Variant report

Variant	esv3403710
Chromosome Location	chr11:77408154-77409252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77406566..77409009-chr11:77420746..77423042,2	MCF-7	breast:
2	chr11:77405932..77408889-chr11:77412418..77414616,3	K562	blood:
3	chr11:77400497..77402486-chr11:77406053..77408481,2	MCF-7	breast:
4	chr11:77397705..77402199-chr11:77404680..77408663,4	K562	blood:

Variant related genes	Relation type
ENSG00000048649	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181359700	chr11:77408190-77408191	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531732822	chr11:77408216-77408217	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7479766	chr11:77408217-77408218	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538245562	chr11:77408243-77408244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185636353	chr11:77408268-77408269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs67313689	chr11:77408279-77408280	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs538110496	chr11:77408310-77408311	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191221602	chr11:77408333-77408334	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571893523	chr11:77408335-77408336	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539322621	chr11:77408417-77408418	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs66472445	chr11:77408426-77408427	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs566279528	chr11:77408453-77408454	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536320153	chr11:77408470-77408471	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543261730	chr11:77408481-77408482	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140026616	chr11:77408487-77408488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573330149	chr11:77408504-77408505	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs56102920	chr11:77408532-77408533	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369281577	chr11:77408541-77408542	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371824689	chr11:77408543-77408544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372602344	chr11:77408548-77408549	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs66509027	chr11:77408587-77408588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545049467	chr11:77408645-77408646	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565252611	chr11:77408647-77408648	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs575574084	chr11:77408651-77408652	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544459163	chr11:77408665-77408666	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12293187	chr11:77408700-77408701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187436730	chr11:77408720-77408721	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546837626	chr11:77408725-77408726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200047535	chr11:77408732-77408733	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs72947636	chr11:77408739-77408740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs191856777	chr11:77408740-77408741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183760222	chr11:77408791-77408792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568806049	chr11:77408845-77408846	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537843100	chr11:77408856-77408857	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs67291795	chr11:77408877-77408878	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs201773903	chr11:77408894-77408895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533970922	chr11:77408904-77408905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553958963	chr11:77409032-77409033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7111625	chr11:77409118-77409119	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539097804	chr11:77409120-77409121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558788665	chr11:77409156-77409157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187476471	chr11:77409202-77409203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4945201	chr11:77409246-77409247	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:82)

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
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
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
Congenital diaphragmatic hernia	21525063	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77360400-77419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:77370000-77410400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:77373800-77413600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:77374000-77416200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:77374200-77417400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:77374800-77414000	Strong transcription	Fetal Thymus	thymus
7	chr11:77375000-77411200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:77375000-77411200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:77375000-77413000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr11:77375200-77411000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:77375200-77411000	Strong transcription	Liver	Liver
12	chr11:77375200-77413600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:77375400-77411000	Strong transcription	Dnd41	blood
14	chr11:77375600-77411200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:77375600-77413200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr11:77375600-77413400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:77376800-77415600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr11:77377600-77410400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:77381800-77411000	Weak transcription	Stomach Mucosa	stomach
20	chr11:77382000-77409000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:77384200-77411200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:77386400-77414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:77387200-77416600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:77388000-77413400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:77388000-77413600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:77388600-77415800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:77388800-77409800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:77389400-77413400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:77389800-77435400	Weak transcription	Psoas Muscle	Psoas
30	chr11:77390000-77408800	Weak transcription	NHLF	lung
31	chr11:77390600-77409800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:77391600-77442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:77392400-77410200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:77393000-77409800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:77394200-77425200	Weak transcription	Lung	lung
36	chr11:77394600-77416600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:77394600-77435600	Weak transcription	Gastric	stomach
38	chr11:77394600-77441800	Weak transcription	Spleen	Spleen
39	chr11:77394600-77445600	Weak transcription	Esophagus	oesophagus
40	chr11:77394600-77458800	Weak transcription	Small Intestine	intestine
41	chr11:77394800-77409000	Weak transcription	Brain Substantia Nigra	brain
42	chr11:77394800-77418200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:77394800-77462600	Weak transcription	Fetal Heart	heart
44	chr11:77395200-77409000	Weak transcription	NHEK	skin
45	chr11:77397000-77411000	Strong transcription	Primary B cells from cord blood	blood
46	chr11:77397800-77409800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:77398200-77409000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr11:77398400-77409800	Strong transcription	Fetal Muscle Leg	muscle
49	chr11:77398800-77422400	Weak transcription	Pancreas	Pancrea
50	chr11:77399800-77409600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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