Variant report

Variant	esv3383377
Chromosome Location	chr9:3319802-3322000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372929258	chr9:3319852-3319853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199976614	chr9:3319854-3319855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576759809	chr9:3319865-3319866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187870145	chr9:3319866-3319867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564955059	chr9:3319894-3319895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527412051	chr9:3319911-3319912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79602155	chr9:3319930-3319931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542240632	chr9:3319938-3319939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148178017	chr9:3319968-3319969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529923755	chr9:3319988-3319989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142015111	chr9:3319997-3319998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192155090	chr9:3320002-3320003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373255259	chr9:3320039-3320040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532127959	chr9:3320085-3320086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552095590	chr9:3320120-3320121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59378342	chr9:3320190-3320191	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545180478	chr9:3320221-3320222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184194822	chr9:3320277-3320278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187360453	chr9:3320285-3320286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567585960	chr9:3320290-3320291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192669023	chr9:3320295-3320296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528210899	chr9:3320299-3320300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201977923	chr9:3320315-3320316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199984729	chr9:3320327-3320328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556850959	chr9:3320339-3320340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376432042	chr9:3320355-3320356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576820488	chr9:3320364-3320365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72699049	chr9:3320390-3320391	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114440513	chr9:3320400-3320401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369988479	chr9:3320404-3320405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139268258	chr9:3320411-3320412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532981624	chr9:3320421-3320422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560928761	chr9:3320441-3320442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200781883	chr9:3320482-3320483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376092168	chr9:3320509-3320510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574139879	chr9:3320511-3320512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56839453	chr9:3320517-3320518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56723824	chr9:3320542-3320543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368826139	chr9:3320543-3320544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397960144	chr9:3320544-3320545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201712364	chr9:3320560-3320561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76501681	chr9:3320580-3320581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370074074	chr9:3320597-3320598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144320302	chr9:3320627-3320628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371084692	chr9:3320628-3320629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563200769	chr9:3320640-3320641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57819521	chr9:3320641-3320642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201097902	chr9:3320662-3320663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113751379	chr9:3320663-3320664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374373669	chr9:3320664-3320665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Ovarian cancer	22355333	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3244200-3338400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:3265600-3332000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr9:3277400-3337400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:3288200-3378400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr9:3291400-3338600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:3293200-3329600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr9:3293600-3352600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:3294800-3321200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:3300200-3320000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr9:3302400-3323600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:3305400-3328600	Weak transcription	GM12878-XiMat	blood
12	chr9:3306800-3337400	Weak transcription	Left Ventricle	heart
13	chr9:3307200-3325000	Weak transcription	Pancreas	Pancrea
14	chr9:3308600-3337000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr9:3309400-3350400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:3310200-3337000	Weak transcription	Primary B cells from cord blood	blood
17	chr9:3311600-3338800	Weak transcription	Thymus	Thymus
18	chr9:3313200-3337000	Weak transcription	Aorta	Aorta
19	chr9:3313400-3352400	Weak transcription	Primary T cells from cord blood	blood
20	chr9:3318800-3337400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr9:3319000-3320600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:3319000-3347800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr9:3319600-3330200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr9:3319600-3337200	Weak transcription	Brain Anterior Caudate	brain
25	chr9:3319800-3353800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr9:3320000-3320600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr9:3320600-3338600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:3320600-3347200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr9:3320800-3324400	Enhancers	HUVEC	blood vessel
30	chr9:3321200-3321600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:3321600-3328000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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