Variant report

Variant	esv3438184
Chromosome Location	chr11:86017754-86020152
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	chr11:86012616..86015242-chr11:86018093..86019661,2	K562	blood:

Variant related genes	Relation type
ENSG00000149196	chromatin interactions

Extended variants
information (count: 120 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568099670	chr11:86017763-86017764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537245183	chr11:86017767-86017768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143412647	chr11:86017769-86017770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs291248	chr11:86017797-86017798	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs546133105	chr11:86017822-86017823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553373201	chr11:86017836-86017837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573249180	chr11:86017872-86017873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183086638	chr11:86017885-86017886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375167987	chr11:86017894-86017895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562202588	chr11:86017902-86017903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530954938	chr11:86017903-86017904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568004434	chr11:86017979-86017980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544744213	chr11:86017992-86017993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564350393	chr11:86017993-86017994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373653427	chr11:86018003-86018004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs291249	chr11:86018028-86018029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs200914438	chr11:86018046-86018047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201569114	chr11:86018052-86018053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202103674	chr11:86018053-86018054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190008871	chr11:86018054-86018055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200266784	chr11:86018056-86018057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199595991	chr11:86018101-86018102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201551882	chr11:86018126-86018127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10693563	chr11:86018127-86018128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200662693	chr11:86018130-86018131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs67163188	chr11:86018133-86018134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs167089	chr11:86018147-86018148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs169729	chr11:86018167-86018168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188008906	chr11:86018201-86018202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs5029017	chr11:86018215-86018216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12798843	chr11:86018223-86018224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs5029016	chr11:86018235-86018236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12575523	chr11:86018257-86018258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7126841	chr11:86018314-86018315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs5029014	chr11:86018325-86018326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375172442	chr11:86018357-86018358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs4441035	chr11:86018359-86018360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12576546	chr11:86018374-86018375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs5029013	chr11:86018382-86018383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375241756	chr11:86018408-86018409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs36133756	chr11:86018425-86018426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs199528459	chr11:86018426-86018427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs4559705	chr11:86018439-86018440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369228678	chr11:86018456-86018457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566852291	chr11:86018470-86018471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371481002	chr11:86018590-86018591	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs199754967	chr11:86018595-86018596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200698294	chr11:86018638-86018639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4381389	chr11:86018653-86018654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11234606	chr11:86018687-86018688	Weak transcription	Chromatin interactive region	1 gene(s)	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:118 , 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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