Variant report

Variant	nsv1031395
Chromosome Location	chr7:102816661-102868998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 374 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140134054	chr7:102827211-102827212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62480132	chr7:102827257-102827258	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs569178021	chr7:102827288-102827289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539746646	chr7:102827326-102827327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551320125	chr7:102827351-102827352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62480133	chr7:102827359-102827360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs192497203	chr7:102827382-102827383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116117934	chr7:102827407-102827408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77619467	chr7:102827419-102827420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62480134	chr7:102827431-102827432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs539736777	chr7:102827441-102827442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556416265	chr7:102827493-102827494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577966352	chr7:102827509-102827510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4265122	chr7:102827544-102827545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184676203	chr7:102827655-102827656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3987898	chr7:102827715-102827716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571319973	chr7:102827717-102827718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189196618	chr7:102827751-102827752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538738000	chr7:102827789-102827790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571982658	chr7:102827796-102827797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375751956	chr7:102827815-102827816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3987899	chr7:102827832-102827833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3987900	chr7:102827851-102827852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542290363	chr7:102827861-102827862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556971600	chr7:102827867-102827868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377042518	chr7:102827868-102827869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561002245	chr7:102827934-102827935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531325737	chr7:102828029-102828030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375903526	chr7:102828115-102828116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4336542	chr7:102828151-102828152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs562751942	chr7:102828176-102828177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2909165	chr7:102828264-102828265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533388137	chr7:102828276-102828277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537597380	chr7:102828281-102828282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367635067	chr7:102828299-102828300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551655494	chr7:102828327-102828328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373704535	chr7:102828328-102828329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4266582	chr7:102828337-102828338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs117020235	chr7:102828393-102828394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143151927	chr7:102828401-102828402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369864588	chr7:102828402-102828403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79984934	chr7:102828404-102828405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567637200	chr7:102828451-102828452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192569552	chr7:102828464-102828465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567722109	chr7:102828532-102828533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4727563	chr7:102828569-102828570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs184838410	chr7:102828573-102828574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143067826	chr7:102828593-102828594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4729887	chr7:102828670-102828671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs188436623	chr7:102828683-102828684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21510904	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102827200-102827800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr7:102827400-102827800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:102827800-102828800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:102828800-102830400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:102829000-102830200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:102835400-102836200	Enhancers	Liver	Liver
7	chr7:102835400-102836600	Enhancers	Hela-S3	cervix
8	chr7:102835800-102836200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:102839600-102840400	Enhancers	K562	blood
10	chr7:102850600-102850800	Weak transcription	Fetal Lung	lung
11	chr7:102850800-102851000	Enhancers	Fetal Lung	lung
12	chr7:102851000-102851400	Flanking Active TSS	Fetal Lung	lung
13	chr7:102851200-102851800	Enhancers	K562	blood
14	chr7:102863800-102864000	Enhancers	GM12878-XiMat	blood
15	chr7:102864000-102866400	Weak transcription	GM12878-XiMat	blood
16	chr7:102865800-102867200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:102866400-102867000	Enhancers	GM12878-XiMat	blood
18	chr7:102867200-102871800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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