Variant report

Variant	esv3432643
Chromosome Location	chr9:98176941-98177231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:98171854..98174072-chr9:98176315..98178311,2	MCF-7	breast:
2	chr9:98174491..98183187-chr9:98187141..98190074,10	K562	blood:
3	chr9:98175981..98178590-chr9:98187199..98190110,4	MCF-7	breast:
4	chr9:98176993..98179487-chr9:98191596..98193512,2	MCF-7	breast:
5	chr9:98173705..98177734-chr9:98187506..98190870,3	MCF-7	breast:
6	chr9:98173730..98177988-chr9:98187520..98191004,5	K562	blood:
7	chr1:198851818..198852649-chr9:98176023..98176960,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237857	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539724860	chr9:98176942-98176943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551435471	chr9:98176953-98176954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566323403	chr9:98176965-98176966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114126295	chr9:98177010-98177011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553018905	chr9:98177036-98177037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568227606	chr9:98177045-98177046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535416400	chr9:98177050-98177051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185185592	chr9:98177083-98177084	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536276045	chr9:98177107-98177108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555226056	chr9:98177119-98177120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575594610	chr9:98177127-98177128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79616548	chr9:98177148-98177149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138306077	chr9:98177169-98177170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558200147	chr9:98177170-98177171	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs357561	chr9:98177173-98177174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs190774459	chr9:98177176-98177177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370796592	chr9:98177218-98177219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98160400-98188400	Weak transcription	Pancreas	Pancrea
2	chr9:98169800-98183600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr9:98169800-98183800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr9:98172800-98183600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:98173000-98177600	Weak transcription	NHLF	lung
6	chr9:98173000-98181200	Weak transcription	NHEK	skin
7	chr9:98173000-98183600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:98173200-98183400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:98173200-98184000	Weak transcription	Fetal Intestine Large	intestine
10	chr9:98173400-98184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:98173600-98188200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr9:98173800-98184000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:98174000-98183800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:98174200-98183400	Weak transcription	Fetal Intestine Small	intestine
15	chr9:98174200-98183800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:98174600-98182800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:98174800-98177800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:98175200-98183800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:98175200-98184200	Weak transcription	K562	blood
20	chr9:98175800-98177000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:98176000-98177600	Enhancers	A549	lung
22	chr9:98176000-98178800	Weak transcription	Ovary	ovary
23	chr9:98176400-98184800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:98176600-98185200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:98177000-98178200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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