Variant report

Variant	nsv528824
Chromosome Location	chr11:119650105-119661809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:119655323..119657353-chr11:119658809..119661282,2	K562	blood:
2	chr11:119651148..119653281-chr11:119653649..119656583,2	MCF-7	breast:
3	chr11:119641454..119644378-chr11:119651426..119653026,2	MCF-7	breast:
4	chr11:119651148..119653281-chr11:119653649..119656583,2	MCF-7	breast:
5	chr11:119645625..119647628-chr11:119648979..119651393,2	K562	blood:
6	chr11:119660449..119662688-chr11:119663958..119666461,2	K562	blood:
7	chr11:119655323..119657353-chr11:119658809..119661282,2	K562	blood:

No data

Extended variants
information (count: 563 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7103360	chr11:119650105-119650106	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370767746	chr11:119650183-119650184	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs563916643	chr11:119650202-119650203	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs538894559	chr11:119650215-119650216	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs549376882	chr11:119650229-119650230	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs369156553	chr11:119650250-119650251	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs112160523	chr11:119650314-119650315	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs374504119	chr11:119650315-119650316	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs554686724	chr11:119650337-119650338	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs374298991	chr11:119650343-119650344	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs540236896	chr11:119650353-119650354	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs558501424	chr11:119650358-119650359	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs577483730	chr11:119650374-119650375	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs151310729	chr11:119650391-119650392	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs568006961	chr11:119650429-119650430	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs4589311	chr11:119650434-119650435	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs560971408	chr11:119650466-119650467	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs150490159	chr11:119650509-119650510	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs546638239	chr11:119650523-119650524	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs183210817	chr11:119650565-119650566	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs145391292	chr11:119650577-119650578	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs34724955	chr11:119650614-119650615	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs568280496	chr11:119650636-119650637	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs74653462	chr11:119650678-119650679	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs553910822	chr11:119650684-119650685	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs536457323	chr11:119650685-119650686	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs370549855	chr11:119650696-119650697	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs547934706	chr11:119650698-119650699	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs141973942	chr11:119650699-119650700	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs374716263	chr11:119650713-119650714	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs558610352	chr11:119650777-119650778	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs577195005	chr11:119650790-119650791	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs4331115	chr11:119650848-119650849	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs367650932	chr11:119650875-119650876	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs556856455	chr11:119650956-119650957	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs574990380	chr11:119650990-119650991	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs186820750	chr11:119651050-119651051	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs531169709	chr11:119651052-119651053	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs572988281	chr11:119651080-119651081	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs11217499	chr11:119651089-119651090	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs564828223	chr11:119651090-119651091	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs59751162	chr11:119651109-119651110	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs115144715	chr11:119651122-119651123	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs558235676	chr11:119651170-119651171	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs189996808	chr11:119651192-119651193	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs550269642	chr11:119651198-119651199	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs562805494	chr11:119651231-119651232	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs138724693	chr11:119651255-119651256	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs182278094	chr11:119651277-119651278	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs543827113	chr11:119651286-119651287	Weak transcription Enhancers Bivalent Enhancer	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:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119641400-119652600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:119645200-119652800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:119647000-119654400	Enhancers	Fetal Heart	heart
4	chr11:119647600-119650200	Weak transcription	Ovary	ovary
5	chr11:119648600-119653200	Enhancers	Right Ventricle	heart
6	chr11:119648800-119650400	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr11:119649000-119650800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr11:119649600-119652600	Weak transcription	GM12878-XiMat	blood
9	chr11:119649600-119653000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:119649600-119653400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:119650000-119651000	Weak transcription	Left Ventricle	heart
12	chr11:119650000-119651400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:119650000-119651400	Bivalent Enhancer	Fetal Stomach	stomach
14	chr11:119650000-119652600	Enhancers	Right Atrium	heart
15	chr11:119650200-119650400	Bivalent Enhancer	Placenta	Placenta
16	chr11:119650200-119651400	Enhancers	Ovary	ovary
17	chr11:119650400-119651000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr11:119650400-119651400	Bivalent Enhancer	HSMMtube	muscle
19	chr11:119650400-119653200	Enhancers	Fetal Muscle Leg	muscle
20	chr11:119650600-119650800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
21	chr11:119650800-119651200	Enhancers	Fetal Lung	lung
22	chr11:119650800-119652200	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:119651000-119652000	Enhancers	Left Ventricle	heart
24	chr11:119651400-119652600	Weak transcription	Ovary	ovary
25	chr11:119652000-119652800	Weak transcription	Left Ventricle	heart
26	chr11:119652200-119654200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr11:119652400-119653600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:119652400-119655000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:119652600-119653200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr11:119652600-119653400	Weak transcription	Right Atrium	heart
31	chr11:119652600-119653800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:119652600-119653800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:119652600-119653800	Bivalent Enhancer	Fetal Stomach	stomach
34	chr11:119652600-119655000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:119652600-119655400	ZNF genes & repeats	GM12878-XiMat	blood
36	chr11:119652800-119653000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:119652800-119653000	Enhancers	Ovary	ovary
38	chr11:119652800-119653200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:119652800-119653200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:119652800-119653800	Bivalent Enhancer	Placenta	Placenta
41	chr11:119652800-119653800	Enhancers	Left Ventricle	heart
42	chr11:119652800-119654200	Enhancers	NH-A	brain
43	chr11:119653000-119653200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:119653000-119653400	Enhancers	Osteobl	bone
45	chr11:119653000-119653600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr11:119653000-119653600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr11:119653000-119653600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr11:119653000-119653800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr11:119653000-119653800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr11:119653000-119654000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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