Variant report

Variant	nsv892042
Chromosome Location	chr9:1721385-1762597
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	chr9:1721060..1723569-chr9:1724371..1726152,2	MCF-7	breast:
2	chr9:1721060..1723569-chr9:1724371..1726152,2	MCF-7	breast:

Extended variants
information (count: 1921 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1921 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2616830	chr9:1721385-1721386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116253734	chr9:1721390-1721391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540353557	chr9:1721396-1721397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560321029	chr9:1721410-1721411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528972879	chr9:1721420-1721421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542896261	chr9:1721428-1721429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75143210	chr9:1721429-1721430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373298118	chr9:1721453-1721454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532080278	chr9:1721461-1721462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373478162	chr9:1721471-1721472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10118163	chr9:1721476-1721477	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1478110	chr9:1721478-1721479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
13	rs144578696	chr9:1721496-1721497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547371059	chr9:1721510-1721511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145389106	chr9:1721568-1721569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370248809	chr9:1721597-1721598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191133816	chr9:1721604-1721605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556774985	chr9:1721611-1721612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116936266	chr9:1721629-1721630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149144095	chr9:1721631-1721632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79685522	chr9:1721638-1721639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1841923	chr9:1721640-1721641	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs529771562	chr9:1721645-1721646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540299591	chr9:1721661-1721662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77342268	chr9:1721672-1721673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77742838	chr9:1721675-1721676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376100788	chr9:1721694-1721695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370421075	chr9:1721699-1721700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199627470	chr9:1721710-1721711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375193382	chr9:1721727-1721728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532121962	chr9:1721753-1721754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2616829	chr9:1721778-1721779	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs555907685	chr9:1721783-1721784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10118911	chr9:1721784-1721785	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562728346	chr9:1721787-1721788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531560582	chr9:1721792-1721793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182204583	chr9:1721806-1721807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143226116	chr9:1721818-1721819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76200963	chr9:1721821-1721822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548372788	chr9:1721822-1721823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527958269	chr9:1721842-1721843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547434356	chr9:1721848-1721849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568247268	chr9:1721887-1721888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368683697	chr9:1721889-1721890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10118308	chr9:1721907-1721908	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs151282963	chr9:1721916-1721917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2783991	chr9:1721918-1721919	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs568981298	chr9:1721929-1721930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2616828	chr9:1721933-1721934	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539773792	chr9:1721948-1721949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1718000-1736800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1721400-1722400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr9:1721400-1722600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr9:1721600-1723400	Enhancers	Stomach Mucosa	stomach
5	chr9:1722400-1722600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr9:1722400-1727200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:1722600-1727400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr9:1723600-1724800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:1724400-1725800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:1724800-1726600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:1725600-1726600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr9:1725800-1726000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:1726000-1726600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr9:1726000-1727200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:1726600-1726800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:1726600-1727000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr9:1726600-1727200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr9:1727000-1727400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr9:1727000-1727600	Enhancers	GM12878-XiMat	blood
20	chr9:1727200-1727400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:1727200-1727400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr9:1727200-1727600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr9:1727400-1727600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr9:1736800-1737000	Enhancers	Adipose Nuclei	Adipose
25	chr9:1737000-1738200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:1738000-1738200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:1738200-1738400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:1738200-1738800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:1738400-1738600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:1738600-1739400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:1739400-1739600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:1739600-1740200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:1740200-1740400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:1740400-1741600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:1742000-1742600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:1742600-1745200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:1743600-1744200	Enhancers	Fetal Brain Female	brain
38	chr9:1744000-1744400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:1747600-1748000	ZNF genes & repeats	GM12878-XiMat	blood
40	chr9:1748000-1748400	Enhancers	GM12878-XiMat	blood
41	chr9:1757200-1757800	Enhancers	Fetal Muscle Leg	muscle
42	chr9:1757800-1759200	Weak transcription	Fetal Muscle Leg	muscle
43	chr9:1758600-1758800	ZNF genes & repeats	GM12878-XiMat	blood
44	chr9:1758800-1759000	Flanking Active TSS	GM12878-XiMat	blood
45	chr9:1759000-1759400	Enhancers	Ovary	ovary
46	chr9:1759000-1759800	Active TSS	GM12878-XiMat	blood
47	chr9:1759200-1759400	Enhancers	Fetal Muscle Trunk	muscle
48	chr9:1759200-1760000	Enhancers	Fetal Muscle Leg	muscle
49	chr9:1759200-1760400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr9:1759200-1760400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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