Variant report

Variant	nsv613698
Chromosome Location	chr9:17457854-17488111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:17116233..17116835-chr9:17462927..17463473,2	MCF-7	breast:
2	chr9:17116046..17116795-chr9:17462771..17463533,2	MCF-7	breast:
3	chr9:17063303..17064146-chr9:17462547..17463504,3	MCF-7	breast:
4	chr9:17219048..17219921-chr9:17462587..17463121,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3GL2-2	chr9:17462914-17462982	NONHSAT130301

Extended variants
information (count: 1262 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1262 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2197152	chr9:17457854-17457855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189987420	chr9:17457860-17457861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78079907	chr9:17457863-17457864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76643731	chr9:17457864-17457865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571159219	chr9:17457887-17457888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554910200	chr9:17457920-17457921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375407734	chr9:17457958-17457959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534290983	chr9:17457961-17457962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77610326	chr9:17457975-17457976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182571984	chr9:17457976-17457977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142049392	chr9:17457990-17457991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556682579	chr9:17457991-17457992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146292206	chr9:17457992-17457993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2197153	chr9:17458027-17458028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138237271	chr9:17458037-17458038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571190112	chr9:17458038-17458039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528409138	chr9:17458111-17458112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188394534	chr9:17458133-17458134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192856177	chr9:17458136-17458137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530159263	chr9:17458159-17458160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553799888	chr9:17458186-17458187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548699253	chr9:17458196-17458197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183844568	chr9:17458205-17458206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530998185	chr9:17458206-17458207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372988826	chr9:17458219-17458220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552607442	chr9:17458220-17458221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552755543	chr9:17458227-17458228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114787510	chr9:17458228-17458229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142789989	chr9:17458248-17458249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144124008	chr9:17458249-17458250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2383015	chr9:17458334-17458335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188732442	chr9:17458344-17458345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535106769	chr9:17458365-17458366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192548909	chr9:17458451-17458452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575010709	chr9:17458463-17458464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545651390	chr9:17458480-17458481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111814187	chr9:17458528-17458529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573012384	chr9:17458533-17458534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545364993	chr9:17458566-17458567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113186935	chr9:17458590-17458591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562011069	chr9:17458619-17458620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530095467	chr9:17458627-17458628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542278735	chr9:17458695-17458696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117739076	chr9:17458703-17458704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369616608	chr9:17458724-17458725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530830632	chr9:17458757-17458758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10756880	chr9:17458772-17458773	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571036335	chr9:17458773-17458774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183607657	chr9:17458775-17458776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528724917	chr9:17458787-17458788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17411800-17481000	Weak transcription	Aorta	Aorta
2	chr9:17426400-17466800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr9:17439400-17466800	Weak transcription	NHDF-Ad	bronchial
4	chr9:17440400-17494600	Weak transcription	Left Ventricle	heart
5	chr9:17441200-17458000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr9:17441200-17467000	Weak transcription	Adipose Nuclei	Adipose
7	chr9:17441400-17466800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:17442000-17491800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:17442200-17467200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:17446000-17467400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr9:17448000-17466800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:17448000-17503400	Weak transcription	Ovary	ovary
13	chr9:17448400-17496400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:17448600-17495800	Weak transcription	Dnd41	blood
15	chr9:17452800-17495600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:17453000-17472200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:17453000-17497000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr9:17453800-17466800	Weak transcription	Fetal Lung	lung
19	chr9:17453800-17504200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:17454000-17491800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:17455600-17503000	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:17456000-17466000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr9:17457200-17477200	Weak transcription	Colon Smooth Muscle	Colon
24	chr9:17457600-17458800	Strong transcription	Liver	Liver
25	chr9:17457600-17469400	Weak transcription	Fetal Intestine Large	intestine
26	chr9:17457800-17475000	Weak transcription	Fetal Heart	heart
27	chr9:17458000-17458800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr9:17458800-17465000	Weak transcription	Liver	Liver
29	chr9:17458800-17465800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr9:17458800-17500400	Weak transcription	HUVEC	blood vessel
31	chr9:17459000-17470000	Weak transcription	Osteobl	bone
32	chr9:17460600-17496200	Weak transcription	HSMM	muscle
33	chr9:17460800-17461400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:17461400-17472000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:17462200-17462400	Enhancers	A549	lung
36	chr9:17462200-17462600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr9:17462200-17463000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr9:17462400-17468600	Weak transcription	A549	lung
39	chr9:17463000-17466600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr9:17464600-17471000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:17465000-17470200	Strong transcription	Liver	Liver
42	chr9:17465000-17487400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr9:17465400-17467600	Weak transcription	HMEC	breast
44	chr9:17465400-17469600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr9:17465800-17468000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr9:17465800-17468200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr9:17466000-17468200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr9:17466000-17468400	Weak transcription	Placenta	Placenta
49	chr9:17466200-17468800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:17466600-17467600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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