Variant report

Variant	nsv976866
Chromosome Location	chr15:56145370-56147851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56138547..56140362-chr15:56145607..56147733,2	MCF-7	breast:
2	chr15:56146351..56148212-chr15:56150216..56152289,2	K562	blood:
3	chr15:56146576..56148212-chr15:56149809..56151716,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571082128	chr15:56145398-56145399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533917302	chr15:56145404-56145405	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200727276	chr15:56145458-56145459	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527593934	chr15:56145513-56145514	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567296886	chr15:56145532-56145533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547356766	chr15:56145552-56145553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535870156	chr15:56145564-56145565	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74015308	chr15:56145579-56145580	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560962029	chr15:56145678-56145679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186131429	chr15:56145697-56145698	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539308611	chr15:56145705-56145706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190987057	chr15:56145706-56145707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184034617	chr15:56145757-56145758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541553657	chr15:56145758-56145759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188963746	chr15:56145844-56145845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574829745	chr15:56145853-56145854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543421742	chr15:56145875-56145876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190719378	chr15:56145896-56145897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531523343	chr15:56145922-56145923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551240426	chr15:56145923-56145924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565123522	chr15:56145924-56145925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527487669	chr15:56145925-56145926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547518205	chr15:56145933-56145934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567256232	chr15:56145935-56145936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75102172	chr15:56145998-56145999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564500701	chr15:56146018-56146019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4774831	chr15:56146079-56146080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569645072	chr15:56146112-56146113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539373213	chr15:56146132-56146133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77842879	chr15:56146175-56146176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559282401	chr15:56146182-56146183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572644154	chr15:56146187-56146188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs8024026	chr15:56146222-56146223	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138186256	chr15:56146237-56146238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555103563	chr15:56146246-56146247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368656606	chr15:56146297-56146298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543483229	chr15:56146304-56146305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531624740	chr15:56146312-56146313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556964478	chr15:56146316-56146317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116820411	chr15:56146325-56146326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544943315	chr15:56146356-56146357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565031723	chr15:56146360-56146361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149592369	chr15:56146421-56146422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540880593	chr15:56146444-56146445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56753697	chr15:56146471-56146472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371915436	chr15:56146501-56146502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187186023	chr15:56146502-56146503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144322621	chr15:56146513-56146514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369800950	chr15:56146608-56146609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549884145	chr15:56146618-56146619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56115400-56148000	Weak transcription	Ovary	ovary
2	chr15:56116600-56150600	Weak transcription	Right Ventricle	heart
3	chr15:56116800-56162200	Weak transcription	Fetal Heart	heart
4	chr15:56118600-56151000	Weak transcription	Fetal Kidney	kidney
5	chr15:56118800-56147000	Weak transcription	Gastric	stomach
6	chr15:56118800-56149200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:56118800-56151400	Weak transcription	Brain Anterior Caudate	brain
8	chr15:56120000-56147800	Weak transcription	HepG2	liver
9	chr15:56120600-56146600	Weak transcription	Pancreas	Pancrea
10	chr15:56120800-56147200	Weak transcription	Thymus	Thymus
11	chr15:56121200-56147200	Weak transcription	Spleen	Spleen
12	chr15:56122600-56152000	Weak transcription	Fetal Thymus	thymus
13	chr15:56122600-56153800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr15:56122600-56154800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr15:56122600-56156600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:56122800-56147200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:56122800-56147600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:56122800-56156000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr15:56127200-56155400	Strong transcription	Osteobl	bone
20	chr15:56127200-56155800	Strong transcription	HSMM	muscle
21	chr15:56129000-56157400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:56129600-56147400	Weak transcription	Esophagus	oesophagus
23	chr15:56129800-56146600	Weak transcription	NHLF	lung
24	chr15:56132000-56164800	Weak transcription	Small Intestine	intestine
25	chr15:56133000-56152600	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:56133600-56154400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr15:56134200-56150600	Weak transcription	Left Ventricle	heart
28	chr15:56134400-56147400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:56134400-56150000	Weak transcription	Psoas Muscle	Psoas
30	chr15:56134400-56156600	Weak transcription	Colon Smooth Muscle	Colon
31	chr15:56134800-56151800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:56135000-56156600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:56135200-56146000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr15:56135200-56152600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr15:56135400-56147800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:56135600-56145400	Weak transcription	HUVEC	blood vessel
37	chr15:56136400-56145800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:56138200-56161800	Weak transcription	K562	blood
39	chr15:56138400-56149000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:56138600-56154400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:56138800-56152800	Weak transcription	GM12878-XiMat	blood
42	chr15:56139400-56155400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr15:56139600-56153200	Strong transcription	NHEK	skin
44	chr15:56140000-56147800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:56140000-56148800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:56140000-56149200	Strong transcription	NH-A	brain
47	chr15:56140000-56152000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr15:56140200-56149000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:56140200-56155600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:56140600-56146200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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