Variant report

Variant	nsv984094
Chromosome Location	chr15:77603568-77608639
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	chr15:77603476..77605050-chr15:77627091..77629724,2	K562	blood:
2	chr15:77597221..77600603-chr15:77601241..77604606,4	K562	blood:

Extended variants
information (count: 185 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559990877	chr15:77603576-77603577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543250552	chr15:77603634-77603635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77707277	chr15:77603688-77603689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74248525	chr15:77603705-77603706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527945519	chr15:77603739-77603740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557744361	chr15:77603756-77603757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540976260	chr15:77603766-77603767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386785521	chr15:77603886-77603887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142952452	chr15:77603887-77603888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541943824	chr15:77603946-77603947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369271401	chr15:77603947-77603948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186364752	chr15:77603950-77603951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550122422	chr15:77603973-77603974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79525425	chr15:77604002-77604003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191607657	chr15:77604009-77604010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547726538	chr15:77604013-77604014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377311104	chr15:77604017-77604018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140349617	chr15:77604028-77604029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536277275	chr15:77604043-77604044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111886420	chr15:77604045-77604046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11296386	chr15:77604048-77604049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377258514	chr15:77604049-77604050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374156379	chr15:77604055-77604056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75267930	chr15:77604104-77604105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536823938	chr15:77604105-77604106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541122457	chr15:77604111-77604112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558477423	chr15:77604134-77604135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116163711	chr15:77604163-77604164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114801446	chr15:77604231-77604232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553280008	chr15:77604252-77604253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574463263	chr15:77604273-77604274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145753206	chr15:77604277-77604278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371694196	chr15:77604303-77604304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563337597	chr15:77604322-77604323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575431480	chr15:77604339-77604340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543947229	chr15:77604344-77604345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373576147	chr15:77604356-77604357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565345299	chr15:77604364-77604365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532778816	chr15:77604453-77604454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547766107	chr15:77604469-77604470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181238415	chr15:77604479-77604480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530254066	chr15:77604484-77604485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185447513	chr15:77604486-77604487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371186615	chr15:77604505-77604506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530356298	chr15:77604521-77604522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542448540	chr15:77604596-77604597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79564078	chr15:77604629-77604630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569768736	chr15:77604700-77604701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537159482	chr15:77604774-77604775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552681206	chr15:77604797-77604798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Intellectual disability	22102821	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
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	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

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77577200-77619400	Weak transcription	HSMM	muscle
2	chr15:77583000-77603600	Weak transcription	Left Ventricle	heart
3	chr15:77592800-77604000	Weak transcription	NHDF-Ad	bronchial
4	chr15:77597400-77604800	Weak transcription	Psoas Muscle	Psoas
5	chr15:77598800-77609800	Weak transcription	Brain Angular Gyrus	brain
6	chr15:77599600-77604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:77599800-77603600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:77600200-77605000	Weak transcription	Colon Smooth Muscle	Colon
9	chr15:77600400-77605000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:77601800-77603800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:77602000-77604000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:77602400-77605400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:77602800-77604000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:77602800-77604000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:77602800-77604800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:77603000-77603600	Enhancers	Stomach Mucosa	stomach
17	chr15:77603000-77604400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:77603000-77605200	Enhancers	A549	lung
19	chr15:77603000-77605400	Enhancers	Adipose Nuclei	Adipose
20	chr15:77603000-77605600	Enhancers	HepG2	liver
21	chr15:77603400-77603600	Enhancers	Right Ventricle	heart
22	chr15:77603400-77604800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:77603400-77604800	Enhancers	Osteobl	bone
24	chr15:77603400-77633400	Weak transcription	Primary B cells from cord blood	blood
25	chr15:77603600-77605000	Weak transcription	Right Ventricle	heart
26	chr15:77603600-77605200	Enhancers	Left Ventricle	heart
27	chr15:77603600-77606000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr15:77603800-77604800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:77603800-77606400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:77604000-77604200	Enhancers	Ovary	ovary
31	chr15:77604000-77605000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:77604000-77605200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:77604000-77605200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr15:77604000-77605200	Enhancers	Fetal Intestine Large	intestine
35	chr15:77604000-77605400	Enhancers	NH-A	brain
36	chr15:77604000-77605400	Enhancers	NHEK	skin
37	chr15:77604000-77605600	Enhancers	HMEC	breast
38	chr15:77604000-77605800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:77604000-77605800	Enhancers	NHDF-Ad	bronchial
40	chr15:77604000-77606000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:77604200-77604400	Enhancers	Fetal Intestine Small	intestine
42	chr15:77604400-77605000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:77604400-77605200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:77604400-77605400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:77604600-77605200	Enhancers	NHLF	lung
46	chr15:77604800-77605000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr15:77604800-77605000	Flanking Active TSS	Osteobl	bone
48	chr15:77604800-77605200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:77604800-77605200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:77604800-77605200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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