Variant report

Variant	nsv982961
Chromosome Location	chr11:120649840-120656069
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	chr11:120655370..120658218-chr11:120660299..120663054,2	K562	blood:

Extended variants
information (count: 265 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141968524	chr11:120649840-120649841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372732738	chr11:120649842-120649843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80070821	chr11:120649910-120649911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569122231	chr11:120649931-120649932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536787506	chr11:120649932-120649933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548370045	chr11:120649943-120649944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72995858	chr11:120649949-120649950	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534519556	chr11:120649957-120649958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552704276	chr11:120649959-120649960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2846097	chr11:120649962-120649963	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368699529	chr11:120649980-120649981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559614271	chr11:120649987-120649988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577548693	chr11:120650001-120650002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538512109	chr11:120650018-120650019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556954485	chr11:120650025-120650026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575111779	chr11:120650031-120650032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2846098	chr11:120650053-120650054	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563191081	chr11:120650055-120650056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17124321	chr11:120650086-120650087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572853316	chr11:120650113-120650114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138232502	chr11:120650160-120650161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565447600	chr11:120650196-120650197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532868876	chr11:120650218-120650219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544904842	chr11:120650257-120650258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149596154	chr11:120650260-120650261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144278115	chr11:120650267-120650268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35343601	chr11:120650356-120650357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138459639	chr11:120650357-120650358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548523449	chr11:120650388-120650389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140962818	chr11:120650447-120650448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561181611	chr11:120650465-120650466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116727415	chr11:120650530-120650531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189414877	chr11:120650540-120650541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571779344	chr11:120650549-120650550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs56138027	chr11:120650554-120650555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112139962	chr11:120650589-120650590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556974170	chr11:120650596-120650597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2846099	chr11:120650611-120650612	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs17124324	chr11:120650633-120650634	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554501259	chr11:120650703-120650704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528109171	chr11:120650786-120650787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192771745	chr11:120650788-120650789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569479859	chr11:120650888-120650889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540293230	chr11:120650889-120650890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2846100	chr11:120650919-120650920	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs577491769	chr11:120650942-120650943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555026263	chr11:120650979-120650980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147538349	chr11:120651023-120651024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2846101	chr11:120651102-120651103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7945234	chr11:120651128-120651129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:107)

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
Glioblastoma multiforme	21080181	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
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
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	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
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	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
Myelofibrosis	22110671	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
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120646600-120650800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:120647800-120652200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:120647800-120653400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:120648400-120651200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:120648400-120651400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:120648800-120650000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr11:120648800-120650000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:120648800-120650200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:120648800-120650600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:120648800-120650600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:120648800-120650800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr11:120648800-120650800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:120649000-120650600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:120649000-120650800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr11:120649400-120650400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:120649400-120652000	Enhancers	HUVEC	blood vessel
17	chr11:120649600-120650400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:120649600-120650800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr11:120649600-120652400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:120649600-120653400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:120649800-120653400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:120649800-120653400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:120650000-120654000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:120650200-120653600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:120650400-120651200	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:120650400-120652200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:120650600-120653400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:120650600-120653800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:120650800-120652400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:120650800-120652400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:120650800-120652600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:120650800-120652600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:120650800-120652800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:120651200-120653400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:120651400-120653200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:120652200-120654200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:120652400-120654000	Enhancers	H1 Cell Line	embryonic stem cell
38	chr11:120652400-120654200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr11:120652400-120654400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr11:120652600-120652800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:120652600-120652800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr11:120652600-120652800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:120652800-120653000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr11:120652800-120653200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:120652800-120653200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:120653200-120654000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr11:120653200-120654400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:120653200-120654600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:120653400-120654200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr11:120653400-120654200	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links