Variant report

Variant	esv1837528
Chromosome Location	chr11:119659918-119666352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119660449..119662688-chr11:119663958..119666461,2	K562	blood:
2	chr11:119660449..119662688-chr11:119663958..119666461,2	K562	blood:
3	chr11:119663785..119666002-chr11:119674482..119676269,2	MCF-7	breast:
4	chr11:119663136..119665675-chr11:119667575..119669290,2	K562	blood:
5	chr11:119655323..119657353-chr11:119658809..119661282,2	K562	blood:

Extended variants
information (count: 240 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7102225	chr11:119659918-119659919	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555248470	chr11:119659962-119659963	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573430780	chr11:119659971-119659972	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75002036	chr11:119659981-119659982	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117380282	chr11:119659991-119659992	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577495633	chr11:119659996-119659997	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369727101	chr11:119660003-119660004	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563366029	chr11:119660021-119660022	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576823475	chr11:119660023-119660024	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112560124	chr11:119660031-119660032	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540062534	chr11:119660032-119660033	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561255686	chr11:119660059-119660060	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528338210	chr11:119660060-119660061	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565028358	chr11:119660117-119660118	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532516186	chr11:119660137-119660138	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188390643	chr11:119660140-119660141	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148060415	chr11:119660143-119660144	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550671306	chr11:119660158-119660159	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191671257	chr11:119660245-119660246	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544285982	chr11:119660265-119660266	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536270814	chr11:119660273-119660274	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369012345	chr11:119660364-119660365	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140906713	chr11:119660407-119660408	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566845059	chr11:119660438-119660439	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538594334	chr11:119660439-119660440	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534254222	chr11:119660473-119660474	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559203138	chr11:119660475-119660476	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150163983	chr11:119660476-119660477	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34492753	chr11:119660492-119660493	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138170846	chr11:119660493-119660494	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34922927	chr11:119660544-119660545	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542974828	chr11:119660545-119660546	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550522530	chr11:119660546-119660547	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143814092	chr11:119660610-119660611	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556031470	chr11:119660614-119660615	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530048581	chr11:119660622-119660623	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34573370	chr11:119660737-119660738	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560755539	chr11:119660740-119660741	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528065470	chr11:119660777-119660778	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116770774	chr11:119660872-119660873	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564827788	chr11:119660898-119660899	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532178961	chr11:119660910-119660911	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370999994	chr11:119660930-119660931	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550333610	chr11:119660973-119660974	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373232612	chr11:119661000-119661001	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558302399	chr11:119661008-119661009	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530169029	chr11:119661022-119661023	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548834293	chr11:119661134-119661135	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548643797	chr11:119661136-119661137	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146601249	chr11:119661156-119661157	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ductal carcinoma	22052326	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119657200-119663600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:119658000-119661400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:119658000-119662400	Weak transcription	Fetal Brain Female	brain
4	chr11:119658400-119660400	Weak transcription	Fetal Brain Male	brain
5	chr11:119659200-119662400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr11:119659200-119662800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:119659800-119660400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
8	chr11:119659800-119660600	Enhancers	Fetal Heart	heart
9	chr11:119660000-119664200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:119660400-119660600	Enhancers	Fetal Brain Male	brain
11	chr11:119660400-119660800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:119660600-119660800	Enhancers	Esophagus	oesophagus
13	chr11:119660600-119661000	Weak transcription	Fetal Brain Male	brain
14	chr11:119660600-119661600	Weak transcription	Fetal Heart	heart
15	chr11:119660600-119663000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:119660600-119663200	Enhancers	Brain Germinal Matrix	brain
17	chr11:119660800-119665400	Weak transcription	Esophagus	oesophagus
18	chr11:119661000-119662800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr11:119661000-119662800	Enhancers	Fetal Brain Male	brain
20	chr11:119661000-119663200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr11:119661200-119661400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:119661200-119662000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr11:119661200-119662200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr11:119661200-119662200	Bivalent Enhancer	Fetal Stomach	stomach
25	chr11:119661200-119663000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
26	chr11:119661200-119663000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr11:119661200-119663000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:119661200-119663000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr11:119661200-119663000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:119661200-119663200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr11:119661200-119663200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:119661400-119661600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr11:119661400-119662200	Enhancers	Lung	lung
34	chr11:119661400-119662600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:119661400-119662800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr11:119661400-119663000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:119661400-119663000	Enhancers	Brain Angular Gyrus	brain
38	chr11:119661600-119661800	Enhancers	Fetal Heart	heart
39	chr11:119661600-119662200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:119661600-119662400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr11:119661600-119663000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:119661600-119665600	Enhancers	NH-A	brain
43	chr11:119661600-119666600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:119661800-119662200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:119661800-119662600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:119661800-119662800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
47	chr11:119662000-119662200	Enhancers	Right Ventricle	heart
48	chr11:119662000-119662200	Active TSS	Spleen	Spleen
49	chr11:119662000-119662600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:119662000-119662800	Enhancers	Fetal Lung	lung

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