Variant report

Variant	nsv970935
Chromosome Location	chr7:124120801-124121406
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	chr7:124116352..124119655-chr7:124119768..124122495,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230268	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539063001	chr7:124120813-124120814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553335234	chr7:124120819-124120820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs66469910	chr7:124120823-124120824	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184395008	chr7:124120850-124120851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538299568	chr7:124120854-124120855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554817361	chr7:124120856-124120857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558117018	chr7:124120863-124120864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533728557	chr7:124120878-124120879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs187490155	chr7:124120905-124120906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376548464	chr7:124120914-124120915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545832974	chr7:124120924-124120925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191600446	chr7:124120925-124120926	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12666460	chr7:124120931-124120932	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541490525	chr7:124120956-124120957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561169807	chr7:124120961-124120962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530351441	chr7:124120978-124120979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185077910	chr7:124121011-124121012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147202925	chr7:124121039-124121040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372234415	chr7:124121093-124121094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552611570	chr7:124121108-124121109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs115767841	chr7:124121132-124121133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569238234	chr7:124121134-124121135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531862068	chr7:124121143-124121144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11761268	chr7:124121222-124121223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568552530	chr7:124121258-124121259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372931521	chr7:124121342-124121343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189145460	chr7:124121356-124121357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570729862	chr7:124121380-124121381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124120600-124121600	Weak transcription	Fetal Heart	heart

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