Variant report

Variant	nsv613133
Chromosome Location	chr9:2403909-2421273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2419060..2420979-chr9:2425024..2427147,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-1	chr9:2415397-2415540	l_3727_chr9:2411588-2611526_ovary
2	lnc-VLDLR-2	chr9:2408820-2408888	XLOC_007266
3	lnc-KIAA0020-1	chr9:2411589-2414510	l_3727_chr9:2411588-2611526_ovary

Extended variants
information (count: 887 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:887 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs866991	chr9:2403909-2403910	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571655231	chr9:2403964-2403965	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534214595	chr9:2403982-2403983	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554175617	chr9:2404015-2404016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4372054	chr9:2404016-2404017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536829674	chr9:2404147-2404148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191398896	chr9:2404163-2404164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4281156	chr9:2404164-2404165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183156814	chr9:2404180-2404181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76602198	chr9:2404207-2404208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4740680	chr9:2404218-2404219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs572428378	chr9:2404242-2404243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540157825	chr9:2404244-2404245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187308790	chr9:2404246-2404247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560367033	chr9:2404257-2404258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529093351	chr9:2404259-2404260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549145653	chr9:2404272-2404273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562472203	chr9:2404315-2404316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531303839	chr9:2404329-2404330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543919408	chr9:2404336-2404337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551004470	chr9:2404344-2404345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570922643	chr9:2404350-2404351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533500345	chr9:2404365-2404366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35243135	chr9:2404366-2404367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62531098	chr9:2404373-2404374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547799145	chr9:2404374-2404375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62531099	chr9:2404375-2404376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146961766	chr9:2404414-2404415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536470963	chr9:2404437-2404438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4741699	chr9:2404459-2404460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs71329417	chr9:2404475-2404476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574720039	chr9:2404476-2404477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs398113151	chr9:2404485-2404486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576649474	chr9:2404548-2404549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4741700	chr9:2404563-2404564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs79490835	chr9:2404583-2404584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4741701	chr9:2404608-2404609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs371132310	chr9:2404616-2404617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560221774	chr9:2404658-2404659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573858639	chr9:2404666-2404667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138048840	chr9:2404720-2404721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562335127	chr9:2404738-2404739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190601882	chr9:2404760-2404761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79943679	chr9:2404772-2404773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565446734	chr9:2404823-2404824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531200334	chr9:2404831-2404832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374550359	chr9:2404841-2404842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182955955	chr9:2404843-2404844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35698525	chr9:2404846-2404847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567909327	chr9:2404849-2404850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Esophageal cancer	21851588	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
Schizophrenia	23813976	CNVD

Chromatin state (count:233 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2403600-2404000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:2403800-2404000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:2403800-2404000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:2404000-2404400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:2404000-2406200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:2406200-2411400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:2406400-2406800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:2406400-2406800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:2406400-2407000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:2406800-2407600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:2406800-2407600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:2407000-2407600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:2407600-2407800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:2407600-2407800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:2407600-2407800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:2407600-2411400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr9:2407800-2409200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:2407800-2412800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:2407800-2418800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:2411200-2413000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:2411200-2413000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr9:2411200-2413400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr9:2411200-2413400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr9:2411400-2412000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr9:2411400-2412000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:2411400-2412200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr9:2411400-2412200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr9:2411400-2412200	Enhancers	HSMMtube	muscle
29	chr9:2411400-2412400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:2411400-2412400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:2411400-2412400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr9:2411400-2412600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr9:2411400-2412800	Enhancers	Adipose Nuclei	Adipose
34	chr9:2411400-2413000	Enhancers	Brain Angular Gyrus	brain
35	chr9:2411400-2413000	Enhancers	Brain Cingulate Gyrus	brain
36	chr9:2411400-2413200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr9:2411400-2413400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr9:2411400-2413400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:2411400-2413600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:2411400-2414600	Enhancers	Fetal Kidney	kidney
41	chr9:2411400-2414800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:2411600-2412400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:2411600-2412800	Enhancers	Brain Substantia Nigra	brain
44	chr9:2411600-2413000	Enhancers	Brain Anterior Caudate	brain
45	chr9:2411600-2413000	Enhancers	Brain Hippocampus Middle	brain
46	chr9:2411600-2413800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr9:2411800-2412000	Enhancers	Placenta	Placenta
48	chr9:2411800-2412000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr9:2411800-2412200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:2411800-2412400	Enhancers	Muscle Satellite Cultured Cells	--

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