Variant report

Variant	esv275555
Chromosome Location	chr9:93565999-93570451
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:93562623..93567761-chr9:93568030..93571323,5	K562	blood:
2	chr9:93566130..93568297-chr9:93575356..93577751,2	K562	blood:
3	chr9:93566333..93568000-chr9:93577767..93579301,2	MCF-7	breast:
4	chr9:93569248..93572925-chr9:93585588..93587867,3	K562	blood:
5	chr9:93561656..93565893-chr9:93566155..93575937,12	MCF-7	breast:
6	chr9:93564315..93567256-chr9:93578660..93580228,2	MCF-7	breast:
7	chr9:93569272..93571391-chr9:93577022..93579806,2	K562	blood:
8	chr9:93566479..93568925-chr9:93571004..93572513,2	MCF-7	breast:
9	chr9:93566139..93567654-chr9:93575721..93577420,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165025	chromatin interactions

Extended variants
information (count: 203 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1319677	chr9:93565999-93566000	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74360256	chr9:93566016-93566017	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577456887	chr9:93566063-93566064	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546456764	chr9:93566111-93566112	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548248397	chr9:93566113-93566114	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184068766	chr9:93566116-93566117	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs189040575	chr9:93566124-93566125	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547586519	chr9:93566131-93566132	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs550792894	chr9:93566135-93566136	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs143324563	chr9:93566153-93566154	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs199899565	chr9:93566161-93566162	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs577908310	chr9:93566162-93566163	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs545033978	chr9:93566178-93566179	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540437735	chr9:93566185-93566186	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115137365	chr9:93566190-93566191	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575097561	chr9:93566221-93566222	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79981965	chr9:93566244-93566245	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373350883	chr9:93566246-93566247	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs5899104	chr9:93566299-93566300	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560820214	chr9:93566312-93566313	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs12353141	chr9:93566372-93566373	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545981740	chr9:93566381-93566382	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1333635	chr9:93566406-93566407	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs113201615	chr9:93566412-93566413	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542230798	chr9:93566478-93566479	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs561900823	chr9:93566481-93566482	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs180835789	chr9:93566508-93566509	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547402892	chr9:93566519-93566520	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570755413	chr9:93566545-93566546	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560773046	chr9:93566561-93566562	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549959372	chr9:93566630-93566631	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376914469	chr9:93566670-93566671	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562826384	chr9:93566679-93566680	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs116848523	chr9:93566764-93566765	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148356043	chr9:93566767-93566768	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs4744013	chr9:93566769-93566770	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534610366	chr9:93566786-93566787	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs571606256	chr9:93566811-93566812	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs4744504	chr9:93566819-93566820	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs200877550	chr9:93566873-93566874	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577085045	chr9:93566883-93566884	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141549320	chr9:93566939-93566940	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs147538038	chr9:93566944-93566945	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111829496	chr9:93566956-93566957	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541993785	chr9:93567032-93567033	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570802065	chr9:93567033-93567034	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368137525	chr9:93567062-93567063	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377069492	chr9:93567092-93567093	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186073776	chr9:93567149-93567150	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541403144	chr9:93567173-93567174	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	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
Breast cancer	22522925	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93563200-93568000	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr9:93563800-93566600	Active TSS	K562	blood
3	chr9:93563800-93566800	Active TSS	Duodenum Mucosa	Duodenum
4	chr9:93563800-93567000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:93563800-93567200	Active TSS	GM12878-XiMat	blood
6	chr9:93563800-93567400	Active TSS	Thymus	Thymus
7	chr9:93563800-93567600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr9:93564000-93566000	Active TSS	Primary monocytes fromperipheralblood	blood
9	chr9:93564600-93566400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr9:93564600-93567000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr9:93564600-93567400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:93564600-93567400	Active TSS	Fetal Thymus	thymus
13	chr9:93564600-93567400	Weak transcription	Gastric	stomach
14	chr9:93564600-93567400	Weak transcription	Pancreas	Pancrea
15	chr9:93564600-93567400	Weak transcription	Spleen	Spleen
16	chr9:93564600-93567600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:93564600-93568600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:93564600-93572000	Weak transcription	Lung	lung
19	chr9:93564800-93566600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:93564800-93566800	Weak transcription	Right Atrium	heart
21	chr9:93564800-93567800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:93565000-93566600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:93565000-93567400	Weak transcription	Stomach Mucosa	stomach
24	chr9:93565000-93569400	Weak transcription	Primary T cells from cord blood	blood
25	chr9:93565000-93609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:93565200-93566400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:93565200-93566400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr9:93565200-93567800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr9:93565200-93568400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr9:93565400-93566000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr9:93565400-93566200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr9:93565400-93566200	Enhancers	Fetal Kidney	kidney
33	chr9:93565400-93566400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:93565400-93566600	Weak transcription	Fetal Intestine Small	intestine
35	chr9:93565400-93567400	Weak transcription	Fetal Stomach	stomach
36	chr9:93565400-93567600	Enhancers	NHEK	skin
37	chr9:93565400-93570600	Weak transcription	HMEC	breast
38	chr9:93565400-93570800	Weak transcription	Placenta	Placenta
39	chr9:93565400-93577000	Weak transcription	Colonic Mucosa	Colon
40	chr9:93565600-93566000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr9:93565600-93567000	Weak transcription	Fetal Intestine Large	intestine
42	chr9:93565600-93567800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr9:93566000-93566200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr9:93566000-93567000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr9:93566000-93567000	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr9:93566200-93566400	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr9:93566200-93566600	Flanking Active TSS	Fetal Kidney	kidney
48	chr9:93566200-93567800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr9:93566200-93567800	Enhancers	Fetal Lung	lung
50	chr9:93566400-93566600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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