Variant report

Variant	nsv892020
Chromosome Location	chr9:1189365-1265994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:1197110..1199229-chr9:1201325..1204281,3	MCF-7	breast:
2	chr9:1199075..1201039-chr9:1246978..1249972,2	K562	blood:
3	chr9:1207734..1210015-chr9:1211203..1213257,2	MCF-7	breast:
4	chr9:1050736..1051474-chr9:1211377..1212172,7	MCF-7	breast:
5	chr9:1050662..1052458-chr9:1210912..1212810,2	MCF-7	breast:
6	chr9:1049962..1051601-chr9:1206448..1208602,2	MCF-7	breast:
7	chr9:1196174..1202144-chr9:1204882..1208508,8	MCF-7	breast:
8	chr9:1050299..1051218-chr9:1211358..1212168,3	MCF-7	breast:
9	chr17:35897413..35898334-chr9:1234312..1235126,2	MCF-7	breast:
10	chr9:1199075..1201039-chr9:1246978..1249972,2	K562	blood:
11	chr9:1048582..1050101-chr9:1206689..1209470,2	MCF-7	breast:
12	chr9:1048591..1051547-chr9:1195558..1198367,2	MCF-7	breast:
13	chr9:1207734..1210015-chr9:1211203..1213257,2	MCF-7	breast:
14	chr9:1197110..1199229-chr9:1201325..1204281,3	MCF-7	breast:
15	chr9:1196174..1202144-chr9:1204882..1208508,8	MCF-7	breast:
16	chr9:1049307..1051830-chr9:1209993..1212929,2	MCF-7	breast:
17	chr9:1196784..1199122-chr9:1220785..1223370,2	MCF-7	breast:
18	chr9:1050050..1050882-chr9:1198084..1198894,4	MCF-7	breast:
19	chr9:1050169..1051008-chr9:1198034..1198952,5	MCF-7	breast:
20	chr9:1196784..1199122-chr9:1220785..1223370,2	MCF-7	breast:
21	chr9:1050302..1051381-chr9:1211162..1212085,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173253	chromatin interactions
ENSG00000006114	chromatin interactions

Extended variants
information (count: 3313 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:3313 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113893655	chr9:1195559-1195560	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544430641	chr9:1195560-1195561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547073424	chr9:1195566-1195567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532113387	chr9:1195579-1195580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545841062	chr9:1195587-1195588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559087545	chr9:1195590-1195591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528063303	chr9:1195625-1195626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190595251	chr9:1195646-1195647	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372536366	chr9:1195654-1195655	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568401189	chr9:1195678-1195679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182885368	chr9:1195763-1195764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7850004	chr9:1195778-1195779	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187991965	chr9:1195795-1195796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200735400	chr9:1195824-1195825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372504395	chr9:1195826-1195827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553386334	chr9:1195841-1195842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192857748	chr9:1195902-1195903	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535875462	chr9:1195903-1195904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568280043	chr9:1195908-1195909	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575578671	chr9:1195912-1195913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544491888	chr9:1195919-1195920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs557935913	chr9:1195928-1195929	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs578087263	chr9:1195929-1195930	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545600255	chr9:1195946-1195947	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201208254	chr9:1195955-1195956	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559367651	chr9:1196006-1196007	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528160843	chr9:1196037-1196038	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554943099	chr9:1196050-1196051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142349966	chr9:1196055-1196056	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547604619	chr9:1196056-1196057	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145981729	chr9:1196071-1196072	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564278317	chr9:1196073-1196074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533122382	chr9:1196076-1196077	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546461040	chr9:1196116-1196117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566982374	chr9:1196135-1196136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535574911	chr9:1196137-1196138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs138578724	chr9:1196145-1196146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568868620	chr9:1196173-1196174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539486862	chr9:1196178-1196179	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10081669	chr9:1196187-1196188	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557999216	chr9:1196206-1196207	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141538012	chr9:1196211-1196212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534440160	chr9:1196212-1196213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs554054117	chr9:1196232-1196233	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150884616	chr9:1196240-1196241	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541937713	chr9:1196254-1196255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10081654	chr9:1196281-1196282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73640297	chr9:1196285-1196286	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372199401	chr9:1196289-1196290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184412198	chr9:1196291-1196292	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	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
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
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
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
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
Pancreatic ductal adenocarcinoma	19077451	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
Cancer	21272361	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1197400-1198000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr9:1197600-1197800	Enhancers	Esophagus	oesophagus
3	chr9:1197600-1198600	Enhancers	NHDF-Ad	bronchial
4	chr9:1197600-1198800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:1197600-1198800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr9:1197800-1198800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:1197800-1198800	Weak transcription	Esophagus	oesophagus
8	chr9:1198000-1198400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:1198400-1199200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr9:1198800-1199000	Enhancers	Psoas Muscle	Psoas
11	chr9:1198800-1199800	Enhancers	Esophagus	oesophagus
12	chr9:1198800-1200800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:1198800-1202600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:1199400-1199600	Enhancers	Brain Substantia Nigra	brain
15	chr9:1199400-1200600	Weak transcription	Psoas Muscle	Psoas
16	chr9:1199800-1200600	Weak transcription	Esophagus	oesophagus
17	chr9:1200000-1203600	Enhancers	Liver	Liver
18	chr9:1200400-1201400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr9:1200600-1201600	Enhancers	Esophagus	oesophagus
20	chr9:1200600-1201600	Enhancers	Fetal Lung	lung
21	chr9:1200600-1201600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr9:1200600-1201800	Enhancers	HepG2	liver
23	chr9:1200600-1202200	Enhancers	Fetal Muscle Leg	muscle
24	chr9:1200600-1202200	Enhancers	Pancreas	Pancrea
25	chr9:1200600-1203000	Enhancers	Psoas Muscle	Psoas
26	chr9:1200800-1201200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:1200800-1201400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:1201000-1201600	Enhancers	Adipose Nuclei	Adipose
29	chr9:1201000-1201600	Enhancers	Gastric	stomach
30	chr9:1201000-1202000	Enhancers	Fetal Brain Male	brain
31	chr9:1201000-1202000	Enhancers	Fetal Muscle Trunk	muscle
32	chr9:1201000-1202000	Enhancers	Lung	lung
33	chr9:1201000-1202200	Enhancers	Left Ventricle	heart
34	chr9:1201200-1201600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:1201200-1202800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:1201400-1202000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr9:1201400-1202400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:1201600-1202600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr9:1201600-1202800	Weak transcription	Adipose Nuclei	Adipose
40	chr9:1201600-1209400	Weak transcription	Gastric	stomach
41	chr9:1202000-1202400	Weak transcription	Fetal Brain Male	brain
42	chr9:1202000-1203000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr9:1202400-1203400	Enhancers	Fetal Brain Male	brain
44	chr9:1202400-1203800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:1202600-1202800	Weak transcription	Brain Substantia Nigra	brain
46	chr9:1202600-1203000	Enhancers	Brain Cingulate Gyrus	brain
47	chr9:1202600-1203000	Enhancers	Brain Germinal Matrix	brain
48	chr9:1202600-1203000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr9:1202600-1203400	Enhancers	NHDF-Ad	bronchial
50	chr9:1202600-1203600	Enhancers	Muscle Satellite Cultured Cells	--

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