Variant report

Variant	esv1802493
Chromosome Location	chr15:77666322-77673459
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77664650..77667027-chr15:77668705..77670946,2	K562	blood:
2	chr15:77664650..77667027-chr15:77668705..77670946,2	K562	blood:
3	chr15:77639539..77641421-chr15:77670535..77672553,2	MCF-7	breast:
4	chr15:77665097..77667571-chr15:77669076..77671789,2	MCF-7	breast:
5	chr15:77669352..77671536-chr15:77687037..77689234,2	K562	blood:
6	chr15:77665097..77667571-chr15:77669076..77671789,2	MCF-7	breast:
7	chr15:77671092..77674187-chr15:77674414..77677871,3	K562	blood:

Extended variants
information (count: 227 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551631925	chr15:77666349-77666350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74025195	chr15:77666360-77666361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186054426	chr15:77666380-77666381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575174552	chr15:77666402-77666403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146764214	chr15:77666582-77666583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557047693	chr15:77666651-77666652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140399122	chr15:77666658-77666659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545913237	chr15:77666717-77666718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376904009	chr15:77666727-77666728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190921643	chr15:77666833-77666834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573048356	chr15:77666848-77666849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143243624	chr15:77666902-77666903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561555301	chr15:77666920-77666921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529106261	chr15:77666946-77666947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112228383	chr15:77666949-77666950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562310522	chr15:77666968-77666969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532924068	chr15:77666970-77666971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140511231	chr15:77666990-77666991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369208922	chr15:77667042-77667043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35496234	chr15:77667248-77667249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551116626	chr15:77667391-77667392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549706602	chr15:77667427-77667428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374306423	chr15:77667549-77667550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566566681	chr15:77667634-77667635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533913584	chr15:77667649-77667650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150420873	chr15:77667664-77667665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568671004	chr15:77667737-77667738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368908217	chr15:77667833-77667834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535742272	chr15:77667850-77667851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557621418	chr15:77667878-77667879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186301160	chr15:77667991-77667992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368165983	chr15:77668002-77668003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12912739	chr15:77668023-77668024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs568167212	chr15:77668026-77668027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557771830	chr15:77668027-77668028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190644087	chr15:77668030-77668031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540332922	chr15:77668064-77668065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75329354	chr15:77668065-77668066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573515354	chr15:77668066-77668067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558256845	chr15:77668076-77668077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183182104	chr15:77668103-77668104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562778995	chr15:77668108-77668109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533121260	chr15:77668113-77668114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188602958	chr15:77668134-77668135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560197697	chr15:77668172-77668173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7179314	chr15:77668181-77668182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553999895	chr15:77668204-77668205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549117473	chr15:77668209-77668210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567406198	chr15:77668233-77668234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192761897	chr15:77668256-77668257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77637200-77666800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr15:77639800-77687000	Weak transcription	Primary B cells from cord blood	blood
3	chr15:77645800-77674000	Weak transcription	Ovary	ovary
4	chr15:77645800-77677000	Weak transcription	Right Ventricle	heart
5	chr15:77647000-77687200	Weak transcription	A549	lung
6	chr15:77648600-77685800	Weak transcription	Gastric	stomach
7	chr15:77651600-77674000	Weak transcription	Psoas Muscle	Psoas
8	chr15:77656000-77674000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:77656200-77676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:77656400-77683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:77660400-77671000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:77662000-77667400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:77662200-77677000	Weak transcription	NHDF-Ad	bronchial
14	chr15:77663000-77680200	Weak transcription	Osteobl	bone
15	chr15:77664600-77678200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:77665000-77667600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:77665000-77676800	Weak transcription	Fetal Heart	heart
18	chr15:77665800-77671600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:77666200-77669400	Weak transcription	Left Ventricle	heart
20	chr15:77667600-77667800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr15:77667800-77670200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:77668200-77670200	Weak transcription	Fetal Kidney	kidney
23	chr15:77669400-77669600	Genic enhancers	Left Ventricle	heart
24	chr15:77669400-77683400	Weak transcription	Fetal Stomach	stomach
25	chr15:77669600-77669800	Enhancers	Left Ventricle	heart
26	chr15:77669600-77673600	Weak transcription	Right Atrium	heart
27	chr15:77669800-77672400	Weak transcription	Left Ventricle	heart
28	chr15:77670200-77670400	Enhancers	Fetal Kidney	kidney
29	chr15:77670200-77676600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:77671000-77671400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:77671200-77671400	Enhancers	Aorta	Aorta
32	chr15:77671400-77674000	Weak transcription	Aorta	Aorta
33	chr15:77671400-77675800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:77671800-77673600	Enhancers	Liver	Liver
35	chr15:77671800-77677200	Weak transcription	Primary T cells from cord blood	blood
36	chr15:77672400-77674200	Enhancers	Left Ventricle	heart
37	chr15:77672600-77673800	Enhancers	Pancreas	Pancrea
38	chr15:77673200-77683400	Weak transcription	Primary hematopoietic stem cells	blood

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