Variant report

Variant	esv3463731
Chromosome Location	chr11:86304164-86306586
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	chr11:86299094..86301752-chr11:86305764..86307312,2	K562	blood:
2	chr11:86302794..86305608-chr11:86317191..86320162,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530321841	chr11:86304203-86304204	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs114477424	chr11:86304247-86304248	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568816165	chr11:86304249-86304250	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537580978	chr11:86304298-86304299	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557796942	chr11:86304300-86304301	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571371605	chr11:86304330-86304331	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs145186832	chr11:86304339-86304340	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs373913604	chr11:86304382-86304383	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs12281596	chr11:86304402-86304403	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574024406	chr11:86304474-86304475	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs77264217	chr11:86304480-86304481	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191293438	chr11:86304481-86304482	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576369516	chr11:86304493-86304494	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs545194455	chr11:86304534-86304535	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs183258202	chr11:86304537-86304538	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs138807096	chr11:86304572-86304573	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs114529299	chr11:86304575-86304576	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs561145229	chr11:86304579-86304580	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141431788	chr11:86304589-86304590	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs550437300	chr11:86304694-86304695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115473929	chr11:86304696-86304697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550353627	chr11:86304706-86304707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531306905	chr11:86304731-86304732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7116278	chr11:86304732-86304733	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150845877	chr11:86304755-86304756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187730511	chr11:86304792-86304793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538194276	chr11:86304795-86304796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554054907	chr11:86304882-86304883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189548778	chr11:86304950-86304951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183238060	chr11:86304969-86304970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200477311	chr11:86304985-86304986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545336448	chr11:86305040-86305041	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs7105382	chr11:86305041-86305042	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7119775	chr11:86305100-86305101	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187624133	chr11:86305101-86305102	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs545346791	chr11:86305115-86305116	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs558672633	chr11:86305129-86305130	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs75885303	chr11:86305131-86305132	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs138196493	chr11:86305229-86305230	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs149593371	chr11:86305230-86305231	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs192171358	chr11:86305246-86305247	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs185315816	chr11:86305247-86305248	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs74732203	chr11:86305263-86305264	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs76291451	chr11:86305265-86305266	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78553840	chr11:86305266-86305267	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs75471730	chr11:86305268-86305269	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs375906580	chr11:86305340-86305341	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs544391209	chr11:86305485-86305486	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs566060589	chr11:86305580-86305581	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563957073	chr11:86305598-86305599	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:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86297400-86308000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:86298000-86307000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:86298200-86304600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr11:86298200-86307400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:86298800-86304400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:86299200-86304600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr11:86299400-86304800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:86300200-86305400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:86300200-86308200	Weak transcription	Fetal Brain Male	brain
10	chr11:86300200-86318800	Weak transcription	Esophagus	oesophagus
11	chr11:86300600-86304200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:86300800-86304400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:86300800-86308800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:86301600-86304800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:86301600-86307000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:86302200-86304600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:86302200-86309000	Enhancers	HUVEC	blood vessel
18	chr11:86302400-86304800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:86302400-86306600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:86302400-86306800	Enhancers	HMEC	breast
21	chr11:86302600-86304200	Enhancers	Psoas Muscle	Psoas
22	chr11:86302600-86307000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:86302800-86304400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:86302800-86304400	Enhancers	Fetal Lung	lung
25	chr11:86302800-86304600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:86302800-86304800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr11:86303000-86304200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:86303000-86304400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:86303000-86304400	Enhancers	HSMMtube	muscle
30	chr11:86303000-86304600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr11:86303000-86304600	Enhancers	NHLF	lung
32	chr11:86303000-86304800	Enhancers	HepG2	liver
33	chr11:86303000-86306000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:86303000-86306800	Enhancers	NHDF-Ad	bronchial
35	chr11:86303000-86307000	Enhancers	NHEK	skin
36	chr11:86303200-86304200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:86303200-86304200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:86303200-86304400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr11:86303200-86304400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr11:86303200-86304400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:86303200-86304400	Enhancers	HSMM	muscle
42	chr11:86303200-86304600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:86303200-86304600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:86303200-86304600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:86303200-86304600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:86303200-86304600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr11:86303200-86304600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:86303200-86304600	Enhancers	Colon Smooth Muscle	Colon
49	chr11:86303200-86304600	Enhancers	Rectal Smooth Muscle	rectum
50	chr11:86303200-86306600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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