Variant report

Variant	esv3483147
Chromosome Location	chr9:94563359-94566128
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94554175..94556375-chr9:94562019..94564292,2	MCF-7	breast:
2	chr9:94562652..94565421-chr9:94572696..94575201,2	K562	blood:
3	chr9:94560147..94563596-chr9:94565851..94569196,3	MCF-7	breast:
4	chr9:94560147..94563596-chr9:94565851..94569196,3	MCF-7	breast:
5	chr9:94559930..94562957-chr9:94564256..94567376,4	K562	blood:
6	chr9:94561614..94563695-chr9:94575590..94578350,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571318143	chr9:94563391-94563392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570603992	chr9:94563418-94563419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372773448	chr9:94563439-94563440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148568255	chr9:94563445-94563446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7872492	chr9:94563477-94563478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs9657698	chr9:94563510-94563511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs115463595	chr9:94563524-94563525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557383793	chr9:94563569-94563570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575696681	chr9:94563570-94563571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529262172	chr9:94563573-94563574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112312268	chr9:94563603-94563604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558105873	chr9:94563607-94563608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573401896	chr9:94563609-94563610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540401100	chr9:94563676-94563677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142963665	chr9:94563739-94563740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189940831	chr9:94563747-94563748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541461836	chr9:94563754-94563755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563290033	chr9:94563760-94563761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530547400	chr9:94563791-94563792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35040969	chr9:94563801-94563802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9299398	chr9:94563880-94563881	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs371249767	chr9:94563889-94563890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528315388	chr9:94563892-94563893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374956208	chr9:94563893-94563894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200303431	chr9:94563925-94563926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568406983	chr9:94563937-94563938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183937771	chr9:94563943-94563944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151108549	chr9:94563970-94563971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4352906	chr9:94563977-94563978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369693093	chr9:94564045-94564046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs367642665	chr9:94564070-94564071	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs562423619	chr9:94564121-94564122	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs188420756	chr9:94564125-94564126	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs531440511	chr9:94564157-94564158	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558255660	chr9:94564197-94564198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs113607707	chr9:94564198-94564199	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73513266	chr9:94564208-94564209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555528955	chr9:94564287-94564288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114758473	chr9:94564319-94564320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201906573	chr9:94564334-94564335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367585421	chr9:94564348-94564349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200932035	chr9:94564350-94564351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544481512	chr9:94564361-94564362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60111555	chr9:94564368-94564369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566694287	chr9:94564370-94564371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571372563	chr9:94564457-94564458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs59394284	chr9:94564504-94564505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs61712520	chr9:94564524-94564525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575210037	chr9:94564533-94564534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545453426	chr9:94564549-94564550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94558400-94566400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:94558600-94565200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:94560800-94568000	Enhancers	Rectal Smooth Muscle	rectum
4	chr9:94561000-94563600	Enhancers	Fetal Stomach	stomach
5	chr9:94561000-94567600	Enhancers	Ovary	ovary
6	chr9:94561000-94567800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr9:94561200-94563600	Enhancers	Fetal Heart	heart
8	chr9:94561400-94564600	Weak transcription	NHDF-Ad	bronchial
9	chr9:94561400-94567400	Enhancers	Fetal Lung	lung
10	chr9:94561600-94564600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:94561600-94564600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:94561600-94566600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:94561800-94564600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:94561800-94566000	Weak transcription	Colonic Mucosa	Colon
15	chr9:94561800-94566600	Weak transcription	Spleen	Spleen
16	chr9:94562000-94563400	Enhancers	Right Atrium	heart
17	chr9:94562000-94563400	Enhancers	K562	blood
18	chr9:94562000-94565000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:94562000-94565400	Weak transcription	Fetal Intestine Small	intestine
20	chr9:94562000-94566600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:94562000-94567400	Weak transcription	Esophagus	oesophagus
22	chr9:94562000-94575400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr9:94562000-94579400	Weak transcription	Gastric	stomach
24	chr9:94562200-94564000	Enhancers	Stomach Smooth Muscle	stomach
25	chr9:94562200-94564400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:94562200-94564600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr9:94562200-94564800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:94562200-94564800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr9:94562200-94564800	Enhancers	Colon Smooth Muscle	Colon
30	chr9:94562200-94565000	Weak transcription	Fetal Intestine Large	intestine
31	chr9:94562200-94567400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:94562800-94563400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr9:94563200-94564600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:94563400-94565400	Weak transcription	K562	blood
35	chr9:94563400-94566400	Weak transcription	Right Atrium	heart
36	chr9:94563600-94564000	Weak transcription	Fetal Heart	heart
37	chr9:94563600-94564600	Weak transcription	Fetal Stomach	stomach
38	chr9:94564000-94564200	Enhancers	Fetal Heart	heart
39	chr9:94564000-94564200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr9:94564000-94566000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr9:94564200-94564800	Enhancers	Stomach Smooth Muscle	stomach
42	chr9:94564200-94565200	Weak transcription	Fetal Heart	heart
43	chr9:94564400-94564600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:94564600-94565200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:94564600-94565200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:94564600-94565200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:94564600-94565400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:94564600-94566600	Enhancers	Placenta Amnion	Placenta Amnion
49	chr9:94564600-94566600	Enhancers	NHLF	lung
50	chr9:94564600-94567000	Enhancers	NHDF-Ad	bronchial

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