Variant report

Variant	esv3331887
Chromosome Location	chr11:86017029-86020502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86011825..86015552-chr11:86015581..86017222,3	K562	blood:
2	chr11:86012616..86015242-chr11:86018093..86019661,2	K562	blood:
3	chr11:86012640..86015311-chr11:86015657..86017221,3	K562	blood:

Variant related genes	Relation type
ENSG00000149196	chromatin interactions

Extended variants
information (count: 174 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558176806	chr11:86017031-86017032	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142868599	chr11:86017073-86017074	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569862696	chr11:86017074-86017075	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567046663	chr11:86017095-86017096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574597395	chr11:86017223-86017224	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371496099	chr11:86017248-86017249	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181866288	chr11:86017271-86017272	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199509279	chr11:86017283-86017284	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552485887	chr11:86017288-86017289	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370169348	chr11:86017303-86017304	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201239774	chr11:86017321-86017322	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374929851	chr11:86017338-86017339	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144440797	chr11:86017355-86017356	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145991257	chr11:86017386-86017387	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200822371	chr11:86017388-86017389	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11539213	chr11:86017395-86017396	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202003795	chr11:86017416-86017417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115242516	chr11:86017460-86017461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559792088	chr11:86017477-86017478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146883644	chr11:86017482-86017483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140650657	chr11:86017497-86017498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374767293	chr11:86017512-86017513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540343847	chr11:86017519-86017520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199939620	chr11:86017538-86017539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371650421	chr11:86017545-86017546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200004318	chr11:86017564-86017565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542362425	chr11:86017568-86017569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201924927	chr11:86017569-86017570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531117497	chr11:86017587-86017588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11822824	chr11:86017602-86017603	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571119706	chr11:86017650-86017651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200215038	chr11:86017651-86017652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs291247	chr11:86017658-86017659	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs551716735	chr11:86017688-86017689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186842279	chr11:86017709-86017710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7123314	chr11:86017729-86017730	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554628112	chr11:86017737-86017738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568099670	chr11:86017763-86017764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537245183	chr11:86017767-86017768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143412647	chr11:86017769-86017770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs291248	chr11:86017797-86017798	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs546133105	chr11:86017822-86017823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553373201	chr11:86017836-86017837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573249180	chr11:86017872-86017873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183086638	chr11:86017885-86017886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375167987	chr11:86017894-86017895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562202588	chr11:86017902-86017903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530954938	chr11:86017903-86017904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568004434	chr11:86017979-86017980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544744213	chr11:86017992-86017993	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
Obesity	20622171	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86014000-86026000	Weak transcription	Placenta	Placenta
2	chr11:86014000-86030000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:86014000-86030000	Weak transcription	Lung	lung
4	chr11:86014200-86024600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr11:86014200-86024600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:86014200-86024800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:86014200-86028000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:86014200-86030000	Weak transcription	Left Ventricle	heart
9	chr11:86014200-86031600	Weak transcription	Ovary	ovary
10	chr11:86014200-86052000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:86014200-86055400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:86014200-86057400	Weak transcription	Aorta	Aorta
13	chr11:86014400-86024000	Weak transcription	Fetal Thymus	thymus
14	chr11:86014400-86024400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:86014400-86024600	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:86014400-86027800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:86014400-86030000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:86014400-86034400	Weak transcription	HSMM	muscle
19	chr11:86014400-86066600	Weak transcription	HSMMtube	muscle
20	chr11:86014600-86018600	Weak transcription	Stomach Mucosa	stomach
21	chr11:86014600-86024000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:86014600-86024200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:86014600-86024400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:86014600-86024400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:86014600-86024600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:86014600-86024600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:86014600-86024600	Weak transcription	HMEC	breast
28	chr11:86014600-86024800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr11:86014600-86024800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:86014600-86024800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:86014600-86024800	Weak transcription	Liver	Liver
32	chr11:86014600-86024800	Weak transcription	Psoas Muscle	Psoas
33	chr11:86014600-86024800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:86014600-86025000	Weak transcription	Primary B cells from cord blood	blood
35	chr11:86014600-86026600	Weak transcription	Fetal Brain Male	brain
36	chr11:86014600-86026600	Weak transcription	Fetal Intestine Large	intestine
37	chr11:86014600-86026800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:86014600-86029800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:86014600-86029800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:86014600-86030000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:86014600-86030000	Weak transcription	Fetal Brain Female	brain
42	chr11:86014600-86030000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:86014600-86031600	Weak transcription	Fetal Lung	lung
44	chr11:86014600-86031600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:86014600-86035200	Weak transcription	NH-A	brain
46	chr11:86014600-86045600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:86014600-86045800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:86014600-86045800	Weak transcription	Right Ventricle	heart
49	chr11:86014600-86048400	Weak transcription	Brain Germinal Matrix	brain
50	chr11:86014600-86048800	Weak transcription	Thymus	Thymus

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