Variant report

Variant	nsv892681
Chromosome Location	chr9:18127068-18250459
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:17811052..17811931-chr9:18212974..18213863,4	MCF-7	breast:
2	chr9:17531412..17532247-chr9:18212958..18213842,2	MCF-7	breast:
3	chr9:18189998..18192028-chr9:18194754..18196298,2	MCF-7	breast:
4	chr9:18149518..18150319-chr9:18207841..18208492,3	MCF-7	breast:
5	chr9:17528534..17529118-chr9:18207797..18208372,2	MCF-7	breast:
6	chr9:18149518..18150319-chr9:18207841..18208492,3	MCF-7	breast:
7	chr9:18016854..18017748-chr9:18207853..18208432,2	MCF-7	breast:
8	chr9:17810712..17811652-chr9:18207926..18208828,3	MCF-7	breast:
9	chr9:18189998..18192028-chr9:18194754..18196298,2	MCF-7	breast:
10	chr9:18211031..18213386-chr9:18220463..18223215,2	MCF-7	breast:
11	chr1:121482984..121485223-chr9:18152239..18154322,2	MCF-7	breast:
12	chr9:17810623..17811776-chr9:18207859..18208526,4	MCF-7	breast:
13	chr9:18211031..18213386-chr9:18220463..18223215,2	MCF-7	breast:

No data

Extended variants
information (count: 4080 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:4080 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10810904	chr9:18127068-18127069	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563603672	chr9:18127074-18127075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540497528	chr9:18127085-18127086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562059735	chr9:18127088-18127089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191762975	chr9:18127102-18127103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146189258	chr9:18127143-18127144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75929091	chr9:18127245-18127246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377558954	chr9:18127257-18127258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75788277	chr9:18127292-18127293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566418627	chr9:18127298-18127299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527297547	chr9:18127328-18127329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549031456	chr9:18127345-18127346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185127876	chr9:18127349-18127350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140173114	chr9:18127364-18127365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114037056	chr9:18127370-18127371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571362234	chr9:18127375-18127376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374359560	chr9:18127384-18127385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367972385	chr9:18127399-18127400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78027841	chr9:18127469-18127470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201007196	chr9:18127480-18127481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369598719	chr9:18127503-18127504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200653475	chr9:18127515-18127516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557992562	chr9:18127517-18127518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572867324	chr9:18127519-18127520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71333028	chr9:18127520-18127521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79183806	chr9:18127542-18127543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555370557	chr9:18127546-18127547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143928660	chr9:18127642-18127643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80113686	chr9:18127674-18127675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12347507	chr9:18127679-18127680	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533367801	chr9:18127693-18127694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188544444	chr9:18127697-18127698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556540351	chr9:18127698-18127699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146363621	chr9:18127774-18127775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74433581	chr9:18127790-18127791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548994841	chr9:18127822-18127823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567310391	chr9:18127826-18127827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557107665	chr9:18127859-18127860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193252958	chr9:18127885-18127886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185667866	chr9:18127919-18127920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188226046	chr9:18127920-18127921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139379318	chr9:18127956-18127957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150037750	chr9:18127966-18127967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567272328	chr9:18127971-18127972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553967528	chr9:18127975-18127976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566605882	chr9:18127990-18127991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2067720	chr9:18128001-18128002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555333865	chr9:18128012-18128013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10963460	chr9:18128046-18128047	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs180742625	chr9:18128069-18128070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18116000-18127600	Weak transcription	Aorta	Aorta
2	chr9:18120600-18129600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:18126000-18127600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:18126200-18127400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:18126400-18127800	Enhancers	Fetal Muscle Leg	muscle
6	chr9:18126400-18130600	Enhancers	Colon Smooth Muscle	Colon
7	chr9:18126600-18129200	Enhancers	Stomach Smooth Muscle	stomach
8	chr9:18127000-18127400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:18127000-18127600	Enhancers	Brain Substantia Nigra	brain
10	chr9:18127000-18127800	Enhancers	Fetal Brain Male	brain
11	chr9:18127000-18127800	Enhancers	Fetal Stomach	stomach
12	chr9:18127000-18128600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr9:18127000-18128600	Enhancers	Ovary	ovary
14	chr9:18127000-18128600	Enhancers	Rectal Smooth Muscle	rectum
15	chr9:18127200-18129800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:18127600-18127800	Enhancers	Aorta	Aorta
17	chr9:18127600-18129800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:18127800-18138400	Weak transcription	Aorta	Aorta
19	chr9:18128400-18128600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:18128600-18129600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr9:18128600-18129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:18128600-18129800	Weak transcription	Ovary	ovary
23	chr9:18128600-18133600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:18129200-18129600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr9:18129600-18130000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr9:18129600-18131000	Enhancers	Stomach Smooth Muscle	stomach
27	chr9:18129800-18130000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:18129800-18130200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr9:18129800-18130200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:18129800-18130200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:18129800-18130200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr9:18129800-18130200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:18129800-18130200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr9:18129800-18130200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:18129800-18130200	Enhancers	Ovary	ovary
36	chr9:18129800-18130400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr9:18130000-18135800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr9:18130600-18132600	Weak transcription	Colon Smooth Muscle	Colon
39	chr9:18131000-18134000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr9:18132600-18132800	Enhancers	Colon Smooth Muscle	Colon
41	chr9:18132800-18133200	Weak transcription	Colon Smooth Muscle	Colon
42	chr9:18133200-18137200	Enhancers	Colon Smooth Muscle	Colon
43	chr9:18133600-18134200	Enhancers	Rectal Smooth Muscle	rectum
44	chr9:18134000-18135000	Enhancers	Stomach Smooth Muscle	stomach
45	chr9:18134200-18135200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr9:18134400-18135000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:18134800-18135000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr9:18135000-18135600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr9:18135000-18136200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:18135000-18136200	Weak transcription	Stomach Smooth Muscle	stomach

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