Variant report

Variant	esv2756453
Chromosome Location	chr9:1469726-1521527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
2	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
3	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
4	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
5	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:

Extended variants
information (count: 3276 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:3276 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10120587	chr9:1469726-1469727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375933148	chr9:1469754-1469755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73640463	chr9:1469783-1469784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138104124	chr9:1469784-1469785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180763679	chr9:1469831-1469832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183689673	chr9:1469846-1469847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188408079	chr9:1469891-1469892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181398278	chr9:1469902-1469903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149533085	chr9:1469910-1469911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144108717	chr9:1469920-1469921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370894236	chr9:1469942-1469943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544045474	chr9:1469961-1469962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564393748	chr9:1469970-1469971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577868495	chr9:1469977-1469978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368504353	chr9:1470001-1470002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17745803	chr9:1470043-1470044	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs16929834	chr9:1470060-1470061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs528932885	chr9:1470067-1470068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186541307	chr9:1470116-1470117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191814760	chr9:1470129-1470130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371458993	chr9:1470234-1470235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531931759	chr9:1470302-1470303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73640464	chr9:1470346-1470347	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs574438993	chr9:1470356-1470357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571866126	chr9:1470363-1470364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533817695	chr9:1470367-1470368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534249761	chr9:1470372-1470373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547736896	chr9:1470439-1470440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34455968	chr9:1470441-1470442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10961618	chr9:1470463-1470464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs368155513	chr9:1470621-1470622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556234028	chr9:1470637-1470638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs118058350	chr9:1470692-1470693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10114765	chr9:1470712-1470713	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557670267	chr9:1470728-1470729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73640465	chr9:1470734-1470735	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs77942613	chr9:1470737-1470738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554064043	chr9:1470742-1470743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557810700	chr9:1470756-1470757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376659465	chr9:1470774-1470775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10114135	chr9:1470797-1470798	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572276100	chr9:1470810-1470811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577751939	chr9:1470818-1470819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71327387	chr9:1470819-1470820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542685991	chr9:1470837-1470838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116059052	chr9:1470839-1470840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16929839	chr9:1470842-1470843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs375602924	chr9:1470893-1470894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545558700	chr9:1470922-1470923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139193168	chr9:1470926-1470927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1465600-1490800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1469000-1472000	Enhancers	GM12878-XiMat	blood
3	chr9:1479000-1479400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:1479000-1479400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:1489200-1490000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:1489400-1490000	Enhancers	GM12878-XiMat	blood
7	chr9:1489400-1491000	Enhancers	HSMMtube	muscle
8	chr9:1490000-1490400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:1490000-1491000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr9:1490000-1491200	Flanking Active TSS	GM12878-XiMat	blood
11	chr9:1490200-1490800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:1490200-1491000	Enhancers	Fetal Muscle Leg	muscle
13	chr9:1490400-1490600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:1490400-1490800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:1490600-1491200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:1490800-1491000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:1490800-1491000	Enhancers	Adipose Nuclei	Adipose
18	chr9:1490800-1492000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:1491000-1491200	Enhancers	Pancreas	Pancrea
20	chr9:1491000-1491200	Enhancers	Psoas Muscle	Psoas
21	chr9:1491000-1492200	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:1491000-1504000	Weak transcription	Adipose Nuclei	Adipose
23	chr9:1491200-1491400	Enhancers	GM12878-XiMat	blood
24	chr9:1491200-1492200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:1491200-1492400	Weak transcription	Psoas Muscle	Psoas
26	chr9:1492000-1493000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:1492200-1492800	Enhancers	Fetal Muscle Leg	muscle
28	chr9:1492400-1492600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:1492400-1492600	Enhancers	Psoas Muscle	Psoas
30	chr9:1495800-1496000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:1496200-1496400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:1496800-1497000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:1497000-1497200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:1504000-1504800	Strong transcription	Adipose Nuclei	Adipose
35	chr9:1504800-1513800	Weak transcription	Adipose Nuclei	Adipose
36	chr9:1511000-1511200	Enhancers	NHEK	skin
37	chr9:1512600-1513000	Enhancers	Fetal Muscle Leg	muscle
38	chr9:1512800-1514200	Enhancers	NHEK	skin
39	chr9:1513000-1513400	Weak transcription	Fetal Muscle Leg	muscle
40	chr9:1513000-1513800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:1513200-1514000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:1513400-1514800	Enhancers	Fetal Muscle Leg	muscle
43	chr9:1513800-1514600	Enhancers	Adipose Nuclei	Adipose
44	chr9:1514000-1514800	Enhancers	Psoas Muscle	Psoas
45	chr9:1514400-1515000	Enhancers	Fetal Stomach	stomach
46	chr9:1514400-1515800	Enhancers	GM12878-XiMat	blood
47	chr9:1514600-1522600	Weak transcription	Adipose Nuclei	Adipose
48	chr9:1514800-1521600	Weak transcription	Fetal Muscle Leg	muscle
49	chr9:1515000-1515600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr9:1515600-1516000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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