Variant report

Variant	nsv984099
Chromosome Location	chr15:82540896-82544978
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	chr15:82540150..82542827-chr15:82551322..82553905,2	K562	blood:

Extended variants
information (count: 136 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550119216	chr15:82540909-82540910	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35786339	chr15:82540970-82540971	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371571736	chr15:82541003-82541004	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150371984	chr15:82541111-82541112	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529766040	chr15:82541150-82541151	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75304191	chr15:82541211-82541212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533060705	chr15:82541297-82541298	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184967712	chr15:82541318-82541319	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61277938	chr15:82541348-82541349	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199550834	chr15:82541365-82541366	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374772898	chr15:82541368-82541369	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546780447	chr15:82541398-82541399	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369763573	chr15:82541399-82541400	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189843453	chr15:82541421-82541422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535361650	chr15:82541456-82541457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566690475	chr15:82541464-82541465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138056274	chr15:82541466-82541467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569093249	chr15:82541472-82541473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117443990	chr15:82541499-82541500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181702862	chr15:82541505-82541506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576880115	chr15:82541514-82541515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539559990	chr15:82541517-82541518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553123156	chr15:82541547-82541548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184812173	chr15:82541549-82541550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573362851	chr15:82541575-82541576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542091622	chr15:82541584-82541585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562395126	chr15:82541591-82541592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575893797	chr15:82541604-82541605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567264187	chr15:82541642-82541643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544178087	chr15:82541675-82541676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564078345	chr15:82541767-82541768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533027583	chr15:82541784-82541785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546742032	chr15:82541789-82541790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189626875	chr15:82541790-82541791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529072380	chr15:82541814-82541815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570747224	chr15:82541823-82541824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145692867	chr15:82541851-82541852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569131723	chr15:82541863-82541864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537752999	chr15:82541893-82541894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550526332	chr15:82541951-82541952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570533164	chr15:82541965-82541966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539474883	chr15:82542022-82542023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553033305	chr15:82542077-82542078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368561564	chr15:82542079-82542080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538254700	chr15:82542105-82542106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536043052	chr15:82542113-82542114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138274805	chr15:82542120-82542121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575851507	chr15:82542164-82542165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368333167	chr15:82542174-82542175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180855079	chr15:82542178-82542179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82432600-82552800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:82481800-82553000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:82497000-82553600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:82499000-82550800	Weak transcription	HUVEC	blood vessel
5	chr15:82499400-82553000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:82501800-82544600	Weak transcription	Brain Angular Gyrus	brain
7	chr15:82503000-82542200	Weak transcription	Stomach Mucosa	stomach
8	chr15:82503200-82552800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:82503600-82553000	Weak transcription	Small Intestine	intestine
10	chr15:82503800-82553200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:82504200-82553200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:82507400-82553000	Weak transcription	NH-A	brain
13	chr15:82508200-82553800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:82510800-82554200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:82511800-82554200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:82515800-82553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr15:82520000-82553000	Weak transcription	Gastric	stomach
18	chr15:82520000-82553000	Weak transcription	Right Ventricle	heart
19	chr15:82520000-82553400	Weak transcription	Brain Hippocampus Middle	brain
20	chr15:82520000-82554200	Weak transcription	Pancreas	Pancrea
21	chr15:82520200-82553000	Weak transcription	Psoas Muscle	Psoas
22	chr15:82520200-82554400	Weak transcription	Esophagus	oesophagus
23	chr15:82523000-82550000	Weak transcription	Brain Anterior Caudate	brain
24	chr15:82523600-82553400	Weak transcription	Fetal Kidney	kidney
25	chr15:82524000-82545400	Weak transcription	Fetal Intestine Small	intestine
26	chr15:82524800-82552600	Weak transcription	K562	blood
27	chr15:82531800-82543200	Weak transcription	Fetal Stomach	stomach
28	chr15:82532000-82554000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:82532400-82549800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:82532600-82543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:82532600-82550600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:82532600-82552800	Weak transcription	Fetal Brain Female	brain
33	chr15:82532600-82553400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:82532800-82550400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr15:82532800-82550600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr15:82533000-82543200	Weak transcription	Placenta	Placenta
37	chr15:82533000-82544400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr15:82533000-82553000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr15:82533000-82553400	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:82533200-82545600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr15:82533200-82545600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:82533200-82550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr15:82533200-82552200	Weak transcription	Fetal Brain Male	brain
44	chr15:82533200-82553000	Weak transcription	NHLF	lung
45	chr15:82533200-82553200	Weak transcription	Brain Germinal Matrix	brain
46	chr15:82533200-82553200	Weak transcription	A549	lung
47	chr15:82533200-82553600	Weak transcription	Fetal Lung	lung
48	chr15:82533400-82543000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:82533400-82544600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:82533400-82544600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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