Variant report

Variant	nsv511985
Chromosome Location	chr7:108351650-108354930
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	chr7:108354711..108356531-chr7:108358919..108360858,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181390422	chr7:108351815-108351816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543489086	chr7:108351838-108351839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184281162	chr7:108351870-108351871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2028039	chr7:108351888-108351889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73714705	chr7:108351891-108351892	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs57973513	chr7:108351904-108351905	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543340102	chr7:108351963-108351964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189000695	chr7:108351965-108351966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539757032	chr7:108351970-108351971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558011605	chr7:108351995-108351996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532408386	chr7:108352053-108352054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551488648	chr7:108352069-108352070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571578005	chr7:108352077-108352078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527829655	chr7:108352096-108352097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547911365	chr7:108352104-108352105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567889960	chr7:108352166-108352167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536828932	chr7:108352203-108352204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60645835	chr7:108352276-108352277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556680779	chr7:108352319-108352320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570273185	chr7:108352355-108352356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539270770	chr7:108352365-108352366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558275637	chr7:108352400-108352401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571696255	chr7:108352481-108352482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540772861	chr7:108352509-108352510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12705490	chr7:108352520-108352521	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs559123748	chr7:108352543-108352544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574326150	chr7:108352552-108352553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543274349	chr7:108352566-108352567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71568543	chr7:108352589-108352590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563451528	chr7:108352619-108352620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6951726	chr7:108352624-108352625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111922787	chr7:108352626-108352627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113903397	chr7:108352675-108352676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546071310	chr7:108352691-108352692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140082827	chr7:108352716-108352717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527666405	chr7:108352744-108352745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10216082	chr7:108352758-108352759	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs561386956	chr7:108352780-108352781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146844516	chr7:108352796-108352797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530187372	chr7:108352804-108352805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550108315	chr7:108352808-108352809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570189152	chr7:108352813-108352814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562248745	chr7:108352829-108352830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141491242	chr7:108352830-108352831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149231188	chr7:108352858-108352859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145895022	chr7:108352859-108352860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138061090	chr7:108352860-108352861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574198755	chr7:108352862-108352863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537110794	chr7:108352866-108352867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556918816	chr7:108352867-108352868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Autism	20841430	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108351800-108352200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr7:108351800-108352200	Enhancers	Fetal Stomach	stomach
3	chr7:108351800-108352200	Enhancers	Dnd41	blood
4	chr7:108351800-108352400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:108352000-108352800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:108352200-108352800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:108352200-108356800	Weak transcription	Fetal Stomach	stomach
8	chr7:108352200-108357000	Weak transcription	Dnd41	blood
9	chr7:108352400-108354600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:108354600-108355000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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