Variant report

Variant	esv3693381
Chromosome Location	chr9:8231940-8268051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1463 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1463 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7038843	chr9:8231940-8231941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190570440	chr9:8231956-8231957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557794163	chr9:8232030-8232031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145449482	chr9:8232063-8232064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139425342	chr9:8232076-8232077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200085290	chr9:8232100-8232101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113383495	chr9:8232118-8232119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145148419	chr9:8232128-8232129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147578259	chr9:8232139-8232140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553510891	chr9:8232171-8232172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578136014	chr9:8232193-8232194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561773026	chr9:8232242-8232243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183500548	chr9:8232272-8232273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563346012	chr9:8232302-8232303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530627128	chr9:8232306-8232307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572366938	chr9:8232346-8232347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542608121	chr9:8232351-8232352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187998286	chr9:8232357-8232358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528363660	chr9:8232366-8232367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546609943	chr9:8232367-8232368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571531543	chr9:8232391-8232392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72706467	chr9:8232403-8232404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76257615	chr9:8232404-8232405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192907634	chr9:8232419-8232420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79058060	chr9:8232422-8232423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142215889	chr9:8232425-8232426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567581948	chr9:8232451-8232452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184515796	chr9:8232486-8232487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565375071	chr9:8232521-8232522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532515463	chr9:8232525-8232526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs118122939	chr9:8232548-8232549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191316822	chr9:8232579-8232580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530850023	chr9:8232609-8232610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557599624	chr9:8232639-8232640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575404355	chr9:8232657-8232658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184969578	chr9:8232660-8232661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73643507	chr9:8232671-8232672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376461012	chr9:8232677-8232678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189297732	chr9:8232689-8232690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10815797	chr9:8232698-8232699	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs181723569	chr9:8232734-8232735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532282105	chr9:8232740-8232741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376363298	chr9:8232795-8232796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185264969	chr9:8232859-8232860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145928501	chr9:8232868-8232869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568363001	chr9:8232869-8232870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151230961	chr9:8232881-8232882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1937785	chr9:8232889-8232890	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189747123	chr9:8232910-8232911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534682591	chr9:8232923-8232924	Weak transcription Enhancers	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
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8231400-8234200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:8231400-8234400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:8232600-8232800	Enhancers	Brain Cingulate Gyrus	brain
4	chr9:8232800-8233000	Enhancers	Brain Hippocampus Middle	brain
5	chr9:8232800-8233400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr9:8233200-8234200	Weak transcription	Brain Hippocampus Middle	brain
7	chr9:8233400-8234800	Enhancers	Brain Cingulate Gyrus	brain
8	chr9:8233600-8235000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:8233600-8235200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr9:8233600-8235600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:8233800-8234800	Enhancers	Fetal Brain Female	brain
12	chr9:8233800-8235000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:8233800-8235000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr9:8233800-8235000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr9:8233800-8235000	Enhancers	Fetal Brain Male	brain
16	chr9:8233800-8235800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:8234000-8235200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr9:8234200-8234600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr9:8234200-8235000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:8234200-8235000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:8234200-8235000	Enhancers	Brain Hippocampus Middle	brain
22	chr9:8234400-8234600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:8234400-8235000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:8234400-8235000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr9:8237200-8237800	Enhancers	Fetal Lung	lung
26	chr9:8244200-8244400	Enhancers	Brain Substantia Nigra	brain
27	chr9:8244200-8245200	Enhancers	Brain Hippocampus Middle	brain
28	chr9:8244400-8244800	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr9:8244400-8245200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr9:8244400-8245400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:8244600-8244800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:8244600-8244800	Enhancers	Fetal Brain Female	brain
33	chr9:8244600-8245000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr9:8244600-8245200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr9:8244600-8245400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr9:8244600-8247000	Enhancers	Brain Germinal Matrix	brain
37	chr9:8244800-8245200	Enhancers	Brain Cingulate Gyrus	brain
38	chr9:8244800-8245200	Active TSS	Brain Substantia Nigra	brain
39	chr9:8244800-8246200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:8244800-8246400	Weak transcription	Fetal Brain Female	brain
41	chr9:8245200-8246400	Weak transcription	Brain Hippocampus Middle	brain
42	chr9:8245400-8246400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:8246200-8247200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:8246400-8247000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:8246400-8247000	Enhancers	Fetal Brain Female	brain
46	chr9:8246600-8246800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:8246600-8246800	Enhancers	Brain Hippocampus Middle	brain
48	chr9:8247000-8251400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:8247200-8247800	Enhancers	Dnd41	blood
50	chr9:8247200-8251400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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