Variant report

Variant	nsv518668
Chromosome Location	chr11:121593385-121604656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 240 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:240 , 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	rs1893841	chr11:121593385-121593386	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543291433	chr11:121593395-121593396	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554991974	chr11:121593443-121593444	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572772223	chr11:121593477-121593478	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539860206	chr11:121593479-121593480	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564599655	chr11:121593491-121593492	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532083210	chr11:121593493-121593494	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543948109	chr11:121593560-121593561	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145851045	chr11:121593623-121593624	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370522392	chr11:121593642-121593643	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548440685	chr11:121593658-121593659	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566675346	chr11:121593666-121593667	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186665713	chr11:121593667-121593668	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535437707	chr11:121593674-121593675	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191859395	chr11:121593702-121593703	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554081625	chr11:121593724-121593725	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374108653	chr11:121593741-121593742	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547024629	chr11:121593746-121593747	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571721374	chr11:121593766-121593767	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539127331	chr11:121593818-121593819	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs148827623	chr11:121593845-121593846	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs146926352	chr11:121593876-121593877	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs536468541	chr11:121593882-121593883	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs555211894	chr11:121593916-121593917	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs367971397	chr11:121593959-121593960	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs535640442	chr11:121594010-121594011	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs573469791	chr11:121594063-121594064	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs555670068	chr11:121594065-121594066	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs539799157	chr11:121594085-121594086	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs75410828	chr11:121594118-121594119	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs10736509	chr11:121594124-121594125	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543886252	chr11:121594151-121594152	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs138039085	chr11:121594159-121594160	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs184075680	chr11:121594162-121594163	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs187624973	chr11:121594171-121594172	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs192879548	chr11:121594256-121594257	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs77538893	chr11:121594381-121594382	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs527585520	chr11:121594414-121594415	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs73026663	chr11:121594460-121594461	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs75792460	chr11:121594476-121594477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs146042477	chr11:121594501-121594502	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs551025943	chr11:121594592-121594593	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs569271235	chr11:121594619-121594620	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs190391286	chr11:121594628-121594629	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs193213440	chr11:121594642-121594643	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs567102632	chr11:121594668-121594669	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs534210634	chr11:121594694-121594695	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs558855892	chr11:121594699-121594700	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs576538075	chr11:121594714-121594715	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs35176097	chr11:121594721-121594722	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Squamous cell cancer	20885788	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21385341	CNVD
Multiple myeloma	16461302	CNVD
Burkitt''s lymphoma	18698080	CNVD
Prostate cancer	23792589	CNVD
Effusion lymphoma	18079361	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121592600-121594000	Active TSS	Fetal Brain Female	brain
2	chr11:121592600-121594200	Active TSS	Brain Germinal Matrix	brain
3	chr11:121592800-121593400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:121592800-121593400	Enhancers	HMEC	breast
5	chr11:121592800-121593600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:121592800-121594000	Active TSS	Brain Hippocampus Middle	brain
7	chr11:121592800-121594200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:121592800-121594200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr11:121592800-121594200	Active TSS	Brain Anterior Caudate	brain
10	chr11:121592800-121594200	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr11:121592800-121594200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
12	chr11:121592800-121594400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:121592800-121594400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr11:121592800-121594400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:121592800-121594400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr11:121592800-121594400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:121592800-121594400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:121592800-121594400	Active TSS	Brain Angular Gyrus	brain
19	chr11:121592800-121594400	Active TSS	Brain Cingulate Gyrus	brain
20	chr11:121592800-121594400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:121592800-121594600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:121592800-121594600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:121592800-121594600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:121592800-121594600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr11:121592800-121594800	Active TSS	Brain Substantia Nigra	brain
26	chr11:121593000-121593400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr11:121593000-121593400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:121593000-121593400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:121593000-121593400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:121593000-121593400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr11:121593000-121593400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
32	chr11:121593000-121593400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr11:121593000-121593400	Bivalent/Poised TSS	Colonic Mucosa	Colon
34	chr11:121593000-121593400	Bivalent Enhancer	Placenta	Placenta
35	chr11:121593000-121593400	Flanking Active TSS	Pancreas	Pancrea
36	chr11:121593000-121593400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
37	chr11:121593000-121593400	Flanking Active TSS	NHDF-Ad	bronchial
38	chr11:121593000-121593400	Flanking Active TSS	NHLF	lung
39	chr11:121593000-121593600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:121593000-121593600	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr11:121593000-121593600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:121593000-121593600	Flanking Active TSS	Right Ventricle	heart
43	chr11:121593000-121593600	Flanking Active TSS	HepG2	liver
44	chr11:121593000-121593600	Active TSS	HSMM	muscle
45	chr11:121593000-121593800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:121593000-121593800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr11:121593000-121593800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:121593000-121593800	Flanking Active TSS	Fetal Thymus	thymus
49	chr11:121593000-121594000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:121593000-121594000	Active TSS	Rectal Smooth Muscle	rectum

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