Variant report

Variant	esv3415551
Chromosome Location	chr7:83709191-83711239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144694626	chr7:83709193-83709194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182023955	chr7:83709204-83709205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549126730	chr7:83709219-83709220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147405811	chr7:83709220-83709221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139738235	chr7:83709223-83709224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10259999	chr7:83709272-83709273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577548120	chr7:83709276-83709277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538921129	chr7:83709282-83709283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557265067	chr7:83709393-83709394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575547851	chr7:83709412-83709413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543376109	chr7:83709438-83709439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185771572	chr7:83709474-83709475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531897376	chr7:83709485-83709486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368875379	chr7:83709486-83709487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573641564	chr7:83709511-83709512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540810934	chr7:83709514-83709515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371204914	chr7:83709536-83709537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189060558	chr7:83709550-83709551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559585240	chr7:83709558-83709559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10263515	chr7:83709574-83709575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551689200	chr7:83709601-83709602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528701948	chr7:83709608-83709609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181615699	chr7:83709645-83709646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530738639	chr7:83709646-83709647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10274042	chr7:83709677-83709678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567592033	chr7:83709701-83709702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200289253	chr7:83709703-83709704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371217962	chr7:83709718-83709719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535113083	chr7:83709769-83709770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116370657	chr7:83709794-83709795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115754692	chr7:83709802-83709803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13310704	chr7:83709827-83709828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557154429	chr7:83709849-83709850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575484547	chr7:83709854-83709855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550775385	chr7:83710029-83710030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536552607	chr7:83710213-83710214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114928424	chr7:83710270-83710271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76118207	chr7:83710340-83710341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62473957	chr7:83710376-83710377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs62473958	chr7:83710415-83710416	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559527901	chr7:83710433-83710434	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs62473959	chr7:83710473-83710474	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535352685	chr7:83710480-83710481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs545198022	chr7:83710540-83710541	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs563479486	chr7:83710554-83710555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs147969475	chr7:83710561-83710562	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs530822621	chr7:83710631-83710632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs549053012	chr7:83710634-83710635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs561310580	chr7:83710639-83710640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs149678608	chr7:83710646-83710647	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83689800-83714400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:83690600-83714600	Weak transcription	NHDF-Ad	bronchial
3	chr7:83692200-83714600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:83698600-83710400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:83698600-83715400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:83703200-83715200	Weak transcription	NH-A	brain
7	chr7:83703600-83714400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:83703600-83715400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:83703800-83714400	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:83706000-83711200	Weak transcription	Dnd41	blood
11	chr7:83707400-83721600	Weak transcription	Fetal Brain Male	brain
12	chr7:83708000-83718000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:83708400-83711400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:83708400-83714400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:83708800-83715000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:83710400-83710800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:83710800-83715000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:83711200-83712000	Enhancers	Primary T cells from cord blood	blood
19	chr7:83711200-83712200	Enhancers	Dnd41	blood

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