Variant report

Variant	nsv975384
Chromosome Location	chr11:121067538-121074700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121073176..121075427-chr11:121076496..121078905,2	K562	blood:
2	chr11:120979543..120981996-chr11:121070890..121072492,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BLID-12	chr11:121069239-121069313	NONHSAT024738

Extended variants
information (count: 126 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181348910	chr11:121067581-121067582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376216591	chr11:121067611-121067612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549032015	chr11:121067669-121067670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185375419	chr11:121067738-121067739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142293424	chr11:121067791-121067792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77363277	chr11:121067794-121067795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565824815	chr11:121067835-121067836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539699328	chr11:121067883-121067884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551724491	chr11:121068024-121068025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17124945	chr11:121068047-121068048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs151136581	chr11:121068151-121068152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386375087	chr11:121068178-121068179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537277175	chr11:121068241-121068242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555150062	chr11:121068253-121068254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573729314	chr11:121068273-121068274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534317145	chr11:121068305-121068306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552893935	chr11:121068326-121068327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12286746	chr11:121068347-121068348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202163842	chr11:121068351-121068352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190638475	chr11:121068352-121068353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551164704	chr11:121068383-121068384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113609716	chr11:121068397-121068398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373659416	chr11:121068408-121068409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536185739	chr11:121068415-121068416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542840040	chr11:121068430-121068431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561222344	chr11:121068438-121068439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528624983	chr11:121068461-121068462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs58639855	chr11:121068475-121068476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139639071	chr11:121068561-121068562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs650714	chr11:121068615-121068616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565256728	chr11:121068664-121068665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532566397	chr11:121068675-121068676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367732888	chr11:121068719-121068720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376705888	chr11:121068722-121068723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59793621	chr11:121068739-121068740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs398045664	chr11:121068740-121068741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551685467	chr11:121068741-121068742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199600660	chr11:121068742-121068743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569996972	chr11:121068763-121068764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537242442	chr11:121068772-121068773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536305260	chr11:121068827-121068828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77611728	chr11:121068893-121068894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567360190	chr11:121068906-121068907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534666173	chr11:121068923-121068924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552812994	chr11:121068959-121068960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376399336	chr11:121069009-121069010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577181495	chr11:121069027-121069028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538277844	chr11:121069032-121069033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12288505	chr11:121069225-121069226	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs575578607	chr11:121069226-121069227	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121058800-121069000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr11:121062600-121070000	Weak transcription	Fetal Heart	heart
3	chr11:121064600-121069000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:121065800-121070200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:121066000-121067600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:121066000-121068800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:121066000-121068800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:121066000-121068800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:121066000-121069200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:121066400-121069200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:121066400-121069200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:121067600-121067800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:121067800-121068600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:121068400-121069200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:121068600-121069400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:121068600-121069400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:121068800-121069600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:121068800-121070800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr11:121068800-121070800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr11:121068800-121070800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr11:121069000-121069400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:121069000-121070800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:121069200-121069600	Bivalent Enhancer	Dnd41	blood
24	chr11:121069200-121070000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr11:121069200-121070800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:121069200-121070800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:121069200-121071000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr11:121069400-121070400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr11:121069600-121070000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr11:121069800-121070600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:121070000-121070600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:121070000-121070600	Enhancers	Fetal Heart	heart
33	chr11:121070000-121070800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr11:121070200-121070400	Enhancers	H9 Cell Line	embryonic stem cell
35	chr11:121070200-121070600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:121070200-121071000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:121070400-121070600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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