Variant report

Variant	nsv613267
Chromosome Location	chr9:7649442-7684552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 937 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:937 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2930713	chr9:7649442-7649443	Weak transcription	n/a	n/a	Overlapped CNVs	disease
2	rs530717099	chr9:7649460-7649461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185212168	chr9:7649462-7649463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529082653	chr9:7649467-7649468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369108903	chr9:7649486-7649487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535929366	chr9:7649487-7649488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540823689	chr9:7649494-7649495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547604561	chr9:7649522-7649523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117515667	chr9:7649527-7649528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539687568	chr9:7649548-7649549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199931372	chr9:7649564-7649565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533221715	chr9:7649618-7649619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557941728	chr9:7649653-7649654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576284965	chr9:7649690-7649691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188067468	chr9:7649693-7649694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182032564	chr9:7649720-7649721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573581966	chr9:7649741-7649742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551385226	chr9:7649751-7649752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541115481	chr9:7649774-7649775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559528234	chr9:7649809-7649810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577820895	chr9:7649826-7649827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186219030	chr9:7649853-7649854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553763615	chr9:7649876-7649877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576797695	chr9:7649878-7649879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368888974	chr9:7649896-7649897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190537176	chr9:7649899-7649900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141839045	chr9:7649910-7649911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183470599	chr9:7649933-7649934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146943815	chr9:7649935-7649936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547478463	chr9:7649960-7649961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565797254	chr9:7650049-7650050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539551415	chr9:7650054-7650055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10976476	chr9:7650058-7650059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569934389	chr9:7650078-7650079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137899813	chr9:7650088-7650089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555831301	chr9:7650090-7650091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186456427	chr9:7650093-7650094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534280746	chr9:7650113-7650114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531147265	chr9:7650123-7650124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373377605	chr9:7650135-7650136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573593590	chr9:7650154-7650155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191279490	chr9:7650189-7650190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577054384	chr9:7650206-7650207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577784155	chr9:7650207-7650208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545140697	chr9:7650211-7650212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546051410	chr9:7650216-7650217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557177648	chr9:7650231-7650232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141688837	chr9:7650279-7650280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542905836	chr9:7650303-7650304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546090445	chr9:7650330-7650331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7648200-7656400	Weak transcription	Fetal Heart	heart
2	chr9:7652200-7653200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr9:7652400-7654400	Enhancers	HUVEC	blood vessel
4	chr9:7652600-7654200	Enhancers	Adipose Nuclei	Adipose
5	chr9:7653000-7654200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr9:7653000-7654200	Enhancers	Fetal Lung	lung
7	chr9:7653200-7653800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr9:7653200-7654000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:7653400-7653800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:7653400-7654000	Enhancers	Primary T cells from cord blood	blood
11	chr9:7653400-7654000	Enhancers	Primary hematopoietic stem cells	blood
12	chr9:7653600-7653800	Enhancers	Brain Hippocampus Middle	brain
13	chr9:7653600-7654000	Enhancers	Brain Cingulate Gyrus	brain
14	chr9:7653800-7655600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr9:7654000-7656400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr9:7654000-7656600	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:7654400-7656400	Weak transcription	HUVEC	blood vessel
18	chr9:7656400-7657000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr9:7656400-7657200	Enhancers	Fetal Heart	heart
20	chr9:7656400-7657400	Enhancers	Brain Cingulate Gyrus	brain
21	chr9:7656400-7658000	Enhancers	HUVEC	blood vessel
22	chr9:7656600-7656800	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr9:7656600-7657000	Enhancers	Lung	lung
24	chr9:7656600-7657200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:7656600-7657200	Enhancers	Fetal Muscle Leg	muscle
26	chr9:7656600-7657200	Enhancers	Pancreas	Pancrea
27	chr9:7656600-7657200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr9:7656600-7657200	Enhancers	Stomach Mucosa	stomach
29	chr9:7656600-7657400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr9:7656600-7657400	Enhancers	Right Ventricle	heart
31	chr9:7656800-7657000	Enhancers	Brain Hippocampus Middle	brain
32	chr9:7656800-7657200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:7656800-7657200	Enhancers	Left Ventricle	heart
34	chr9:7656800-7657200	Enhancers	Ovary	ovary
35	chr9:7656800-7657200	Enhancers	Spleen	Spleen
36	chr9:7656800-7657400	Enhancers	Brain Anterior Caudate	brain
37	chr9:7656800-7657400	Enhancers	Brain Substantia Nigra	brain
38	chr9:7657000-7657200	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr9:7657000-7657200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr9:7657200-7657400	Enhancers	Brain Hippocampus Middle	brain
41	chr9:7657200-7657600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr9:7657200-7657600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr9:7657200-7659400	Weak transcription	Fetal Heart	heart
44	chr9:7657200-7659800	Weak transcription	Spleen	Spleen
45	chr9:7659400-7660200	Enhancers	Fetal Heart	heart
46	chr9:7665400-7666200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr9:7665400-7666400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr9:7665400-7666600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr9:7665600-7666200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:7665600-7666400	Enhancers	HUES48 Cell Line	embryonic stem cell

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