Variant report

Variant	nsv1019823
Chromosome Location	chr9:12316941-12483580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:12425929..12426463-chr9:12464660..12465379,2	MCF-7	breast:
2	chr9:10855600..10856394-chr9:12425953..12426703,2	MCF-7	breast:
3	chr8:43095234..43095797-chr9:12480274..12480774,2	MCF-7	breast:
4	chr9:10855828..10856443-chr9:12329128..12329639,2	MCF-7	breast:
5	chr6:116381055..116381867-chr9:12405688..12406208,2	Hela-S3	cervix:
6	chr9:12425929..12426463-chr9:12464660..12465379,2	MCF-7	breast:
7	chr1:186649939..186650766-chr9:12429991..12430491,2	Hela-S3	cervix:
8	chr9:10365979..10366914-chr9:12329143..12329893,2	MCF-7	breast:

Extended variants
information (count: 3013 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:3013 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549852760	chr9:12316973-12316974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367747775	chr9:12316974-12316975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73412997	chr9:12317044-12317045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188743344	chr9:12317058-12317059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556327568	chr9:12317108-12317109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148553580	chr9:12317128-12317129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534166262	chr9:12317143-12317144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555223974	chr9:12317157-12317158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376791755	chr9:12317173-12317174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181945353	chr9:12317176-12317177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566462082	chr9:12318806-12318807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111559103	chr9:12318850-12318851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573668492	chr9:12318851-12318852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542674003	chr9:12318852-12318853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553091371	chr9:12318864-12318865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7853283	chr9:12318876-12318877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545826258	chr9:12318888-12318889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568954817	chr9:12318897-12318898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370340292	chr9:12318899-12318900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374499012	chr9:12318940-12318941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79453058	chr9:12318941-12318942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7853736	chr9:12318994-12318995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565044455	chr9:12318998-12318999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183451807	chr9:12319042-12319043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576429432	chr9:12319044-12319045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112309477	chr9:12319053-12319054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544486842	chr9:12319063-12319064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561076891	chr9:12319166-12319167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561688640	chr9:12319227-12319228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529227606	chr9:12319238-12319239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548999484	chr9:12319241-12319242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565751501	chr9:12319249-12319250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10960592	chr9:12319300-12319301	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs148291007	chr9:12319328-12319329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35310018	chr9:12319350-12319351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371219512	chr9:12319368-12319369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10960593	chr9:12319374-12319375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7029184	chr9:12319376-12319377	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557627903	chr9:12319386-12319387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7856974	chr9:12319407-12319408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371840150	chr9:12319419-12319420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189005177	chr9:12319428-12319429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549485799	chr9:12319445-12319446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs16928679	chr9:12319485-12319486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141589237	chr9:12319487-12319488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12684231	chr9:12319507-12319508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558410120	chr9:12319531-12319532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75207133	chr9:12319584-12319585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117032685	chr9:12319605-12319606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565758954	chr9:12319626-12319627	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Chordoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12314400-12317200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:12318800-12319800	Enhancers	Adipose Nuclei	Adipose
3	chr9:12324000-12324400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:12324400-12329000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:12328800-12329000	Enhancers	Liver	Liver
6	chr9:12328800-12329000	Enhancers	Pancreas	Pancrea
7	chr9:12329000-12329200	Enhancers	Adipose Nuclei	Adipose
8	chr9:12329000-12329200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr9:12329000-12329200	Enhancers	Fetal Muscle Trunk	muscle
10	chr9:12329000-12329400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:12329000-12329400	Flanking Active TSS	Liver	Liver
12	chr9:12329000-12329600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr9:12329000-12329600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:12329000-12329600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr9:12329000-12329600	Flanking Active TSS	Pancreas	Pancrea
16	chr9:12329000-12329600	Active TSS	HepG2	liver
17	chr9:12329200-12329400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr9:12329200-12329400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr9:12329200-12329600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:12329200-12329600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:12329200-12329600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:12329200-12329600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:12329200-12329600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:12329200-12329600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:12329200-12329600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr9:12329200-12329600	Active TSS	Brain Angular Gyrus	brain
27	chr9:12329200-12329600	Active TSS	Brain Cingulate Gyrus	brain
28	chr9:12329200-12329600	Active TSS	Brain Hippocampus Middle	brain
29	chr9:12329200-12329600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr9:12329200-12329600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:12329200-12329600	Active TSS	Brain Substantia Nigra	brain
32	chr9:12329200-12329600	Active TSS	Fetal Kidney	kidney
33	chr9:12329200-12329600	Enhancers	Fetal Lung	lung
34	chr9:12329200-12329600	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr9:12329200-12329600	Enhancers	Gastric	stomach
36	chr9:12329200-12329600	Enhancers	Lung	lung
37	chr9:12329200-12329600	Active TSS	Right Atrium	heart
38	chr9:12329200-12329600	Active TSS	Stomach Smooth Muscle	stomach
39	chr9:12329200-12329600	Enhancers	HUVEC	blood vessel
40	chr9:12329400-12329600	Active TSS	Liver	Liver
41	chr9:12329400-12329600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr9:12329400-12329600	Enhancers	Fetal Muscle Leg	muscle
43	chr9:12334000-12334200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr9:12340600-12341000	Enhancers	Liver	Liver
45	chr9:12350800-12352400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:12351600-12352800	Enhancers	Fetal Brain Male	brain
47	chr9:12354400-12354600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:12354600-12357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:12357400-12357600	Genic enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:12357600-12360800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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