Variant report

Variant	esv3463753
Chromosome Location	chr11:86302304-86308102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86299094..86301752-chr11:86305764..86307312,2	K562	blood:
2	chr11:86302794..86305608-chr11:86317191..86320162,2	K562	blood:
3	chr11:86299123..86300759-chr11:86301620..86304083,2	K562	blood:

Extended variants
information (count: 226 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:226 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548338690	chr11:86302310-86302311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556949742	chr11:86302327-86302328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535947239	chr11:86302353-86302354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556045289	chr11:86302380-86302381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569449676	chr11:86302389-86302390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538562135	chr11:86302404-86302405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7944874	chr11:86302406-86302407	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs114475461	chr11:86302467-86302468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553246250	chr11:86302483-86302484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117899482	chr11:86302489-86302490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552659016	chr11:86302501-86302502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75344409	chr11:86302513-86302514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149902658	chr11:86302525-86302526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561582585	chr11:86302566-86302567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530585945	chr11:86302567-86302568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117548898	chr11:86302621-86302622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368589597	chr11:86302631-86302632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564181599	chr11:86302649-86302650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533374423	chr11:86302669-86302670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573058835	chr11:86302746-86302747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7945260	chr11:86302767-86302768	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566871261	chr11:86302771-86302772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181246349	chr11:86302834-86302835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76449355	chr11:86302862-86302863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10792859	chr11:86302866-86302867	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs538024332	chr11:86302903-86302904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184470110	chr11:86302911-86302912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571806015	chr11:86302927-86302928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534497281	chr11:86302935-86302936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545148153	chr11:86302971-86302972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552597145	chr11:86302985-86302986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113582272	chr11:86303002-86303003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs118170077	chr11:86303034-86303035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555017670	chr11:86303058-86303059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182056327	chr11:86303068-86303069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4405344	chr11:86303090-86303091	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs78952578	chr11:86303092-86303093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4319536	chr11:86303136-86303137	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs4382934	chr11:86303202-86303203	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560503939	chr11:86303247-86303248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529266919	chr11:86303249-86303250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549519153	chr11:86303266-86303267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562920867	chr11:86303273-86303274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531941740	chr11:86303274-86303275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113364230	chr11:86303281-86303282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149064764	chr11:86303284-86303285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528122318	chr11:86303295-86303296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571809257	chr11:86303301-86303302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534252121	chr11:86303322-86303323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4382935	chr11:86303326-86303327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:72)

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

Chromatin state (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86289800-86303200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:86289800-86303400	Weak transcription	Stomach Mucosa	stomach
3	chr11:86292000-86303800	Weak transcription	Ovary	ovary
4	chr11:86292200-86303200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:86292800-86303800	Weak transcription	Gastric	stomach
6	chr11:86293400-86303800	Weak transcription	Aorta	Aorta
7	chr11:86294200-86303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:86294400-86303400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:86295600-86303400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:86297400-86308000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:86298000-86307000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:86298200-86304600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr11:86298200-86307400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:86298400-86303000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:86298600-86302400	Weak transcription	HMEC	breast
16	chr11:86298600-86303400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:86298800-86304400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:86299200-86304600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:86299400-86304800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:86299600-86302800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:86300000-86303400	Weak transcription	Brain Anterior Caudate	brain
22	chr11:86300000-86303800	Weak transcription	Spleen	Spleen
23	chr11:86300000-86304000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:86300200-86302800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:86300200-86302800	Weak transcription	Fetal Lung	lung
26	chr11:86300200-86303000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:86300200-86303000	Weak transcription	NHDF-Ad	bronchial
28	chr11:86300200-86303200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:86300200-86303200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:86300200-86303800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:86300200-86303800	Weak transcription	Small Intestine	intestine
32	chr11:86300200-86305400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:86300200-86308200	Weak transcription	Fetal Brain Male	brain
34	chr11:86300200-86318800	Weak transcription	Esophagus	oesophagus
35	chr11:86300400-86302400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:86300400-86302800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:86300400-86303200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:86300400-86303200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:86300400-86303200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:86300400-86303600	Weak transcription	Brain Germinal Matrix	brain
41	chr11:86300400-86303800	Weak transcription	Adipose Nuclei	Adipose
42	chr11:86300600-86302400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:86300600-86303400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:86300600-86303400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:86300600-86304200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr11:86300800-86303200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:86300800-86303200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:86300800-86304400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:86300800-86308800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr11:86301000-86303200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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