Variant report

Variant	nsv5996
Chromosome Location	chr7:146905699-146950685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:146913926..146916451-chr7:146918952..146920556,2	K562	blood:
2	chr7:146433613..146434480-chr7:146942002..146942841,3	MCF-7	breast:
3	chr7:146920592..146922587-chr7:146928456..146931427,2	K562	blood:
4	chr7:146945142..146947426-chr7:146947550..146950265,2	K562	blood:
5	chr7:146920592..146922587-chr7:146928456..146931427,2	K562	blood:
6	chr7:146913926..146916451-chr7:146918952..146920556,2	K562	blood:
7	chr7:146945142..146947426-chr7:146947550..146950265,2	K562	blood:
8	chr7:146947046..146947712-chr7:147780872..147781389,2	MCF-7	breast:
9	chr7:146942052..146943007-chr7:147780653..147781865,8	MCF-7	breast:

No data

Extended variants
information (count: 115 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13241146	chr7:146909401-146909402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528456780	chr7:146909419-146909420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190239322	chr7:146909438-146909439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144525799	chr7:146909454-146909455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76343647	chr7:146909482-146909483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551292706	chr7:146909536-146909537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567730430	chr7:146909606-146909607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182466278	chr7:146909709-146909710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35460969	chr7:146909744-146909745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548626658	chr7:146909745-146909746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75855416	chr7:146932807-146932808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533714003	chr7:146932832-146932833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567249603	chr7:146932850-146932851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550310818	chr7:146932876-146932877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528454520	chr7:146932922-146932923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2036119	chr7:146932927-146932928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548642103	chr7:146932935-146932936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563737104	chr7:146932937-146932938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2036120	chr7:146932939-146932940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2036121	chr7:146932941-146932942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531409394	chr7:146932942-146932943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145373631	chr7:146932967-146932968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs137933361	chr7:146933012-146933013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6977374	chr7:146933033-146933034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547038006	chr7:146933064-146933065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143850773	chr7:146933066-146933067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539361823	chr7:146933172-146933173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114916431	chr7:146933187-146933188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576179305	chr7:146933190-146933191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535906661	chr7:146933222-146933223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555562162	chr7:146933247-146933248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77638698	chr7:146933271-146933272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541430693	chr7:146933272-146933273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17170366	chr7:146933360-146933361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75974721	chr7:146933390-146933391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369762717	chr7:146942009-146942010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190865493	chr7:146942049-146942050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182254533	chr7:146942078-146942079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573044563	chr7:146942101-146942102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374174449	chr7:146942102-146942103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188068867	chr7:146942114-146942115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75076107	chr7:146942173-146942174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34346538	chr7:146942199-146942200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111892568	chr7:146942202-146942203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192440767	chr7:146942247-146942248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1390721	chr7:146942255-146942256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10278151	chr7:146942258-146942259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs79839263	chr7:146942265-146942266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139373527	chr7:146942268-146942269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1496545	chr7:146942272-146942273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:95)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146909400-146909800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:146932800-146933400	Enhancers	Brain Cingulate Gyrus	brain
3	chr7:146932800-146933400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:146933000-146933400	Enhancers	Brain Anterior Caudate	brain
5	chr7:146933000-146933400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr7:146942000-146942600	Enhancers	Primary B cells from cord blood	blood
7	chr7:146945200-146945800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:146945400-146946200	Enhancers	Fetal Lung	lung
9	chr7:146946800-146947200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:146946800-146947400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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