789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377104369	chr7:69468872-69468873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28971462	chr7:69468884-69468885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28971114	chr7:69468885-69468886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369203816	chr7:69468906-69468907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373354186	chr7:69468940-69468941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376038208	chr7:69468974-69468975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372909172	chr7:69468987-69468988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370534403	chr7:69469008-69469009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371932583	chr7:69469021-69469022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193044616	chr7:69469042-69469043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111211653	chr7:69469055-69469056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567098230	chr7:69469076-69469077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369228008	chr7:69469088-69469089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69455800-69470400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:69460200-69470200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:69460200-69471600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:69461400-69471000	Weak transcription	Right Atrium	heart
5	chr7:69461400-69471400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:69461400-69471600	Weak transcription	Right Ventricle	heart
7	chr7:69461600-69474000	Weak transcription	Psoas Muscle	Psoas
8	chr7:69462200-69470200	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:69463200-69470000	Weak transcription	Fetal Stomach	stomach
10	chr7:69465200-69470200	Weak transcription	Fetal Heart	heart
11	chr7:69466400-69469400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr7:69466400-69469600	Weak transcription	Fetal Thymus	thymus
13	chr7:69466400-69470000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:69466400-69470200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:69466400-69471400	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:69466400-69475200	Weak transcription	Left Ventricle	heart
17	chr7:69466600-69469400	Weak transcription	Thymus	Thymus
18	chr7:69466600-69470000	Weak transcription	GM12878-XiMat	blood
19	chr7:69466600-69470400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:69469400-69469600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:69469400-69470000	Enhancers	Dnd41	blood
22	chr7:69469400-69470800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:69469400-69471000	Enhancers	Thymus	Thymus
24	chr7:69469400-69472000	Enhancers	Primary B cells from peripheral blood	blood
25	chr7:69469600-69470400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr7:69469600-69472200	Enhancers	Fetal Thymus	thymus
27	chr7:69469800-69471000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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