Variant report

Variant	esv3336311
Chromosome Location	chr7:121192466-121194364
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	chr7:121014779..121017300-chr7:121190987..121193078,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116922869	chr7:121192488-121192489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187014869	chr7:121192493-121192494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148282322	chr7:121192496-121192497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140400529	chr7:121192509-121192510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557857909	chr7:121192545-121192546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147002097	chr7:121192549-121192550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563606822	chr7:121192552-121192553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537082513	chr7:121192564-121192565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139035575	chr7:121192621-121192622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192224502	chr7:121192683-121192684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543343431	chr7:121192710-121192711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574451644	chr7:121192771-121192772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142953047	chr7:121192786-121192787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553561094	chr7:121192820-121192821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369089790	chr7:121192855-121192856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147493937	chr7:121192878-121192879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565413514	chr7:121192879-121192880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576486699	chr7:121193124-121193125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538633805	chr7:121193128-121193129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56156049	chr7:121193196-121193197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544644053	chr7:121193197-121193198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71571025	chr7:121193307-121193308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56227160	chr7:121193321-121193322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60267504	chr7:121193349-121193350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60128408	chr7:121193351-121193352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57925873	chr7:121193353-121193354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59632844	chr7:121193355-121193356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570196273	chr7:121193357-121193358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61518394	chr7:121193363-121193364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60804589	chr7:121193365-121193366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374232526	chr7:121193367-121193368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369925667	chr7:121193375-121193376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13240613	chr7:121193392-121193393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561378463	chr7:121193402-121193403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111285722	chr7:121193427-121193428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561968329	chr7:121193437-121193438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529112322	chr7:121193467-121193468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548882386	chr7:121193496-121193497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12531641	chr7:121193497-121193498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs528316508	chr7:121193537-121193538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551173022	chr7:121193542-121193543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184281119	chr7:121193555-121193556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57704564	chr7:121193575-121193576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190451723	chr7:121193601-121193602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367594209	chr7:121193611-121193612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567277711	chr7:121193614-121193615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536910235	chr7:121193655-121193656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553721854	chr7:121193733-121193734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182277075	chr7:121193734-121193735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12531667	chr7:121193781-121193782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121187600-121192600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:121192600-121192800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:121192600-121193000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:121192800-121194000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:121194200-121194400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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