Variant report

Variant	nsv824201
Chromosome Location	chr7:86287312-86288320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548534543	chr7:86287320-86287321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs56399622	chr7:86287336-86287337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs802442	chr7:86287364-86287365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs558610656	chr7:86287372-86287373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576821571	chr7:86287390-86287391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs802443	chr7:86287391-86287392	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs555707198	chr7:86287394-86287395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564969494	chr7:86287448-86287449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377718736	chr7:86287449-86287450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560498244	chr7:86287484-86287485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532285421	chr7:86287485-86287486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371404985	chr7:86287514-86287515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375935048	chr7:86287519-86287520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143933040	chr7:86287532-86287533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546041858	chr7:86287625-86287626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564704444	chr7:86287659-86287660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367915523	chr7:86287681-86287682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550703042	chr7:86287702-86287703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116210969	chr7:86287718-86287719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550311545	chr7:86287754-86287755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568910592	chr7:86287770-86287771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115192986	chr7:86287791-86287792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552093814	chr7:86287836-86287837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529918425	chr7:86287872-86287873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61341364	chr7:86287921-86287922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548500073	chr7:86287973-86287974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566693670	chr7:86287980-86287981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534101847	chr7:86288022-86288023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552060637	chr7:86288044-86288045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6969080	chr7:86288093-86288094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367702307	chr7:86288112-86288113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73704960	chr7:86288189-86288190	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567717578	chr7:86288191-86288192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574703185	chr7:86288209-86288210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs202106818	chr7:86288232-86288233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200299015	chr7:86288233-86288234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs67605044	chr7:86288234-86288235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10701159	chr7:86288235-86288236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200538791	chr7:86288236-86288237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535123050	chr7:86288244-86288245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377333320	chr7:86288316-86288317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86280600-86289400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:86281000-86288800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:86283600-86297200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:86283800-86289200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:86283800-86297800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:86284000-86288200	Enhancers	Brain Anterior Caudate	brain
7	chr7:86284000-86289200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:86285200-86290200	Weak transcription	Brain Angular Gyrus	brain
9	chr7:86286600-86287800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:86286600-86290600	Enhancers	Brain Hippocampus Middle	brain
11	chr7:86286800-86292000	Enhancers	Brain Substantia Nigra	brain
12	chr7:86287000-86288200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:86287200-86288600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:86287800-86290400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:86288200-86288600	Weak transcription	Brain Anterior Caudate	brain
16	chr7:86288200-86290600	Enhancers	Brain Inferior Temporal Lobe	brain

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