Variant report

Variant	nsv972426
Chromosome Location	chr9:98134160-98142321
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	chr9:98134922..98136440-chr9:98143391..98144942,2	MCF-7	breast:
2	chr9:98133497..98136499-chr9:98137956..98139902,3	MCF-7	breast:
3	chr9:98141559..98142493-chr9:98980276..98981067,4	MCF-7	breast:
4	chr9:98137065..98138734-chr9:98139017..98141673,2	MCF-7	breast:
5	chr9:98139755..98142120-chr9:98143949..98145821,2	MCF-7	breast:
6	chr9:98141562..98142141-chr9:98261055..98261715,2	MCF-7	breast:
7	chr9:98137065..98138734-chr9:98139017..98141673,2	MCF-7	breast:
8	chr9:98136427..98138754-chr9:98187606..98189762,2	MCF-7	breast:
9	chr9:98134626..98137202-chr9:98143503..98145569,2	MCF-7	breast:
10	chr9:98141744..98142409-chr9:98210461..98211518,3	MCF-7	breast:
11	chr9:98133497..98136499-chr9:98137956..98139902,3	MCF-7	breast:
12	chr9:98140920..98143126-chr9:98145300..98148121,2	K562	blood:
13	chr9:98142213..98143971-chr9:98267727..98270649,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185920	chromatin interactions
ENSG00000237857	chromatin interactions
ENSG00000271155	chromatin interactions

Extended variants
information (count: 311 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71498958	chr9:98134243-98134244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376046305	chr9:98134252-98134253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528150744	chr9:98134271-98134272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34152993	chr9:98134277-98134278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551978301	chr9:98134307-98134308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545951407	chr9:98134365-98134366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138503517	chr9:98134377-98134378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143066191	chr9:98134380-98134381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150682964	chr9:98134420-98134421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550601207	chr9:98134427-98134428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569166638	chr9:98134466-98134467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554659543	chr9:98134480-98134481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139702410	chr9:98134488-98134489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188779862	chr9:98134529-98134530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149344257	chr9:98134578-98134579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144749669	chr9:98134652-98134653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373860893	chr9:98134694-98134695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376414042	chr9:98134696-98134697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553199498	chr9:98134708-98134709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139965298	chr9:98134740-98134741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543543540	chr9:98134743-98134744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562213660	chr9:98134762-98134763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535477527	chr9:98134763-98134764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78197865	chr9:98134765-98134766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144461720	chr9:98134769-98134770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546113034	chr9:98134925-98134926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557900706	chr9:98134960-98134961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573115027	chr9:98134973-98134974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540279053	chr9:98134974-98134975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73538043	chr9:98134977-98134978	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113729191	chr9:98134978-98134979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139622185	chr9:98135006-98135007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543851481	chr9:98135046-98135047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562496183	chr9:98135075-98135076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7018721	chr9:98135079-98135080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs367797113	chr9:98135088-98135089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528935132	chr9:98135126-98135127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577296443	chr9:98135139-98135140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192114528	chr9:98135162-98135163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541304450	chr9:98135164-98135165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527496064	chr9:98135169-98135170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549206671	chr9:98135170-98135171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568451357	chr9:98135197-98135198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535975777	chr9:98135207-98135208	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs77416747	chr9:98135247-98135248	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs568930956	chr9:98135252-98135253	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs371298871	chr9:98135281-98135282	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs62558311	chr9:98135285-98135286	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs566344493	chr9:98135291-98135292	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs559142205	chr9:98135300-98135301	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98128000-98139200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:98131400-98134800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:98132800-98134800	Weak transcription	Pancreas	Pancrea
4	chr9:98132800-98135400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:98133200-98134800	Weak transcription	HSMMtube	muscle
6	chr9:98134600-98136400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:98134800-98135000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:98134800-98135400	Enhancers	Hela-S3	cervix
9	chr9:98134800-98135600	Enhancers	Pancreas	Pancrea
10	chr9:98134800-98135800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:98134800-98135800	Enhancers	Fetal Muscle Trunk	muscle
12	chr9:98134800-98135800	Enhancers	NHEK	skin
13	chr9:98134800-98136200	Enhancers	HSMMtube	muscle
14	chr9:98135000-98135800	Enhancers	HMEC	breast
15	chr9:98135000-98136000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:98135000-98136800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr9:98135200-98135600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:98135200-98135800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:98135200-98136000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:98135200-98136200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr9:98135400-98135800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:98135400-98135800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:98135400-98135800	Enhancers	Fetal Muscle Leg	muscle
24	chr9:98135400-98135800	Enhancers	Fetal Stomach	stomach
25	chr9:98135400-98135800	Enhancers	Dnd41	blood
26	chr9:98135400-98135800	Flanking Active TSS	Hela-S3	cervix
27	chr9:98135400-98136000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:98135400-98136200	Enhancers	A549	lung
29	chr9:98135800-98136800	Enhancers	Hela-S3	cervix
30	chr9:98136400-98143600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:98139200-98139400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:98139400-98147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:98142000-98142400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:98142000-98142400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr9:98142200-98142400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr9:98142200-98142400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr9:98142200-98142600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:98142200-98143200	Enhancers	A549	lung

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