Variant report

Variant	nsv570247
Chromosome Location	chr15:82537354-82540174
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: 113 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4778672	chr15:82537354-82537355	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4778987	chr15:82537446-82537447	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535005686	chr15:82537502-82537503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564712995	chr15:82537543-82537544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144549145	chr15:82537568-82537569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540864844	chr15:82537632-82537633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116742114	chr15:82537650-82537651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529987415	chr15:82537689-82537690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549310956	chr15:82537700-82537701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569166922	chr15:82537792-82537793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531796494	chr15:82537812-82537813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551925590	chr15:82537831-82537832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186574628	chr15:82537837-82537838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534382492	chr15:82537839-82537840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190246980	chr15:82537862-82537863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114586219	chr15:82537939-82537940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs181981503	chr15:82537949-82537950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74249839	chr15:82537997-82537998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs575972504	chr15:82538022-82538023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111536122	chr15:82538047-82538048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545019651	chr15:82538061-82538062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534363561	chr15:82538088-82538089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7176926	chr15:82538094-82538095	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs571846756	chr15:82538101-82538102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540821765	chr15:82538121-82538122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28470877	chr15:82538138-82538139	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs529961649	chr15:82538150-82538151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538320402	chr15:82538154-82538155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556753965	chr15:82538158-82538159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575383114	chr15:82538162-82538163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531585763	chr15:82538169-82538170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148770908	chr15:82538184-82538185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571765658	chr15:82538260-82538261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113073635	chr15:82538275-82538276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527788967	chr15:82538400-82538401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547969649	chr15:82538411-82538412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567777612	chr15:82538496-82538497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186478384	chr15:82538512-82538513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35216927	chr15:82538553-82538554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536425241	chr15:82538573-82538574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550183799	chr15:82538578-82538579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570358903	chr15:82538583-82538584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374904607	chr15:82538627-82538628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200923002	chr15:82538638-82538639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189774279	chr15:82538683-82538684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571763967	chr15:82538706-82538707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534422848	chr15:82538707-82538708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182382201	chr15:82538751-82538752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111380083	chr15:82538756-82538757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573052502	chr15:82538775-82538776	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:164 , 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	chr15:82512600-82539600	Weak transcription	Spleen	Spleen
17	chr15:82515800-82553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr15:82520000-82553000	Weak transcription	Gastric	stomach
19	chr15:82520000-82553000	Weak transcription	Right Ventricle	heart
20	chr15:82520000-82553400	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:82520000-82554200	Weak transcription	Pancreas	Pancrea
22	chr15:82520200-82553000	Weak transcription	Psoas Muscle	Psoas
23	chr15:82520200-82554400	Weak transcription	Esophagus	oesophagus
24	chr15:82523000-82550000	Weak transcription	Brain Anterior Caudate	brain
25	chr15:82523600-82553400	Weak transcription	Fetal Kidney	kidney
26	chr15:82524000-82545400	Weak transcription	Fetal Intestine Small	intestine
27	chr15:82524800-82552600	Weak transcription	K562	blood
28	chr15:82531800-82543200	Weak transcription	Fetal Stomach	stomach
29	chr15:82532000-82554000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:82532400-82549800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:82532600-82543600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:82532600-82550600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:82532600-82552800	Weak transcription	Fetal Brain Female	brain
34	chr15:82532600-82553400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr15:82532800-82539400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:82532800-82539400	Weak transcription	Hela-S3	cervix
37	chr15:82532800-82550400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr15:82532800-82550600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr15:82533000-82539000	Weak transcription	HSMMtube	muscle
40	chr15:82533000-82543200	Weak transcription	Placenta	Placenta
41	chr15:82533000-82544400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr15:82533000-82553000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr15:82533000-82553400	Weak transcription	Colon Smooth Muscle	Colon
44	chr15:82533200-82540800	Weak transcription	NHDF-Ad	bronchial
45	chr15:82533200-82545600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr15:82533200-82545600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:82533200-82550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr15:82533200-82552200	Weak transcription	Fetal Brain Male	brain
49	chr15:82533200-82553000	Weak transcription	NHLF	lung
50	chr15:82533200-82553200	Weak transcription	Brain Germinal Matrix	brain

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