Variant report

Variant	nsv892566
Chromosome Location	chr9:12322504-12388022
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	chr9:10855828..10856443-chr9:12329128..12329639,2	MCF-7	breast:
2	chr9:10365979..10366914-chr9:12329143..12329893,2	MCF-7	breast:

Extended variants
information (count: 1066 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1066 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185822163	chr9:12324026-12324027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550196016	chr9:12324032-12324033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544909549	chr9:12324040-12324041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7027308	chr9:12324047-12324048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535797681	chr9:12324076-12324077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190243268	chr9:12324110-12324111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549364978	chr9:12324116-12324117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544105589	chr9:12324118-12324119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139285694	chr9:12324125-12324126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77208489	chr9:12324155-12324156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529287033	chr9:12324170-12324171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10809752	chr9:12324197-12324198	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10960595	chr9:12324205-12324206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7027664	chr9:12324222-12324223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs551648055	chr9:12324225-12324226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550063163	chr9:12324241-12324242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142371060	chr9:12324252-12324253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537693421	chr9:12324253-12324254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181119708	chr9:12324283-12324284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73648126	chr9:12324285-12324286	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs73414914	chr9:12324299-12324300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs118019626	chr9:12324301-12324302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117909360	chr9:12324308-12324309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186969146	chr9:12324341-12324342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558424177	chr9:12324355-12324356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369584649	chr9:12324388-12324389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547252121	chr9:12324397-12324398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575108827	chr9:12324440-12324441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151273020	chr9:12324441-12324442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116133731	chr9:12324455-12324456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573675472	chr9:12324484-12324485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542687527	chr9:12324491-12324492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191462667	chr9:12324498-12324499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528550085	chr9:12324534-12324535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184103180	chr9:12324646-12324647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539148953	chr9:12324666-12324667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140477879	chr9:12324712-12324713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531169459	chr9:12324767-12324768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77086173	chr9:12324768-12324769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35081723	chr9:12324776-12324777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12351332	chr9:12324830-12324831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530433318	chr9:12324891-12324892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148792849	chr9:12324908-12324909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546252553	chr9:12324910-12324911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111647802	chr9:12324927-12324928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201836595	chr9:12324946-12324947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566469459	chr9:12324963-12324964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538316916	chr9:12324967-12324968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7032071	chr9:12325012-12325013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568706536	chr9:12325027-12325028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12324000-12324400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:12324400-12329000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr9:12328800-12329000	Enhancers	Liver	Liver
4	chr9:12328800-12329000	Enhancers	Pancreas	Pancrea
5	chr9:12329000-12329200	Enhancers	Adipose Nuclei	Adipose
6	chr9:12329000-12329200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr9:12329000-12329200	Enhancers	Fetal Muscle Trunk	muscle
8	chr9:12329000-12329400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:12329000-12329400	Flanking Active TSS	Liver	Liver
10	chr9:12329000-12329600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr9:12329000-12329600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:12329000-12329600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr9:12329000-12329600	Flanking Active TSS	Pancreas	Pancrea
14	chr9:12329000-12329600	Active TSS	HepG2	liver
15	chr9:12329200-12329400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:12329200-12329400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr9:12329200-12329600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:12329200-12329600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:12329200-12329600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:12329200-12329600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:12329200-12329600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:12329200-12329600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:12329200-12329600	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr9:12329200-12329600	Active TSS	Brain Angular Gyrus	brain
25	chr9:12329200-12329600	Active TSS	Brain Cingulate Gyrus	brain
26	chr9:12329200-12329600	Active TSS	Brain Hippocampus Middle	brain
27	chr9:12329200-12329600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr9:12329200-12329600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:12329200-12329600	Active TSS	Brain Substantia Nigra	brain
30	chr9:12329200-12329600	Active TSS	Fetal Kidney	kidney
31	chr9:12329200-12329600	Enhancers	Fetal Lung	lung
32	chr9:12329200-12329600	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr9:12329200-12329600	Enhancers	Gastric	stomach
34	chr9:12329200-12329600	Enhancers	Lung	lung
35	chr9:12329200-12329600	Active TSS	Right Atrium	heart
36	chr9:12329200-12329600	Active TSS	Stomach Smooth Muscle	stomach
37	chr9:12329200-12329600	Enhancers	HUVEC	blood vessel
38	chr9:12329400-12329600	Active TSS	Liver	Liver
39	chr9:12329400-12329600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr9:12329400-12329600	Enhancers	Fetal Muscle Leg	muscle
41	chr9:12334000-12334200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr9:12340600-12341000	Enhancers	Liver	Liver
43	chr9:12350800-12352400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:12351600-12352800	Enhancers	Fetal Brain Male	brain
45	chr9:12354400-12354600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:12354600-12357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:12357400-12357600	Genic enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:12357600-12360800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:12360200-12362400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:12362000-12362400	Enhancers	HUES64 Cell Line	embryonic stem cell

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