Variant report

Variant	esv17814
Chromosome Location	chr9:7060286-7061750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115922046	chr9:7060290-7060291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs16925262	chr9:7060292-7060293	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192313421	chr9:7060337-7060338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547518975	chr9:7060363-7060364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541071553	chr9:7060386-7060387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559397369	chr9:7060429-7060430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200339391	chr9:7060452-7060453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541837520	chr9:7060454-7060455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147100950	chr9:7060455-7060456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74450690	chr9:7060457-7060458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200240301	chr9:7060467-7060468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62536960	chr9:7060472-7060473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183261102	chr9:7060487-7060488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79366463	chr9:7060490-7060491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12552412	chr9:7060493-7060494	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539893881	chr9:7060544-7060545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113806467	chr9:7060553-7060554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369907166	chr9:7060563-7060564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372416714	chr9:7060567-7060568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557879330	chr9:7060596-7060597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375713349	chr9:7060599-7060600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549433851	chr9:7060601-7060602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549561961	chr9:7060617-7060618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576342994	chr9:7060619-7060620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535007727	chr9:7060635-7060636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546543551	chr9:7060638-7060639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188725665	chr9:7060663-7060664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539315439	chr9:7060683-7060684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191567207	chr9:7060722-7060723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576165891	chr9:7060725-7060726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112519340	chr9:7060732-7060733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138922596	chr9:7060772-7060773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115081879	chr9:7060799-7060800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549015871	chr9:7060809-7060810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74640430	chr9:7060812-7060813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398096257	chr9:7060813-7060814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17449018	chr9:7060825-7060826	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10976014	chr9:7060854-7060855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113594026	chr9:7060861-7060862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370667768	chr9:7060865-7060866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562694725	chr9:7060868-7060869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182633366	chr9:7060870-7060871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62536961	chr9:7060942-7060943	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs561535857	chr9:7060982-7060983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569573765	chr9:7060989-7060990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs16925263	chr9:7060997-7060998	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs546706898	chr9:7061055-7061056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571292419	chr9:7061079-7061080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538678052	chr9:7061100-7061101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186621536	chr9:7061123-7061124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7009000-7076600	Weak transcription	HSMM	muscle
2	chr9:7009200-7077600	Weak transcription	Osteobl	bone
3	chr9:7009800-7076600	Weak transcription	HSMMtube	muscle
4	chr9:7012200-7111200	Weak transcription	Colonic Mucosa	Colon
5	chr9:7012800-7076800	Weak transcription	Pancreas	Pancrea
6	chr9:7017800-7075000	Weak transcription	HepG2	liver
7	chr9:7018800-7064400	Weak transcription	Psoas Muscle	Psoas
8	chr9:7028400-7076800	Weak transcription	Placenta	Placenta
9	chr9:7028800-7076400	Weak transcription	Aorta	Aorta
10	chr9:7028800-7077000	Weak transcription	Esophagus	oesophagus
11	chr9:7028800-7086400	Weak transcription	Right Ventricle	heart
12	chr9:7029000-7061400	Weak transcription	Fetal Intestine Small	intestine
13	chr9:7029000-7076400	Weak transcription	Ovary	ovary
14	chr9:7029000-7076600	Weak transcription	Lung	lung
15	chr9:7029000-7077400	Weak transcription	Gastric	stomach
16	chr9:7029000-7081200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:7034000-7103600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr9:7043000-7069400	Weak transcription	NHDF-Ad	bronchial
19	chr9:7043400-7103600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:7045400-7077000	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:7045400-7077000	Weak transcription	HMEC	breast
22	chr9:7046400-7077000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr9:7047600-7061400	Weak transcription	Spleen	Spleen
24	chr9:7049200-7075600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr9:7049400-7076000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr9:7050000-7076800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr9:7050000-7082200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr9:7050200-7076600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:7050400-7061400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr9:7050400-7076400	Weak transcription	Dnd41	blood
31	chr9:7051000-7068600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:7051600-7103200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr9:7051800-7076200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr9:7052000-7064000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:7052000-7074800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:7052000-7075800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:7052000-7076400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr9:7052600-7086400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr9:7053000-7076200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr9:7053000-7076200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr9:7053000-7086600	Weak transcription	Fetal Intestine Large	intestine
42	chr9:7053200-7076600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:7053200-7077000	Weak transcription	Brain Angular Gyrus	brain
44	chr9:7053200-7084400	Weak transcription	Brain Hippocampus Middle	brain
45	chr9:7053200-7099200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr9:7054400-7077400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr9:7054600-7064200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr9:7055200-7069000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr9:7055400-7062000	Strong transcription	Primary B cells from cord blood	blood
50	chr9:7055600-7076000	Weak transcription	Left Ventricle	heart

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