Variant report

Variant	esv3394848
Chromosome Location	chr7:83962716-83966614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551600054	chr7:83962720-83962721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544401018	chr7:83962737-83962738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570166613	chr7:83962751-83962752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117644689	chr7:83962786-83962787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549214286	chr7:83962810-83962811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376026658	chr7:83962818-83962819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567512598	chr7:83962834-83962835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17158881	chr7:83962847-83962848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553202737	chr7:83962911-83962912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571965023	chr7:83962962-83962963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539381888	chr7:83962980-83962981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557453717	chr7:83963018-83963019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576115086	chr7:83963081-83963082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183839347	chr7:83963132-83963133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561904040	chr7:83963134-83963135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189252769	chr7:83963139-83963140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112207417	chr7:83963188-83963189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111595614	chr7:83963189-83963190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146509853	chr7:83963190-83963191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11276169	chr7:83963194-83963195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527669804	chr7:83963221-83963222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371704359	chr7:83963258-83963259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192019817	chr7:83963309-83963310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17211840	chr7:83963325-83963326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184213565	chr7:83963333-83963334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58655769	chr7:83963362-83963363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531076686	chr7:83963410-83963411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372137652	chr7:83963476-83963477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17158882	chr7:83963481-83963482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187443247	chr7:83963508-83963509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534858780	chr7:83963610-83963611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563138786	chr7:83963614-83963615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368404355	chr7:83963655-83963656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546902806	chr7:83963657-83963658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571939790	chr7:83963671-83963672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35174967	chr7:83963695-83963696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573256460	chr7:83963703-83963704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538942715	chr7:83963715-83963716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34892178	chr7:83963724-83963725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557780515	chr7:83963766-83963767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191480464	chr7:83963818-83963819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575937838	chr7:83963876-83963877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537151092	chr7:83963914-83963915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555475738	chr7:83963976-83963977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573897106	chr7:83963979-83963980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541262089	chr7:83964000-83964001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552870382	chr7:83964021-83964022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75482688	chr7:83964023-83964024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184918824	chr7:83964075-83964076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542266735	chr7:83964078-83964079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83947200-83966800	Weak transcription	NHDF-Ad	bronchial
2	chr7:83961200-83965800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:83961400-83965000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:83961400-83965200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:83961400-83965400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:83961400-83965800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:83964000-83964200	Enhancers	Brain Germinal Matrix	brain
8	chr7:83964200-83966600	Weak transcription	Brain Germinal Matrix	brain
9	chr7:83965000-83967200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:83965200-83965400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:83965200-83965600	Enhancers	GM12878-XiMat	blood
12	chr7:83965200-83967200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:83965400-83965800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:83965400-83966000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:83965400-83966000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:83965400-83966000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:83965400-83967200	Enhancers	Fetal Brain Male	brain
18	chr7:83965400-83967200	Enhancers	Fetal Heart	heart
19	chr7:83965400-83967200	Enhancers	NH-A	brain
20	chr7:83965600-83965800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:83965600-83965800	Enhancers	HSMMtube	muscle
22	chr7:83965600-83966000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:83965600-83966200	Enhancers	Fetal Muscle Leg	muscle
24	chr7:83965600-83966200	Flanking Active TSS	GM12878-XiMat	blood
25	chr7:83965600-83967200	Enhancers	Osteobl	bone
26	chr7:83965600-83967400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:83965800-83966000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:83965800-83966000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:83965800-83966600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr7:83965800-83967000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:83965800-83968400	Weak transcription	HSMMtube	muscle
32	chr7:83966000-83966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:83966000-83967200	Enhancers	Adipose Nuclei	Adipose
34	chr7:83966000-83967200	Enhancers	NHLF	lung
35	chr7:83966200-83966400	Enhancers	GM12878-XiMat	blood
36	chr7:83966200-83966600	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:83966200-83967400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:83966400-83966800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr7:83966400-83967000	Enhancers	Primary B cells from cord blood	blood
40	chr7:83966600-83966800	Enhancers	HSMM	muscle
41	chr7:83966600-83967200	Enhancers	Fetal Muscle Leg	muscle
42	chr7:83966600-83967200	Enhancers	HMEC	breast
43	chr7:83966600-83967400	Enhancers	Brain Germinal Matrix	brain

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