Variant report

Variant	nsv970922
Chromosome Location	chr7:102805358-102810814
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	chr7:102789022..102791029-chr7:102804564..102807367,2	K562	blood:
2	chr7:102788301..102790522-chr7:102804564..102807525,2	K562	blood:

Variant related genes	Relation type
ENSG00000161048	chromatin interactions

Extended variants
information (count: 199 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573012393	chr7:102805368-102805369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs78355393	chr7:102805422-102805423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540522579	chr7:102805423-102805424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369264454	chr7:102805434-102805435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554170430	chr7:102805437-102805438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs71917329	chr7:102805477-102805478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200369160	chr7:102805479-102805480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs201279961	chr7:102805489-102805490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111697919	chr7:102805502-102805503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186403518	chr7:102805523-102805524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543163406	chr7:102805555-102805556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150695157	chr7:102805590-102805591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532350787	chr7:102805596-102805597	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576311264	chr7:102805599-102805600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372094947	chr7:102805612-102805613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113264210	chr7:102805618-102805619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs149429270	chr7:102805625-102805626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144806661	chr7:102805627-102805628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113079072	chr7:102805664-102805665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371075153	chr7:102805670-102805671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532467121	chr7:102805679-102805680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191310513	chr7:102805688-102805689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559317466	chr7:102805704-102805705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529727190	chr7:102805739-102805740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547885321	chr7:102805773-102805774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs5886250	chr7:102805787-102805788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567481569	chr7:102805800-102805801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181830542	chr7:102805872-102805873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs6976639	chr7:102805891-102805892	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs142486152	chr7:102805965-102805966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539333067	chr7:102805998-102805999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553850861	chr7:102806098-102806099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566064549	chr7:102806125-102806126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10233675	chr7:102806144-102806145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs150930539	chr7:102806241-102806242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555093680	chr7:102806247-102806248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186898875	chr7:102806293-102806294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs371950700	chr7:102806294-102806295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543623269	chr7:102806366-102806367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558753476	chr7:102806437-102806438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577029901	chr7:102806449-102806450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs6943640	chr7:102806453-102806454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
43	rs149741971	chr7:102806463-102806464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557654022	chr7:102806469-102806470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191040047	chr7:102806493-102806494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs146735338	chr7:102806526-102806527	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563020888	chr7:102806527-102806528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183218885	chr7:102806609-102806610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549927425	chr7:102806619-102806620	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571830104	chr7:102806628-102806629	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102803600-102807400	Weak transcription	Adipose Nuclei	Adipose
2	chr7:102804600-102807400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:102805200-102806600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:102806000-102806600	Enhancers	Primary T cells from cord blood	blood
5	chr7:102806600-102808200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:102807400-102807800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:102807400-102807800	Enhancers	Adipose Nuclei	Adipose
8	chr7:102808200-102812200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:102808800-102809200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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