Variant report

Variant	esv2429813
Chromosome Location	chr11:87018698-87020019
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	chr11:87019923..87022315-chr11:87031348..87034093,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115703868	chr11:87018699-87018700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143350666	chr11:87018713-87018714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528041392	chr11:87018714-87018715	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572042859	chr11:87018730-87018731	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17149916	chr11:87018740-87018741	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185386463	chr11:87018753-87018754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529899787	chr11:87018754-87018755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543296760	chr11:87018763-87018764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568093642	chr11:87018800-87018801	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148372718	chr11:87018803-87018804	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117001244	chr11:87018814-87018815	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112964307	chr11:87018881-87018882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554785089	chr11:87018887-87018888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565753785	chr11:87018889-87018890	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368876984	chr11:87018930-87018931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528430402	chr11:87018939-87018940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548867001	chr11:87018945-87018946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557880518	chr11:87018973-87018974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375692422	chr11:87019014-87019015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371045649	chr11:87019016-87019017	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569866910	chr11:87019101-87019102	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193038375	chr11:87019153-87019154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184203879	chr11:87019164-87019165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558650890	chr11:87019194-87019195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537356258	chr11:87019199-87019200	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572078037	chr11:87019254-87019255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188490500	chr11:87019296-87019297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34035302	chr11:87019325-87019326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554544367	chr11:87019340-87019341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141591241	chr11:87019346-87019347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577186928	chr11:87019372-87019373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373078830	chr11:87019393-87019394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563361269	chr11:87019414-87019415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532144056	chr11:87019447-87019448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545905791	chr11:87019466-87019467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117417874	chr11:87019483-87019484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76997905	chr11:87019497-87019498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17149921	chr11:87019498-87019499	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181064521	chr11:87019502-87019503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531137255	chr11:87019578-87019579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551227370	chr11:87019607-87019608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147457195	chr11:87019608-87019609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111731853	chr11:87019613-87019614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199637365	chr11:87019617-87019618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565824262	chr11:87019618-87019619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7117070	chr11:87019645-87019646	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs554301849	chr11:87019711-87019712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574349406	chr11:87019757-87019758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543370187	chr11:87019852-87019853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530685485	chr11:87019903-87019904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86992600-87020600	Weak transcription	Liver	Liver
2	chr11:86995200-87018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:87004000-87032600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:87006400-87030600	Weak transcription	Dnd41	blood
5	chr11:87010200-87037200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:87010600-87036800	Weak transcription	Psoas Muscle	Psoas
7	chr11:87011800-87024000	Weak transcription	Fetal Brain Female	brain
8	chr11:87011800-87036800	Weak transcription	Primary B cells from cord blood	blood
9	chr11:87012000-87024600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:87012000-87032200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:87012000-87034200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:87012000-87040400	Weak transcription	Fetal Intestine Small	intestine
13	chr11:87012200-87020400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:87012400-87030400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:87012400-87032200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:87012600-87019200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:87012600-87019400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:87012600-87030200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:87012600-87031000	Weak transcription	Primary T cells from cord blood	blood
20	chr11:87012600-87032200	Weak transcription	Brain Anterior Caudate	brain
21	chr11:87012600-87032200	Weak transcription	Fetal Intestine Large	intestine
22	chr11:87012600-87036000	Weak transcription	Fetal Muscle Leg	muscle
23	chr11:87012600-87036400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:87012800-87044200	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:87013200-87024000	Weak transcription	Esophagus	oesophagus
26	chr11:87013200-87025600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:87013200-87032400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:87013200-87034400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:87013400-87021200	Weak transcription	HSMMtube	muscle
30	chr11:87013400-87032200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:87013400-87032200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr11:87013400-87032200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:87013800-87032800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:87013800-87033000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:87014000-87032200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:87014200-87020400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:87014200-87034000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:87014400-87047400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:87015000-87021600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:87015600-87039800	Weak transcription	Fetal Stomach	stomach
41	chr11:87015800-87020600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:87015800-87028800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:87015800-87040800	Weak transcription	Left Ventricle	heart
44	chr11:87016000-87022000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:87016000-87030000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:87016000-87030600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:87016400-87034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:87017400-87033000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:87017600-87032800	Weak transcription	K562	blood
50	chr11:87017800-87021200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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