Variant report

Variant	nsv613848
Chromosome Location	chr9:24152518-24258863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 473 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551131989	chr9:24157207-24157208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570593877	chr9:24157218-24157219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72702142	chr9:24157233-24157234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553188069	chr9:24157236-24157237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186360642	chr9:24157278-24157279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78883630	chr9:24157304-24157305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147851774	chr9:24157363-24157364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574921695	chr9:24157368-24157369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564302213	chr9:24158665-24158666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75864192	chr9:24158683-24158684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540339617	chr9:24158702-24158703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138844681	chr9:24158711-24158712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529012678	chr9:24158724-24158725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185284131	chr9:24158753-24158754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142146459	chr9:24158774-24158775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62573274	chr9:24158781-24158782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199744704	chr9:24158782-24158783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145766368	chr9:24158789-24158790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10966248	chr9:24158791-24158792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77096132	chr9:24158792-24158793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547471558	chr9:24158808-24158809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188845042	chr9:24158894-24158895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531458160	chr9:24158924-24158925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147814805	chr9:24158926-24158927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191733273	chr9:24158992-24158993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59808767	chr9:24159018-24159019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555994157	chr9:24159024-24159025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77646620	chr9:24159041-24159042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376202923	chr9:24159114-24159115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17176228	chr9:24159115-24159116	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs73486713	chr9:24159231-24159232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577911487	chr9:24159237-24159238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370029301	chr9:24159282-24159283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377298871	chr9:24159316-24159317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573791765	chr9:24159321-24159322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542739517	chr9:24159334-24159335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17254767	chr9:24159378-24159379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183898844	chr9:24159387-24159388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544944242	chr9:24159400-24159401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188374885	chr9:24159426-24159427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150725710	chr9:24159430-24159431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547408784	chr9:24159452-24159453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567319000	chr9:24159548-24159549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139030612	chr9:24159599-24159600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549936989	chr9:24159637-24159638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1787204	chr9:24159644-24159645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569318376	chr9:24159646-24159647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538435648	chr9:24159665-24159666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12237859	chr9:24159668-24159669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72702144	chr9:24159709-24159710	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:142)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24157200-24157400	Enhancers	Gastric	stomach
2	chr9:24158600-24159400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr9:24158600-24159600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:24158600-24159600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:24158800-24159200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:24158800-24159400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:24159000-24159400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr9:24159000-24159400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:24159200-24159400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr9:24159200-24160000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:24177400-24180200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:24180200-24180600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:24189800-24191000	Enhancers	HSMMtube	muscle
14	chr9:24190400-24190800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:24207800-24208200	Active TSS	Aorta	Aorta
16	chr9:24216600-24217200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:24217200-24218200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:24218200-24218400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:24240800-24241200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr9:24242600-24243000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:24242600-24243000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:24242800-24243200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:24250600-24251000	Enhancers	HUES48 Cell Line	embryonic stem cell

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