Variant report

Variant	nsv415527
Chromosome Location	chr9:95960867-95961471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95961414..95965641-chr9:95984083..95987391,7	MCF-7	breast:
2	chr9:95960515..95962748-chr9:96063970..96065844,2	MCF-7	breast:
3	chr9:95961109..95963310-chr9:96212706..96215085,3	MCF-7	breast:
4	chr9:95959322..95962228-chr9:95991755..95995134,3	MCF-7	breast:
5	chr9:95961070..95962823-chr9:95969517..95972182,2	K562	blood:
6	chr9:95960782..95962974-chr9:95969485..95971200,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000048828	chromatin interactions
ENSG00000188938	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369563814	chr9:95960867-95960868	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs62571713	chr9:95960868-95960869	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs537660298	chr9:95960884-95960885	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs556390313	chr9:95960924-95960925	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs577880906	chr9:95960928-95960929	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs538609030	chr9:95961002-95961003	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527271540	chr9:95961007-95961008	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146122805	chr9:95961090-95961091	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572163711	chr9:95961131-95961132	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs35347373	chr9:95961140-95961141	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542792429	chr9:95961151-95961152	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs560973124	chr9:95961198-95961199	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576674094	chr9:95961254-95961255	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551848580	chr9:95961258-95961259	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370554995	chr9:95961266-95961267	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565549066	chr9:95961270-95961271	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532728207	chr9:95961281-95961282	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550790216	chr9:95961333-95961334	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs190977216	chr9:95961341-95961342	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs34020099	chr9:95961346-95961347	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530038780	chr9:95961392-95961393	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs78694447	chr9:95961427-95961428	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs36101213	chr9:95961428-95961429	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95950800-95967400	Enhancers	Fetal Heart	heart
2	chr9:95954600-95961600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr9:95955600-95961600	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr9:95955800-95985600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:95956600-95962600	Weak transcription	Brain Angular Gyrus	brain
6	chr9:95956800-95965000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:95957000-95963800	Weak transcription	Fetal Kidney	kidney
8	chr9:95957000-95973400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr9:95957200-95963200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr9:95957200-95963400	Weak transcription	Stomach Mucosa	stomach
11	chr9:95957400-95962200	Weak transcription	Fetal Brain Male	brain
12	chr9:95957400-95962200	Weak transcription	Fetal Brain Female	brain
13	chr9:95957400-95963200	Weak transcription	Fetal Lung	lung
14	chr9:95958000-95963400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr9:95958200-95961000	Enhancers	Right Ventricle	heart
16	chr9:95958200-95961200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr9:95958200-95963400	Weak transcription	Esophagus	oesophagus
18	chr9:95958200-95966200	Enhancers	Placenta	Placenta
19	chr9:95958200-95972800	Enhancers	Left Ventricle	heart
20	chr9:95958200-95975600	Enhancers	Pancreas	Pancrea
21	chr9:95958600-95962800	Enhancers	Stomach Smooth Muscle	stomach
22	chr9:95959000-95961600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr9:95959000-95961800	Enhancers	HepG2	liver
24	chr9:95959000-95967200	Weak transcription	Small Intestine	intestine
25	chr9:95959200-95962400	Weak transcription	Brain Anterior Caudate	brain
26	chr9:95959200-95970200	Weak transcription	Lung	lung
27	chr9:95959400-95963600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr9:95959600-95961000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr9:95959600-95961000	Enhancers	Fetal Muscle Leg	muscle
30	chr9:95959600-95962800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr9:95960000-95961400	Enhancers	Brain Cingulate Gyrus	brain
32	chr9:95960000-95961400	Enhancers	Fetal Intestine Large	intestine
33	chr9:95960000-95961600	Enhancers	A549	lung
34	chr9:95960000-95962400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:95960200-95961000	Enhancers	Fetal Thymus	thymus
36	chr9:95960200-95961600	Enhancers	Right Atrium	heart
37	chr9:95960200-95964800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:95960400-95961000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr9:95960400-95961000	Weak transcription	Gastric	stomach
40	chr9:95960400-95961400	Enhancers	Psoas Muscle	Psoas
41	chr9:95960400-95961600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr9:95960400-95971400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr9:95960600-95961000	Weak transcription	Brain Germinal Matrix	brain
44	chr9:95960600-95962800	Weak transcription	Colon Smooth Muscle	Colon
45	chr9:95960600-95975800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr9:95960800-95961000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:95960800-95961000	Weak transcription	Fetal Intestine Small	intestine
48	chr9:95960800-95961200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:95960800-95961200	Weak transcription	Colonic Mucosa	Colon
50	chr9:95960800-95961200	Weak transcription	Spleen	Spleen

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