Variant report

Variant	nsv971982
Chromosome Location	chr11:4615442-4616690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200284101	chr11:4615443-4615444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189534782	chr11:4615452-4615453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200837036	chr11:4615462-4615463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577731302	chr11:4615474-4615475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181769683	chr11:4615507-4615508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2010719	chr11:4615508-4615509	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527975788	chr11:4615513-4615514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs267602888	chr11:4615528-4615529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543346941	chr11:4615531-4615532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140688996	chr11:4615541-4615542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374905017	chr11:4615547-4615548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186190896	chr11:4615553-4615554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199794284	chr11:4615581-4615582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550421961	chr11:4615603-4615604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571333712	chr11:4615613-4615614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374480881	chr11:4615615-4615616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530036469	chr11:4615616-4615617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371009001	chr11:4615619-4615620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547072023	chr11:4615633-4615634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374097102	chr11:4615657-4615658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377218673	chr11:4615679-4615680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202168611	chr11:4615690-4615691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370484254	chr11:4615691-4615692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536139106	chr11:4615697-4615698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189435268	chr11:4615721-4615722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367735911	chr11:4615744-4615745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569635570	chr11:4615764-4615765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370070903	chr11:4615765-4615766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200585398	chr11:4615767-4615768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181547054	chr11:4615769-4615770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201674230	chr11:4615771-4615772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553873115	chr11:4615774-4615775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535693071	chr11:4615777-4615778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572439587	chr11:4615779-4615780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562564619	chr11:4615783-4615784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542932661	chr11:4615806-4615807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139291466	chr11:4615815-4615816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149931484	chr11:4615818-4615819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200268706	chr11:4615825-4615826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113315148	chr11:4615837-4615838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371176531	chr11:4615856-4615857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62622512	chr11:4615857-4615858	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs201555997	chr11:4615859-4615860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78745657	chr11:4615869-4615870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377290169	chr11:4615877-4615878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187135959	chr11:4615882-4615883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374264087	chr11:4615888-4615889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199532550	chr11:4615899-4615900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146674516	chr11:4615905-4615906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372937516	chr11:4615914-4615915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
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
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4610000-4619600	Weak transcription	Left Ventricle	heart
2	chr11:4611000-4616800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:4611600-4621400	Weak transcription	Stomach Mucosa	stomach
4	chr11:4612000-4618600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:4612000-4622400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:4612400-4620800	Weak transcription	Brain Substantia Nigra	brain
7	chr11:4612400-4621400	Weak transcription	Small Intestine	intestine
8	chr11:4612600-4616200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:4612600-4616600	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:4612600-4620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:4612800-4615800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:4612800-4616000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:4612800-4616400	Weak transcription	Ovary	ovary
14	chr11:4612800-4618000	Weak transcription	Primary B cells from cord blood	blood
15	chr11:4612800-4621000	Weak transcription	A549	lung
16	chr11:4613000-4619600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr11:4613400-4619600	Weak transcription	Psoas Muscle	Psoas
18	chr11:4613600-4618600	Weak transcription	Aorta	Aorta
19	chr11:4613600-4619600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:4613600-4621000	Weak transcription	Fetal Kidney	kidney
21	chr11:4613800-4616200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:4613800-4618000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:4613800-4618600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:4613800-4619400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:4614000-4619800	Weak transcription	Fetal Lung	lung
26	chr11:4614200-4618400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:4614200-4619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:4614200-4620000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:4614400-4616000	Weak transcription	Adipose Nuclei	Adipose
30	chr11:4614400-4618800	Weak transcription	Gastric	stomach
31	chr11:4614600-4616200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:4614600-4618600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr11:4614600-4618600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:4614600-4618600	Weak transcription	Fetal Stomach	stomach
35	chr11:4614600-4620600	Weak transcription	Lung	lung
36	chr11:4614600-4621200	Weak transcription	NHDF-Ad	bronchial
37	chr11:4614600-4622200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:4614800-4618000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:4614800-4618600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr11:4614800-4618600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:4614800-4618800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:4614800-4619000	Weak transcription	Brain Angular Gyrus	brain
43	chr11:4614800-4619200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:4614800-4621400	Weak transcription	HMEC	breast
45	chr11:4615000-4619800	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:4615000-4621200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:4615200-4618000	Weak transcription	Liver	Liver
48	chr11:4615200-4618600	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:4615200-4619600	Weak transcription	Pancreas	Pancrea
50	chr11:4615200-4619600	Weak transcription	Thymus	Thymus

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