Variant report

Variant	nsv968731
Chromosome Location	chr9:96326630-96327839
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96212024..96217170-chr9:96326121..96330116,7	MCF-7	breast:
2	chr9:96290421..96292489-chr9:96327392..96330270,2	MCF-7	breast:
3	chr9:96324507..96327332-chr9:96327489..96329838,2	K562	blood:
4	chr9:96239972..96242150-chr9:96326116..96327649,2	MCF-7	breast:
5	chr9:96213362..96216144-chr9:96327494..96330556,6	K562	blood:
6	chr9:96322191..96324124-chr9:96324483..96327194,2	K562	blood:
7	chr9:96319216..96322786-chr9:96325553..96328069,3	MCF-7	breast:
8	chr9:96210381..96218248-chr9:96327402..96333234,10	MCF-7	breast:
9	chr9:96213362..96215557-chr9:96327494..96329016,2	K562	blood:
10	chr9:96324653..96326761-chr9:96337595..96340198,2	MCF-7	breast:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FAM120A	hsa-miR-155-5p	chr9:96327216-96327240
2	FAM120A	hsa-miR-124-3p	chr9:96326689-96326708

Variant related genes	Relation type
ENSG00000197724	chromatin interactions
ENSG00000263875	chromatin interactions
ENSG00000048828	chromatin interactions
ENSG00000188938	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369844257	chr9:96326634-96326635	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs373248649	chr9:96326644-96326645	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs150698606	chr9:96326645-96326646	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs370300082	chr9:96326660-96326661	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs140164449	chr9:96326661-96326662	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs373654143	chr9:96326668-96326669	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs377566974	chr9:96326669-96326670	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs371349890	chr9:96326682-96326683	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs36049654	chr9:96326703-96326704	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region miRNA target site	5 gene(s)	Overlapped CNVs	n/a
10	rs368992682	chr9:96326725-96326726	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs371095680	chr9:96326726-96326727	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs375682793	chr9:96326773-96326774	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs144655329	chr9:96326819-96326820	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs143176459	chr9:96326824-96326825	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs15084	chr9:96326827-96326828	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs186146666	chr9:96326865-96326866	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs574350479	chr9:96327014-96327015	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs3209933	chr9:96327037-96327038	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs11541746	chr9:96327101-96327102	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs41274410	chr9:96327104-96327105	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs11541745	chr9:96327116-96327117	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs4330749	chr9:96327118-96327119	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149395635	chr9:96327135-96327136	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs530537078	chr9:96327158-96327159	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs143819340	chr9:96327272-96327273	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs201350584	chr9:96327358-96327359	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568843751	chr9:96327432-96327433	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs190559287	chr9:96327437-96327438	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs370743906	chr9:96327539-96327540	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs117900873	chr9:96327553-96327554	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs547360364	chr9:96327604-96327605	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs11975	chr9:96327691-96327692	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs554667746	chr9:96327693-96327694	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs377355365	chr9:96327787-96327788	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96278400-96327000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr9:96278400-96327200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr9:96278400-96328200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr9:96279000-96327400	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr9:96284600-96327200	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr9:96284600-96328200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:96284800-96327200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:96285000-96327000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:96285000-96327000	Strong transcription	Dnd41	blood
10	chr9:96285200-96327800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:96285400-96327800	Strong transcription	Liver	Liver
12	chr9:96299200-96326800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:96299400-96327800	Strong transcription	Placenta	Placenta
14	chr9:96301200-96327200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr9:96302000-96328000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:96304400-96328200	Strong transcription	Adipose Nuclei	Adipose
17	chr9:96305200-96326800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr9:96305200-96327000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:96305400-96327000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:96305400-96327200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:96305400-96327600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:96307600-96329000	Weak transcription	Right Atrium	heart
23	chr9:96311400-96327000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr9:96311400-96327000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr9:96311400-96327000	Strong transcription	Fetal Thymus	thymus
26	chr9:96311600-96326800	Strong transcription	Primary hematopoietic stem cells	blood
27	chr9:96311800-96327000	Strong transcription	Fetal Intestine Large	intestine
28	chr9:96312200-96326800	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr9:96312200-96327800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:96312400-96328000	Strong transcription	Hela-S3	cervix
31	chr9:96312600-96327000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr9:96312600-96329000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:96312800-96327000	Strong transcription	Osteobl	bone
34	chr9:96312800-96328200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr9:96313000-96327200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr9:96314000-96326800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr9:96314000-96327000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr9:96315000-96326800	Strong transcription	Primary T cells from cord blood	blood
39	chr9:96316400-96326800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:96316600-96326800	Strong transcription	Left Ventricle	heart
41	chr9:96316600-96327200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr9:96316800-96327000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:96317000-96326800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr9:96317000-96326800	Strong transcription	Right Ventricle	heart
45	chr9:96317000-96327800	Strong transcription	HSMM	muscle
46	chr9:96317200-96326800	Strong transcription	Fetal Muscle Leg	muscle
47	chr9:96317400-96326800	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr9:96318000-96327000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr9:96318000-96327000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:96318000-96327800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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