Variant report

Variant	esv3520332
Chromosome Location	chr11:77402253-77404458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:77403789-77403866	MCF-7	breast:	n/a	n/a
2	POLR2A	chr11:77404282-77404430	K562	blood:	n/a	n/a
3	POU2F2	chr11:77402933-77403161	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77400497..77402486-chr11:77406053..77408481,2	MCF-7	breast:
2	chr11:77404214..77406621-chr11:77900198..77902122,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206816	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112774230	chr11:77402298-77402299	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140314477	chr11:77402319-77402320	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145340112	chr11:77402341-77402342	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369374710	chr11:77402368-77402369	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547662771	chr11:77402412-77402413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1544274	chr11:77402419-77402420	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs539245583	chr11:77402467-77402468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138061437	chr11:77402483-77402484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575627121	chr11:77402484-77402485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73506774	chr11:77402493-77402494	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554658513	chr11:77402518-77402519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182503254	chr11:77402582-77402583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545463087	chr11:77402618-77402619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554007438	chr11:77402634-77402635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541326792	chr11:77402640-77402641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143195721	chr11:77402643-77402644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571851761	chr11:77402656-77402657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1544273	chr11:77402689-77402690	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs560951706	chr11:77402709-77402710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148263523	chr11:77402716-77402717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559351166	chr11:77402722-77402723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1544272	chr11:77402734-77402735	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs73506778	chr11:77402789-77402790	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544117473	chr11:77402794-77402795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548236542	chr11:77402828-77402829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187138849	chr11:77402865-77402866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527272323	chr11:77402920-77402921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527701943	chr11:77402927-77402928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376881459	chr11:77402977-77402978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547453754	chr11:77403012-77403013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570742793	chr11:77403014-77403015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539747165	chr11:77403038-77403039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562316171	chr11:77403073-77403074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533010323	chr11:77403081-77403082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569796313	chr11:77403109-77403110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190395459	chr11:77403132-77403133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370218482	chr11:77403182-77403183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554596811	chr11:77403196-77403197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551444209	chr11:77403206-77403207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115599792	chr11:77403250-77403251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71469577	chr11:77403278-77403279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71046904	chr11:77403307-77403308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181710473	chr11:77403313-77403314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553785784	chr11:77403320-77403321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577448669	chr11:77403324-77403325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546450910	chr11:77403327-77403328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556596726	chr11:77403390-77403391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576542311	chr11:77403430-77403431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542485455	chr11:77403531-77403532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561754122	chr11:77403540-77403541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

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:173 , 50 per page) page: 1 2 3 4

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	chr11:77375400-77404800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:77375400-77411000	Strong transcription	Dnd41	blood
15	chr11:77375600-77405000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:77375600-77411200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:77375600-77413200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr11:77375600-77413400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:77375800-77404800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:77376800-77415600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr11:77377600-77410400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:77381400-77403000	Weak transcription	Aorta	Aorta
23	chr11:77381800-77411000	Weak transcription	Stomach Mucosa	stomach
24	chr11:77382000-77409000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:77384200-77411200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:77385400-77404800	Strong transcription	Osteobl	bone
27	chr11:77386400-77414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:77387200-77416600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:77387400-77405800	Weak transcription	K562	blood
30	chr11:77388000-77408000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:77388000-77408000	Weak transcription	Colonic Mucosa	Colon
32	chr11:77388000-77413400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:77388000-77413600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:77388600-77415800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:77388800-77409800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:77389200-77404800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:77389200-77406400	Weak transcription	HMEC	breast
38	chr11:77389400-77413400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:77389800-77435400	Weak transcription	Psoas Muscle	Psoas
40	chr11:77390000-77408800	Weak transcription	NHLF	lung
41	chr11:77390600-77409800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:77391400-77403200	Strong transcription	Adipose Nuclei	Adipose
43	chr11:77391400-77404400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr11:77391600-77442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:77392400-77410200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:77393000-77409800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:77394000-77405000	Strong transcription	Fetal Intestine Small	intestine
48	chr11:77394200-77425200	Weak transcription	Lung	lung
49	chr11:77394600-77416600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:77394600-77435600	Weak transcription	Gastric	stomach

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