Variant report

Variant	esv3341772
Chromosome Location	chr9:85176432-85180630
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	chr9:85175623..85178323-chr9:85178336..85181023,3	MCF-7	breast:
2	chr9:85175623..85178323-chr9:85178336..85181023,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASEF-3	chr9:85177785-85178040	NONHSAT132724
2	lnc-FAM75D1-4	chr9:85178944-85179347	NONHSAT132722
3	lnc-FAM75D1-4	chr9:85178944-85179347	ENSG00000228430.4

Extended variants
information (count: 160 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117092008	chr9:85176545-85176546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185593462	chr9:85176591-85176592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561669297	chr9:85176606-85176607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547752120	chr9:85176625-85176626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528771430	chr9:85176627-85176628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547248544	chr9:85176638-85176639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371181167	chr9:85176665-85176666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565451788	chr9:85176672-85176673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528887232	chr9:85176703-85176704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374875254	chr9:85176719-85176720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367581587	chr9:85176728-85176729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568853248	chr9:85176744-85176745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576689892	chr9:85176875-85176876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139817387	chr9:85176877-85176878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547855378	chr9:85176886-85176887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7046640	chr9:85176894-85176895	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537253661	chr9:85176895-85176896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377001153	chr9:85176896-85176897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs386735628	chr9:85176897-85176898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188561842	chr9:85176899-85176900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556747255	chr9:85176918-85176919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193088981	chr9:85176930-85176931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376286166	chr9:85176932-85176933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74981351	chr9:85176948-85176949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557468959	chr9:85177064-85177065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575643585	chr9:85177176-85177177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543034403	chr9:85177187-85177188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554649078	chr9:85177207-85177208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549366146	chr9:85177253-85177254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573603103	chr9:85177279-85177280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143222701	chr9:85177280-85177281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565491388	chr9:85177304-85177305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532798542	chr9:85177311-85177312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569132277	chr9:85177328-85177329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548630363	chr9:85177335-85177336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184795346	chr9:85177438-85177439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562631001	chr9:85177450-85177451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2152838	chr9:85177464-85177465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548185763	chr9:85177488-85177489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189656214	chr9:85177489-85177490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572063906	chr9:85177492-85177493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551446850	chr9:85177520-85177521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146709886	chr9:85177525-85177526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2184938	chr9:85177562-85177563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537692608	chr9:85177575-85177576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534125072	chr9:85177601-85177602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553903780	chr9:85177614-85177615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569365544	chr9:85177709-85177710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59612456	chr9:85177710-85177711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs180944514	chr9:85177724-85177725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Epilepsy	20502679	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85170000-85176800	Enhancers	HepG2	liver
2	chr9:85170800-85177000	Enhancers	Stomach Mucosa	stomach
3	chr9:85174600-85178400	Weak transcription	Fetal Kidney	kidney
4	chr9:85175000-85180200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:85175800-85178400	Weak transcription	Fetal Lung	lung
6	chr9:85175800-85178600	Weak transcription	Fetal Intestine Small	intestine
7	chr9:85175800-85178600	Weak transcription	Pancreas	Pancrea
8	chr9:85176000-85178600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr9:85176000-85180200	Weak transcription	Liver	Liver
10	chr9:85178000-85178600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr9:85178400-85178600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:85178400-85178600	Bivalent/Poised TSS	Fetal Lung	lung
13	chr9:85178400-85179000	ZNF genes & repeats	Fetal Kidney	kidney
14	chr9:85178600-85178800	Active TSS	Fetal Lung	lung
15	chr9:85178600-85178800	ZNF genes & repeats	Pancreas	Pancrea
16	chr9:85178600-85178800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
17	chr9:85178800-85179000	Weak transcription	Pancreas	Pancrea
18	chr9:85178800-85180400	Weak transcription	Fetal Lung	lung
19	chr9:85179000-85180200	Weak transcription	Fetal Kidney	kidney
20	chr9:85180000-85180600	Enhancers	Rectal Smooth Muscle	rectum
21	chr9:85180000-85181200	Enhancers	Fetal Muscle Leg	muscle
22	chr9:85180000-85181200	Enhancers	Fetal Stomach	stomach
23	chr9:85180200-85180400	Enhancers	Fetal Kidney	kidney
24	chr9:85180200-85180600	Enhancers	Liver	Liver
25	chr9:85180200-85181000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:85180200-85181200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:85180200-85181200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:85180200-85181200	Enhancers	Colon Smooth Muscle	Colon
29	chr9:85180400-85180600	Enhancers	Fetal Lung	lung
30	chr9:85180400-85180800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr9:85180400-85180800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:85180400-85181000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:85180400-85181200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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