Variant report

Variant	nsv8411
Chromosome Location	chr9:7420218-7450456
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1778 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1778 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138834546	chr9:7420224-7420225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372105639	chr9:7420263-7420264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185307979	chr9:7420295-7420296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191384434	chr9:7420311-7420312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545537485	chr9:7420320-7420321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114454453	chr9:7420327-7420328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531563273	chr9:7420335-7420336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549776778	chr9:7420449-7420450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182755922	chr9:7420465-7420466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566175704	chr9:7420473-7420474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566334261	chr9:7420480-7420481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540038592	chr9:7420481-7420482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529999446	chr9:7420513-7420514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538343651	chr9:7420522-7420523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73415135	chr9:7420526-7420527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148950804	chr9:7420529-7420530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552737844	chr9:7420536-7420537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187776030	chr9:7420542-7420543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538449811	chr9:7420546-7420547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2148352	chr9:7420615-7420616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575324006	chr9:7420618-7420619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143771707	chr9:7420623-7420624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138391576	chr9:7420643-7420644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143062083	chr9:7420655-7420656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192069076	chr9:7420671-7420672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369592451	chr9:7420722-7420723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146140469	chr9:7420751-7420752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563858324	chr9:7420768-7420769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372096843	chr9:7420809-7420810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576120388	chr9:7420826-7420827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139008987	chr9:7420858-7420859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141173981	chr9:7420867-7420868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570577314	chr9:7420873-7420874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183261932	chr9:7420913-7420914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527578867	chr9:7420985-7420986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150715606	chr9:7420986-7420987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560486082	chr9:7420994-7420995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527713328	chr9:7420996-7420997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139102652	chr9:7421038-7421039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374913417	chr9:7421070-7421071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565533582	chr9:7421071-7421072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534819560	chr9:7421073-7421074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80330101	chr9:7421086-7421087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35757045	chr9:7421087-7421088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570969162	chr9:7421097-7421098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76096286	chr9:7421098-7421099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73415138	chr9:7421117-7421118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs79177002	chr9:7421160-7421161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550347316	chr9:7421206-7421207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540580866	chr9:7421213-7421214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7408000-7431200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:7425400-7426200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:7426200-7426400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:7426200-7426600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:7426200-7426800	ZNF genes & repeats	Gastric	stomach
6	chr9:7426400-7426600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:7426800-7427200	Weak transcription	Gastric	stomach
8	chr9:7431200-7432400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:7432400-7433000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:7432600-7435000	Enhancers	HMEC	breast
11	chr9:7432800-7434800	Enhancers	NHEK	skin
12	chr9:7433000-7434600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:7433000-7434600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:7433000-7434800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:7433200-7434200	Enhancers	Esophagus	oesophagus
16	chr9:7433200-7434200	ZNF genes & repeats	Lung	lung
17	chr9:7433600-7434000	Enhancers	Gastric	stomach
18	chr9:7434000-7434400	Weak transcription	Gastric	stomach
19	chr9:7434600-7439400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:7434600-7439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:7434800-7439400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:7434800-7439400	Weak transcription	NHEK	skin
23	chr9:7435000-7438000	Weak transcription	HMEC	breast
24	chr9:7438000-7440400	Enhancers	HMEC	breast
25	chr9:7438200-7438400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:7438400-7439400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:7438800-7440200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:7438800-7440400	Enhancers	Fetal Muscle Leg	muscle
29	chr9:7439000-7440400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr9:7439000-7440400	Enhancers	HSMMtube	muscle
31	chr9:7439400-7440200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:7439400-7440200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:7439400-7440400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:7439400-7440400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:7439400-7440400	Enhancers	NHEK	skin
36	chr9:7439600-7440000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:7439600-7440200	Enhancers	Brain Germinal Matrix	brain
38	chr9:7439600-7440200	Enhancers	Brain Hippocampus Middle	brain
39	chr9:7439600-7440400	Enhancers	Brain Cingulate Gyrus	brain
40	chr9:7439600-7440400	Enhancers	Brain Substantia Nigra	brain
41	chr9:7439800-7440200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:7439800-7440200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr9:7439800-7440400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:7440400-7442400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:7440400-7442400	Weak transcription	NHEK	skin
46	chr9:7440400-7442600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:7440400-7443000	Weak transcription	HMEC	breast
48	chr9:7440400-7452400	Weak transcription	HSMMtube	muscle
49	chr9:7440600-7446800	Weak transcription	Psoas Muscle	Psoas
50	chr9:7442200-7442400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links