Variant report

Variant	esv3332270
Chromosome Location	chr15:77014424-77015725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534351511	chr15:77014433-77014434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs166793	chr15:77014435-77014436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567219695	chr15:77014438-77014439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113765767	chr15:77014452-77014453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537960229	chr15:77014474-77014475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113284359	chr15:77014475-77014476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185702457	chr15:77014484-77014485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs8036476	chr15:77014510-77014511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113588049	chr15:77014547-77014548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544898373	chr15:77014558-77014559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553690170	chr15:77014605-77014606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572016957	chr15:77014620-77014621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542365288	chr15:77014628-77014629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561153883	chr15:77014662-77014663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373396346	chr15:77014663-77014664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188826164	chr15:77014680-77014681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544720016	chr15:77014729-77014730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562736384	chr15:77014743-77014744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533409217	chr15:77014782-77014783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563516739	chr15:77014795-77014796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147047918	chr15:77014823-77014824	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs567125521	chr15:77014846-77014847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144221837	chr15:77014847-77014848	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs549273975	chr15:77014877-77014878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181299924	chr15:77014898-77014899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188776173	chr15:77014906-77014907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537520098	chr15:77014909-77014910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556268065	chr15:77014954-77014955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571146598	chr15:77015019-77015020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538206201	chr15:77015060-77015061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553354103	chr15:77015104-77015105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571980207	chr15:77015105-77015106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185757705	chr15:77015111-77015112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191109321	chr15:77015127-77015128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200570966	chr15:77015165-77015166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183698120	chr15:77015177-77015178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576234559	chr15:77015197-77015198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56339024	chr15:77015200-77015201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs187610807	chr15:77015223-77015224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548070067	chr15:77015232-77015233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545394492	chr15:77015242-77015243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201059915	chr15:77015247-77015248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74459578	chr15:77015275-77015276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560493747	chr15:77015317-77015318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527971503	chr15:77015337-77015338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549675226	chr15:77015341-77015342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149172875	chr15:77015402-77015403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143276231	chr15:77015428-77015429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550116490	chr15:77015514-77015515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148355533	chr15:77015548-77015549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76989600-77055800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr15:76990200-77025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:76990400-77019000	Weak transcription	Fetal Kidney	kidney
4	chr15:76991000-77020400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:76992400-77056200	Weak transcription	Colon Smooth Muscle	Colon
6	chr15:76992400-77056200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:76992600-77017200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:76992800-77017200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr15:76992800-77056000	Weak transcription	Right Ventricle	heart
10	chr15:76993000-77017600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr15:76993000-77017800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr15:76993000-77020200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:76993000-77024800	Weak transcription	Gastric	stomach
14	chr15:76993000-77024800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr15:76993000-77024800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:76993000-77025000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:76993000-77025000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:76993200-77020200	Weak transcription	Brain Hippocampus Middle	brain
19	chr15:76993200-77056200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr15:76994200-77056000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:76994800-77019000	Weak transcription	Placenta	Placenta
22	chr15:76994800-77020000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr15:76995800-77020400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr15:76996000-77017600	Weak transcription	Primary B cells from cord blood	blood
25	chr15:76996000-77025000	Weak transcription	Left Ventricle	heart
26	chr15:77007000-77017200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr15:77007000-77020200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr15:77007000-77025000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:77007600-77029800	Weak transcription	Brain Angular Gyrus	brain
30	chr15:77007800-77017200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:77008200-77019400	Weak transcription	Fetal Thymus	thymus
32	chr15:77008200-77020600	Weak transcription	Aorta	Aorta
33	chr15:77008200-77025200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr15:77008600-77017200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr15:77008600-77020600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:77008600-77020600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr15:77008600-77024800	Weak transcription	Pancreas	Pancrea
38	chr15:77008600-77025200	Weak transcription	Esophagus	oesophagus
39	chr15:77008600-77030000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr15:77008800-77017200	Weak transcription	Liver	Liver
41	chr15:77008800-77017200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr15:77008800-77019000	Weak transcription	Ovary	ovary
43	chr15:77008800-77020200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:77008800-77020600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr15:77008800-77020800	Weak transcription	Fetal Stomach	stomach
46	chr15:77008800-77037400	Weak transcription	Fetal Brain Male	brain
47	chr15:77009400-77017200	Weak transcription	Fetal Lung	lung
48	chr15:77010400-77017600	Weak transcription	Dnd41	blood
49	chr15:77011000-77017000	Weak transcription	Fetal Intestine Small	intestine
50	chr15:77011000-77017200	Weak transcription	Fetal Intestine Large	intestine

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