Variant report

Variant	esv10941
Chromosome Location	chr9:7429023-7449898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1195 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1195 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189208091	chr9:7429024-7429025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561983842	chr9:7429115-7429116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193090355	chr9:7429124-7429125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541740964	chr9:7429157-7429158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559060635	chr9:7429159-7429160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368383032	chr9:7429162-7429163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77142799	chr9:7429174-7429175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150044760	chr9:7429187-7429188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116178749	chr9:7429194-7429195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367630367	chr9:7429195-7429196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530672751	chr9:7429196-7429197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530192018	chr9:7429234-7429235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73398049	chr9:7429256-7429257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185438335	chr9:7429260-7429261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12684802	chr9:7429280-7429281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546889359	chr9:7429283-7429284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565894537	chr9:7429326-7429327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188942512	chr9:7429332-7429333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73398050	chr9:7429354-7429355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376736250	chr9:7429362-7429363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112130012	chr9:7429384-7429385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73398052	chr9:7429397-7429398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574200477	chr9:7429409-7429410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10120316	chr9:7429449-7429450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560007338	chr9:7429456-7429457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73640247	chr9:7429473-7429474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73640248	chr9:7429481-7429482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563315029	chr9:7429494-7429495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530607843	chr9:7429499-7429500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549119706	chr9:7429514-7429515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560884616	chr9:7429526-7429527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528298322	chr9:7429547-7429548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145311910	chr9:7429573-7429574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571512970	chr9:7429577-7429578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538587172	chr9:7429614-7429615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377109530	chr9:7429619-7429620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551344370	chr9:7429623-7429624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369702248	chr9:7429632-7429633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537120956	chr9:7429650-7429651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142654909	chr9:7429658-7429659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373855864	chr9:7429659-7429660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541096867	chr9:7429664-7429665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535224893	chr9:7429696-7429697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553338274	chr9:7429744-7429745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144877960	chr9:7429764-7429765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545752329	chr9:7429807-7429808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147773582	chr9:7429816-7429817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575325860	chr9:7429824-7429825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542704329	chr9:7429860-7429861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7018629	chr9:7429878-7429879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:56 , 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	chr9:7431200-7432400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:7432400-7433000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:7432600-7435000	Enhancers	HMEC	breast
5	chr9:7432800-7434800	Enhancers	NHEK	skin
6	chr9:7433000-7434600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:7433000-7434600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:7433000-7434800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:7433200-7434200	Enhancers	Esophagus	oesophagus
10	chr9:7433200-7434200	ZNF genes & repeats	Lung	lung
11	chr9:7433600-7434000	Enhancers	Gastric	stomach
12	chr9:7434000-7434400	Weak transcription	Gastric	stomach
13	chr9:7434600-7439400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:7434600-7439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:7434800-7439400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:7434800-7439400	Weak transcription	NHEK	skin
17	chr9:7435000-7438000	Weak transcription	HMEC	breast
18	chr9:7438000-7440400	Enhancers	HMEC	breast
19	chr9:7438200-7438400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:7438400-7439400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:7438800-7440200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:7438800-7440400	Enhancers	Fetal Muscle Leg	muscle
23	chr9:7439000-7440400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr9:7439000-7440400	Enhancers	HSMMtube	muscle
25	chr9:7439400-7440200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:7439400-7440200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:7439400-7440400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:7439400-7440400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:7439400-7440400	Enhancers	NHEK	skin
30	chr9:7439600-7440000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:7439600-7440200	Enhancers	Brain Germinal Matrix	brain
32	chr9:7439600-7440200	Enhancers	Brain Hippocampus Middle	brain
33	chr9:7439600-7440400	Enhancers	Brain Cingulate Gyrus	brain
34	chr9:7439600-7440400	Enhancers	Brain Substantia Nigra	brain
35	chr9:7439800-7440200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:7439800-7440200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr9:7439800-7440400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:7440400-7442400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:7440400-7442400	Weak transcription	NHEK	skin
40	chr9:7440400-7442600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:7440400-7443000	Weak transcription	HMEC	breast
42	chr9:7440400-7452400	Weak transcription	HSMMtube	muscle
43	chr9:7440600-7446800	Weak transcription	Psoas Muscle	Psoas
44	chr9:7442200-7442400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:7442200-7442800	Enhancers	Esophagus	oesophagus
46	chr9:7442400-7442600	Active TSS	HSMM	muscle
47	chr9:7442400-7442600	Active TSS	NHEK	skin
48	chr9:7442400-7442800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:7442400-7449800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:7442600-7442800	Flanking Active TSS	HSMM	muscle

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