Variant report

Variant	esv2761509
Chromosome Location	chr9:24283658-24333912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 423 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538841759	chr9:24290821-24290822	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs543185191	chr9:24290832-24290833	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs377434788	chr9:24290847-24290848	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs77032992	chr9:24290858-24290859	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs566022067	chr9:24290864-24290865	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs186155244	chr9:24290903-24290904	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552053814	chr9:24290921-24290922	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188905588	chr9:24290923-24290924	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528116903	chr9:24290925-24290926	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548254734	chr9:24290927-24290928	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568093451	chr9:24290928-24290929	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs537167447	chr9:24290936-24290937	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs536549567	chr9:24290988-24290989	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556761035	chr9:24290995-24290996	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs116375205	chr9:24291248-24291249	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs140965581	chr9:24291274-24291275	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs545682343	chr9:24291280-24291281	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs191177398	chr9:24291284-24291285	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs375356801	chr9:24291303-24291304	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs528069450	chr9:24291344-24291345	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs73486735	chr9:24291354-24291355	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs553556300	chr9:24292404-24292405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528590081	chr9:24292408-24292409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141889495	chr9:24292420-24292421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150628119	chr9:24292521-24292522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139900443	chr9:24292537-24292538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541758337	chr9:24292542-24292543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192544445	chr9:24292543-24292544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575289198	chr9:24292559-24292560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565854353	chr9:24292560-24292561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536581597	chr9:24292568-24292569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548479012	chr9:24292574-24292575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7868331	chr9:24292583-24292584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs184731238	chr9:24292587-24292588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537051925	chr9:24292599-24292600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533014920	chr9:24292667-24292668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540326230	chr9:24292710-24292711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143184051	chr9:24292737-24292738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528723922	chr9:24292791-24292792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377054627	chr9:24292805-24292806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147543989	chr9:24292821-24292822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546698694	chr9:24292874-24292875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78039774	chr9:24292889-24292890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189247574	chr9:24292897-24292898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531132464	chr9:24292909-24292910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550528176	chr9:24292917-24292918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570520966	chr9:24292939-24292940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140175768	chr9:24292968-24292969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74504622	chr9:24292992-24292993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553480650	chr9:24293018-24293019	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:143)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24290800-24291000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:24291200-24291400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:24292400-24293600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr9:24292400-24294800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr9:24292600-24293400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr9:24292600-24295000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:24292800-24293000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:24292800-24293800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr9:24292800-24295000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:24293000-24293200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:24293000-24293400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr9:24293000-24293600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr9:24293000-24293800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr9:24293000-24294000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr9:24293200-24293600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:24293400-24293800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr9:24293400-24294000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr9:24293400-24294400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:24293600-24294000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:24293600-24294000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr9:24293600-24294600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr9:24293800-24294000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr9:24293800-24295400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr9:24294000-24294600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:24294000-24295000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr9:24294400-24294600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:24294600-24294800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr9:24295000-24296000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:24295400-24296000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:24296000-24296200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr9:24296200-24296400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr9:24303000-24303400	Active TSS	Fetal Heart	heart
33	chr9:24314400-24314800	Active TSS	Gastric	stomach
34	chr9:24326800-24328200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:24327000-24327600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr9:24327600-24331200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr9:24330800-24331400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr9:24331000-24331400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:24331000-24331600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr9:24331000-24331800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr9:24331200-24332600	Enhancers	HUES48 Cell Line	embryonic stem cell

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