Variant report

Variant	nsv518415
Chromosome Location	chr11:36644076-36661723
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:36524585..36526745-chr11:36660156..36661890,2	K562	blood:
2	chr11:36585345..36586221-chr11:36643988..36644896,2	K562	blood:
3	chr11:36649743..36651991-chr11:36654545..36656846,2	MCF-7	breast:
4	chr11:36649743..36651991-chr11:36654545..36656846,2	MCF-7	breast:
5	chr11:36585864..36586647-chr11:36643987..36644963,5	MCF-7	breast:
6	chr11:36660144..36660808-chr11:36704212..36704764,2	MCF-7	breast:
7	chr11:36642647..36644362-chr11:36665197..36666895,2	K562	blood:
8	chr11:36588036..36588727-chr11:36644218..36644936,3	MCF-7	breast:

No data

Extended variants
information (count: 687 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1391542	chr11:36644076-36644077	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533194115	chr11:36644098-36644099	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs114947946	chr11:36644099-36644100	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs568744720	chr11:36644118-36644119	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs537213305	chr11:36644132-36644133	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556163579	chr11:36644134-36644135	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs115930029	chr11:36644140-36644141	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs114455208	chr11:36644146-36644147	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs571128244	chr11:36644257-36644258	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs372063424	chr11:36644258-36644259	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs115390740	chr11:36644262-36644263	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs16929190	chr11:36644269-36644270	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35329885	chr11:36644298-36644299	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541428754	chr11:36644299-36644300	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114428825	chr11:36644350-36644351	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs575513121	chr11:36644376-36644377	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs138248359	chr11:36644394-36644395	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149650796	chr11:36644419-36644420	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564287309	chr11:36644451-36644452	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575233899	chr11:36644452-36644453	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548971302	chr11:36644454-36644455	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368085988	chr11:36644473-36644474	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567190965	chr11:36644517-36644518	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546313318	chr11:36644554-36644555	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559887134	chr11:36644565-36644566	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs16929194	chr11:36644581-36644582	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs548617698	chr11:36644650-36644651	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562214651	chr11:36644660-36644661	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531212935	chr11:36644678-36644679	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73437955	chr11:36644693-36644694	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554484427	chr11:36644719-36644720	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11033722	chr11:36644722-36644723	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541097462	chr11:36644735-36644736	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181043560	chr11:36644767-36644768	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546243011	chr11:36644825-36644826	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs566241271	chr11:36644854-36644855	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs138281452	chr11:36644867-36644868	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs375124013	chr11:36644868-36644869	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs369789647	chr11:36644878-36644879	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs535051141	chr11:36644884-36644885	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73437958	chr11:36644903-36644904	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556729279	chr11:36644907-36644908	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs562325340	chr11:36644908-36644909	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs557802603	chr11:36644910-36644911	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs575160780	chr11:36644913-36644914	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs373604606	chr11:36644914-36644915	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs397714703	chr11:36644915-36644916	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs538132461	chr11:36645024-36645025	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs143391081	chr11:36645040-36645041	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs577863690	chr11:36645086-36645087	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36616600-36657000	Weak transcription	Left Ventricle	heart
2	chr11:36630000-36678800	Weak transcription	Brain Angular Gyrus	brain
3	chr11:36630600-36649000	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:36630600-36661000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:36630600-36682000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:36633600-36656000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:36640400-36648000	Weak transcription	HSMMtube	muscle
8	chr11:36640600-36645000	Active TSS	Thymus	Thymus
9	chr11:36640600-36649800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:36640800-36669400	Weak transcription	Aorta	Aorta
11	chr11:36641400-36650200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:36641400-36650600	Weak transcription	Right Ventricle	heart
13	chr11:36641400-36652600	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:36641400-36669400	Weak transcription	Adipose Nuclei	Adipose
15	chr11:36641400-36669600	Weak transcription	Ovary	ovary
16	chr11:36641400-36681000	Weak transcription	Primary T cells from cord blood	blood
17	chr11:36641600-36646000	Weak transcription	Fetal Heart	heart
18	chr11:36641600-36653000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:36641600-36660400	Weak transcription	Fetal Stomach	stomach
20	chr11:36642000-36650200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:36642000-36655000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:36642000-36655200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:36642000-36681000	Weak transcription	Fetal Kidney	kidney
24	chr11:36642200-36649600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:36642200-36650000	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:36642200-36669600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:36642600-36644200	Flanking Active TSS	Dnd41	blood
28	chr11:36643200-36647800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:36644000-36644200	Flanking Active TSS	Fetal Thymus	thymus
30	chr11:36644200-36644400	Enhancers	Fetal Thymus	thymus
31	chr11:36644200-36645000	Enhancers	Dnd41	blood
32	chr11:36644400-36644800	Weak transcription	Fetal Thymus	thymus
33	chr11:36644800-36646400	Enhancers	Fetal Thymus	thymus
34	chr11:36645000-36645200	Flanking Active TSS	Thymus	Thymus
35	chr11:36645000-36645400	Flanking Active TSS	Dnd41	blood
36	chr11:36645200-36646400	Enhancers	Thymus	Thymus
37	chr11:36645400-36645800	Enhancers	Dnd41	blood
38	chr11:36645800-36646000	Flanking Active TSS	Dnd41	blood
39	chr11:36646000-36646600	Enhancers	Fetal Heart	heart
40	chr11:36646000-36652600	Enhancers	Dnd41	blood
41	chr11:36646200-36647400	Weak transcription	Pancreas	Pancrea
42	chr11:36646400-36647200	Weak transcription	Thymus	Thymus
43	chr11:36646400-36648600	Weak transcription	Fetal Thymus	thymus
44	chr11:36646400-36677000	Weak transcription	Lung	lung
45	chr11:36646600-36648200	Weak transcription	Fetal Heart	heart
46	chr11:36647200-36650600	Enhancers	Thymus	Thymus
47	chr11:36647400-36647600	ZNF genes & repeats	Pancreas	Pancrea
48	chr11:36647600-36648600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:36647600-36648800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:36647600-36661200	Weak transcription	Pancreas	Pancrea

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