Variant report

Variant	esv2439400
Chromosome Location	chr9:7371319-7372749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75889633	chr9:7371340-7371341	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552022519	chr9:7371359-7371360	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10511466	chr9:7371388-7371389	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531117703	chr9:7371401-7371402	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs187055750	chr9:7371412-7371413	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs190540775	chr9:7371422-7371423	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148429261	chr9:7371433-7371434	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs140770530	chr9:7371466-7371467	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs13299330	chr9:7371470-7371471	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs1926364	chr9:7371478-7371479	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150149643	chr9:7371502-7371503	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs572589880	chr9:7371541-7371542	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372022607	chr9:7371551-7371552	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs145554160	chr9:7371553-7371554	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs148908481	chr9:7371562-7371563	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546600735	chr9:7371576-7371577	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs576579938	chr9:7371589-7371590	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs543855013	chr9:7371608-7371609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16925945	chr9:7371632-7371633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147000736	chr9:7371645-7371646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1926363	chr9:7371646-7371647	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs558014517	chr9:7371656-7371657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560132899	chr9:7371672-7371673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527492964	chr9:7371686-7371687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79225992	chr9:7371701-7371702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1926362	chr9:7371721-7371722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531288112	chr9:7371725-7371726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532552071	chr9:7371738-7371739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78197479	chr9:7371745-7371746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568045210	chr9:7371747-7371748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535813900	chr9:7371776-7371777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548077674	chr9:7371778-7371779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566194636	chr9:7371793-7371794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557144563	chr9:7371818-7371819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139047449	chr9:7371834-7371835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558349899	chr9:7371845-7371846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576644249	chr9:7371863-7371864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540580261	chr9:7371892-7371893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560385198	chr9:7371913-7371914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182723135	chr9:7371951-7371952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573788129	chr9:7371958-7371959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369106300	chr9:7371964-7371965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541027922	chr9:7371969-7371970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368731579	chr9:7371982-7371983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554039657	chr9:7371983-7371984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187364145	chr9:7372012-7372013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190277040	chr9:7372019-7372020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563914133	chr9:7372044-7372045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531348647	chr9:7372051-7372052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543494057	chr9:7372058-7372059	Enhancers 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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7364400-7374400	Weak transcription	Fetal Kidney	kidney
2	chr9:7364400-7377000	Weak transcription	Ovary	ovary
3	chr9:7367400-7373000	Enhancers	Fetal Stomach	stomach
4	chr9:7367600-7371600	Enhancers	Rectal Smooth Muscle	rectum
5	chr9:7367800-7371400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:7367800-7371800	Enhancers	Adipose Nuclei	Adipose
7	chr9:7368400-7371800	Enhancers	Fetal Muscle Leg	muscle
8	chr9:7369000-7371400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:7369400-7371400	Enhancers	Psoas Muscle	Psoas
10	chr9:7369600-7371600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr9:7370400-7371600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:7370400-7371600	Enhancers	Left Ventricle	heart
13	chr9:7370400-7371600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr9:7370400-7371600	Enhancers	HSMMtube	muscle
15	chr9:7370600-7371400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:7370600-7372400	Enhancers	Fetal Heart	heart
17	chr9:7371000-7371600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:7371000-7371600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:7371000-7371600	Enhancers	Right Ventricle	heart
20	chr9:7371000-7374800	Weak transcription	HepG2	liver
21	chr9:7371200-7371400	Enhancers	Brain Hippocampus Middle	brain
22	chr9:7371200-7371400	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr9:7371200-7371600	Flanking Active TSS	Fetal Lung	lung
24	chr9:7371200-7371600	Enhancers	Stomach Smooth Muscle	stomach
25	chr9:7371400-7371600	Enhancers	Colon Smooth Muscle	Colon
26	chr9:7371400-7374600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:7371600-7372000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:7371600-7372000	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:7371600-7372200	Weak transcription	Left Ventricle	heart
30	chr9:7371600-7372200	Weak transcription	Right Ventricle	heart
31	chr9:7371600-7372600	Enhancers	Fetal Lung	lung
32	chr9:7371600-7374400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:7371800-7374400	Weak transcription	Fetal Muscle Leg	muscle
34	chr9:7372000-7372400	Enhancers	Colon Smooth Muscle	Colon
35	chr9:7372000-7372600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:7372200-7372400	Enhancers	Left Ventricle	heart
37	chr9:7372200-7372400	Enhancers	Right Atrium	heart
38	chr9:7372200-7372400	Enhancers	Right Ventricle	heart
39	chr9:7372600-7373800	Weak transcription	Fetal Lung	lung

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