Variant report

Variant	esv3329073
Chromosome Location	chr7:69662166-69669564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34896003	chr7:69662171-69662172	Active TSS ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534429373	chr7:69662190-69662191	Active TSS ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34055892	chr7:69662248-69662249	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397889571	chr7:69662249-69662250	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558680513	chr7:69662262-69662263	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs398005108	chr7:69662271-69662272	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75838528	chr7:69662274-69662275	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541292680	chr7:69662283-69662284	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559336252	chr7:69662287-69662288	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79993264	chr7:69662290-69662291	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541796091	chr7:69662326-69662327	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563485355	chr7:69662351-69662352	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547987724	chr7:69662369-69662370	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531023684	chr7:69662377-69662378	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367936594	chr7:69662386-69662387	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564654723	chr7:69662393-69662394	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528802845	chr7:69662452-69662453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560585704	chr7:69662468-69662469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528281015	chr7:69662540-69662541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536312913	chr7:69662547-69662548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556529508	chr7:69662548-69662549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370757886	chr7:69662558-69662559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568750109	chr7:69662660-69662661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536299310	chr7:69663172-69663173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548199302	chr7:69663198-69663199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569663246	chr7:69663202-69663203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537106693	chr7:69663231-69663232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558495040	chr7:69663234-69663235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570593812	chr7:69663247-69663248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534501626	chr7:69663249-69663250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552875900	chr7:69663310-69663311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574385573	chr7:69663324-69663325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541859295	chr7:69663386-69663387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191685245	chr7:69663392-69663393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141242291	chr7:69663400-69663401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546250690	chr7:69663408-69663409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1708844	chr7:69663628-69663629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564409207	chr7:69663758-69663759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199632016	chr7:69664212-69664213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200747125	chr7:69664245-69664246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201862028	chr7:69664921-69664922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201916977	chr7:69665286-69665287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9718473	chr7:69667026-69667027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377545366	chr7:69667660-69667661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372050153	chr7:69667784-69667785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113950169	chr7:69667819-69667820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540828468	chr7:69667882-69667883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368319618	chr7:69667883-69667884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529574559	chr7:69668003-69668004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548213425	chr7:69668041-69668042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	19246517	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69655000-69692400	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69660600-69663200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:69661800-69662200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr7:69662000-69662200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:69662000-69662200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:69662000-69662400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:69662000-69662400	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr7:69662200-69662400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:69662200-69662400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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