Variant report

Variant	nsv1034140
Chromosome Location	chr9:11196016-11245402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:11216192..11218001-chr9:11219669..11221559,2	K562	blood:
2	chr9:11216192..11218001-chr9:11219669..11221559,2	K562	blood:
3	chr1:210502189..210502757-chr9:11220602..11221102,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000054392	chromatin interactions

Extended variants
information (count: 539 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs901986	chr9:11196016-11196017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10756203	chr9:11196081-11196082	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs543911676	chr9:11196114-11196115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7043445	chr9:11196141-11196142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181310231	chr9:11196147-11196148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537935057	chr9:11196159-11196160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548268386	chr9:11196174-11196175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11999647	chr9:11196189-11196190	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145248202	chr9:11196236-11196237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554374764	chr9:11196258-11196259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570012823	chr9:11196273-11196274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577452913	chr9:11196334-11196335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539784886	chr9:11196351-11196352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542554303	chr9:11196382-11196383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12156565	chr9:11196389-11196390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541830379	chr9:11196413-11196414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555543803	chr9:11196418-11196419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572524220	chr9:11196431-11196432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10809383	chr9:11196439-11196440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560326872	chr9:11196463-11196464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186266468	chr9:11196494-11196495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12342410	chr9:11196536-11196537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs117991396	chr9:11196556-11196557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562772460	chr9:11196570-11196571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371654770	chr9:11196582-11196583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564461619	chr9:11196596-11196597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192072984	chr9:11196623-11196624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145032652	chr9:11196624-11196625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527418837	chr9:11196635-11196636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531714662	chr9:11196649-11196650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549933936	chr9:11196656-11196657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372558945	chr9:11196659-11196660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539649194	chr9:11196684-11196685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112497673	chr9:11196688-11196689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556400309	chr9:11196692-11196693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374829539	chr9:11196710-11196711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2130121	chr9:11196733-11196734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs149079192	chr9:11196736-11196737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538221416	chr9:11196745-11196746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572432797	chr9:11196747-11196748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371495552	chr9:11196748-11196749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541551695	chr9:11196756-11196757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6474639	chr9:11196759-11196760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs370094420	chr9:11196777-11196778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151053460	chr9:11196798-11196799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562746716	chr9:11196804-11196805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs531667415	chr9:11196827-11196828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs541448374	chr9:11196841-11196842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs181692868	chr9:11196845-11196846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs6474640	chr9:11196847-11196848	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11195200-11196200	Enhancers	Brain Germinal Matrix	brain
2	chr9:11196000-11196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:11196800-11197200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:11197200-11203000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:11199000-11199800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr9:11199200-11199800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:11199200-11199800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:11199200-11200400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:11199400-11199800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr9:11199600-11200400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:11207600-11207800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr9:11233800-11235200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:11234600-11235800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links