Variant report

Variant	esv3462874
Chromosome Location	chr11:77162623-77162964
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	chr11:77161236..77163004-chr11:77181635..77184038,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537199144	chr11:77162629-77162630	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149904004	chr11:77162642-77162643	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79221123	chr11:77162651-77162652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529125254	chr11:77162652-77162653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75246567	chr11:77162662-77162663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181926095	chr11:77162671-77162672	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559782562	chr11:77162699-77162700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185435240	chr11:77162708-77162709	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535924582	chr11:77162731-77162732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563108015	chr11:77162755-77162756	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552681533	chr11:77162767-77162768	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3019234	chr11:77162790-77162791	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544622816	chr11:77162800-77162801	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562741529	chr11:77162801-77162802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558533389	chr11:77162833-77162834	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575498747	chr11:77162834-77162835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544227557	chr11:77162902-77162903	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561129351	chr11:77162908-77162909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574581914	chr11:77162909-77162910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7128300	chr11:77162933-77162934	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559899800	chr11:77162939-77162940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372417400	chr11:77162942-77162943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377171014	chr11:77162943-77162944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562129969	chr11:77162949-77162950	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528454512	chr11:77162956-77162957	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77142200-77164800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:77149200-77165400	Weak transcription	Ovary	ovary
3	chr11:77152800-77166400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:77153600-77168600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:77155400-77181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:77157000-77168400	Weak transcription	Small Intestine	intestine
7	chr11:77158000-77162800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:77158000-77162800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:77158200-77168600	Weak transcription	Stomach Mucosa	stomach
10	chr11:77158400-77169800	Weak transcription	Fetal Intestine Large	intestine
11	chr11:77158600-77164000	Weak transcription	Fetal Intestine Small	intestine
12	chr11:77159800-77168400	Weak transcription	Fetal Brain Female	brain
13	chr11:77160200-77169400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:77160600-77164800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:77160600-77165800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:77160600-77178000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:77160800-77167000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:77161000-77170200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:77161200-77163400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:77161200-77167400	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:77161200-77179200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:77161400-77163000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:77161400-77163000	Enhancers	Placenta	Placenta
24	chr11:77162000-77163600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr11:77162000-77165400	Weak transcription	Primary T cells from cord blood	blood
26	chr11:77162000-77165800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:77162200-77163800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:77162400-77164000	Enhancers	GM12878-XiMat	blood
29	chr11:77162400-77165000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:77162400-77166800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:77162400-77167000	Weak transcription	Primary B cells from cord blood	blood
32	chr11:77162400-77167200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:77162400-77167400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:77162400-77168000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr11:77162600-77163000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:77162600-77163200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:77162600-77163200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:77162600-77163200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:77162600-77165000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:77162600-77165600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:77162600-77165600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:77162600-77165800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:77162600-77166200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:77162600-77166400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr11:77162800-77163200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:77162800-77163400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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