Variant report

Variant	esv11399
Chromosome Location	chr11:86303268-86306521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 124 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562920867	chr11:86303273-86303274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531941740	chr11:86303274-86303275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113364230	chr11:86303281-86303282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149064764	chr11:86303284-86303285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528122318	chr11:86303295-86303296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571809257	chr11:86303301-86303302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534252121	chr11:86303322-86303323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4382935	chr11:86303326-86303327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs186304931	chr11:86303390-86303391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4405345	chr11:86303394-86303395	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190650001	chr11:86303395-86303396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575286353	chr11:86303400-86303401	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs376677412	chr11:86303419-86303420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs551783359	chr11:86303451-86303452	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs369498624	chr11:86303513-86303514	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181492480	chr11:86303551-86303552	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537230660	chr11:86303609-86303610	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs557698725	chr11:86303670-86303671	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143745356	chr11:86303729-86303730	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs186899120	chr11:86303744-86303745	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs116906610	chr11:86303752-86303753	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs574083518	chr11:86303830-86303831	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs543002619	chr11:86303848-86303849	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs148598867	chr11:86303911-86303912	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532114963	chr11:86303945-86303946	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs562889705	chr11:86303964-86303965	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531757988	chr11:86303995-86303996	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs545461440	chr11:86304005-86304006	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs565353621	chr11:86304038-86304039	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs10400291	chr11:86304054-86304055	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs138420910	chr11:86304094-86304095	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs567580353	chr11:86304152-86304153	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs530321841	chr11:86304203-86304204	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs114477424	chr11:86304247-86304248	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs568816165	chr11:86304249-86304250	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs537580978	chr11:86304298-86304299	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557796942	chr11:86304300-86304301	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571371605	chr11:86304330-86304331	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs145186832	chr11:86304339-86304340	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs373913604	chr11:86304382-86304383	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs12281596	chr11:86304402-86304403	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574024406	chr11:86304474-86304475	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs77264217	chr11:86304480-86304481	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs191293438	chr11:86304481-86304482	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs576369516	chr11:86304493-86304494	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs545194455	chr11:86304534-86304535	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs183258202	chr11:86304537-86304538	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs138807096	chr11:86304572-86304573	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs114529299	chr11:86304575-86304576	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs561145229	chr11:86304579-86304580	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

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:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86289800-86303400	Weak transcription	Stomach Mucosa	stomach
2	chr11:86292000-86303800	Weak transcription	Ovary	ovary
3	chr11:86292800-86303800	Weak transcription	Gastric	stomach
4	chr11:86293400-86303800	Weak transcription	Aorta	Aorta
5	chr11:86294200-86303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:86294400-86303400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:86295600-86303400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:86297400-86308000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:86298000-86307000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:86298200-86304600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:86298200-86307400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:86298600-86303400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:86298800-86304400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:86299200-86304600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr11:86299400-86304800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:86300000-86303400	Weak transcription	Brain Anterior Caudate	brain
17	chr11:86300000-86303800	Weak transcription	Spleen	Spleen
18	chr11:86300000-86304000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:86300200-86303800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:86300200-86303800	Weak transcription	Small Intestine	intestine
21	chr11:86300200-86305400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:86300200-86308200	Weak transcription	Fetal Brain Male	brain
23	chr11:86300200-86318800	Weak transcription	Esophagus	oesophagus
24	chr11:86300400-86303600	Weak transcription	Brain Germinal Matrix	brain
25	chr11:86300400-86303800	Weak transcription	Adipose Nuclei	Adipose
26	chr11:86300600-86303400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:86300600-86303400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:86300600-86304200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr11:86300800-86304400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:86300800-86308800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:86301000-86303800	Weak transcription	Right Atrium	heart
32	chr11:86301200-86303400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:86301200-86303400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:86301600-86303600	Weak transcription	Right Ventricle	heart
35	chr11:86301600-86303600	Weak transcription	K562	blood
36	chr11:86301600-86304800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:86301600-86307000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:86301800-86304000	Enhancers	Fetal Intestine Small	intestine
39	chr11:86302000-86303400	Enhancers	A549	lung
40	chr11:86302000-86303800	Weak transcription	Left Ventricle	heart
41	chr11:86302000-86303800	Weak transcription	Lung	lung
42	chr11:86302000-86303800	Weak transcription	Pancreas	Pancrea
43	chr11:86302200-86304000	Enhancers	Fetal Intestine Large	intestine
44	chr11:86302200-86304600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr11:86302200-86309000	Enhancers	HUVEC	blood vessel
46	chr11:86302400-86304800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:86302400-86306600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr11:86302400-86306800	Enhancers	HMEC	breast
49	chr11:86302600-86303800	Weak transcription	Fetal Heart	heart
50	chr11:86302600-86304000	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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