Variant report

Variant	nsv569548
Chromosome Location	chr15:56776479-56795638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:56782970..56783589-chr15:57598753..57599463,2	MCF-7	breast:
2	chr15:56788444..56789415-chr15:57598413..57599206,3	K562	blood:
3	chr15:56788702..56789394-chr15:57161523..57162414,2	MCF-7	breast:
4	chr15:56775436..56776246-chr15:56784313..56784975,2	K562	blood:
5	chr15:56788688..56789403-chr15:57430424..57431057,2	MCF-7	breast:
6	chr15:56788753..56789362-chr15:57161247..57161954,2	K562	blood:
7	chr15:56791160..56793250-chr15:56794933..56796796,2	K562	blood:
8	chr15:56782685..56785505-chr15:57019755..57021681,2	K562	blood:
9	chr15:56791160..56793250-chr15:56794933..56796796,2	K562	blood:
10	chr15:56788863..56789371-chr16:34759996..34760825,2	MCF-7	breast:
11	chr15:56783040..56784156-chr15:57161563..57162645,6	K562	blood:
12	chr15:56788851..56789408-chr15:57103635..57104349,2	MCF-7	breast:
13	chr15:56788456..56789162-chr15:57113822..57114589,2	MCF-7	breast:
14	chr15:56787707..56790107-chr15:57597582..57600140,2	MCF-7	breast:

No data

Extended variants
information (count: 761 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1715923	chr15:56776479-56776480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181861431	chr15:56776512-56776513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184719728	chr15:56776722-56776723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369988648	chr15:56776725-56776726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537411762	chr15:56776727-56776728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373603995	chr15:56776749-56776750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79418711	chr15:56776784-56776785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146205921	chr15:56776842-56776843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190210427	chr15:56776854-56776855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117932247	chr15:56776857-56776858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573878492	chr15:56776882-56776883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542964227	chr15:56776916-56776917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114163227	chr15:56776917-56776918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs66686937	chr15:56776954-56776955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544569243	chr15:56776983-56776984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141562964	chr15:56776995-56776996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146045362	chr15:56776997-56776998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201609743	chr15:56776998-56776999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75860429	chr15:56777004-56777005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533451834	chr15:56777022-56777023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372394721	chr15:56777040-56777041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551224524	chr15:56777045-56777046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149738288	chr15:56777050-56777051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540498589	chr15:56777069-56777070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560760900	chr15:56777070-56777071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs5812840	chr15:56777072-56777073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112234892	chr15:56777079-56777080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549277688	chr15:56777081-56777082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562796636	chr15:56777083-56777084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116412416	chr15:56777088-56777089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181322080	chr15:56777090-56777091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533860211	chr15:56777100-56777101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6145570	chr15:56777102-56777103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186324657	chr15:56777115-56777116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71441443	chr15:56777119-56777120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139234949	chr15:56777133-56777134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72475916	chr15:56777157-56777158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548272322	chr15:56777164-56777165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556499693	chr15:56777199-56777200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1715924	chr15:56777233-56777234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190856807	chr15:56777246-56777247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376598814	chr15:56777249-56777250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577931517	chr15:56777257-56777258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2676746	chr15:56777309-56777310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545517988	chr15:56777342-56777343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560346205	chr15:56777415-56777416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs573902538	chr15:56777423-56777424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs368669739	chr15:56777430-56777431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs373541579	chr15:56777443-56777444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs562881912	chr15:56777451-56777452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56775800-56777400	Weak transcription	Fetal Thymus	thymus
2	chr15:56777400-56778200	ZNF genes & repeats	Fetal Thymus	thymus
3	chr15:56778200-56778400	Weak transcription	Fetal Thymus	thymus
4	chr15:56778400-56781200	Strong transcription	Fetal Thymus	thymus
5	chr15:56781200-56782600	Genic enhancers	Fetal Thymus	thymus
6	chr15:56782200-56783200	Enhancers	Thymus	Thymus
7	chr15:56782600-56782800	Enhancers	Fetal Thymus	thymus
8	chr15:56782800-56783200	Enhancers	Stomach Mucosa	stomach
9	chr15:56782800-56783400	Flanking Active TSS	Fetal Thymus	thymus
10	chr15:56782800-56784000	Enhancers	Dnd41	blood
11	chr15:56783200-56783400	Weak transcription	Thymus	Thymus
12	chr15:56783200-56786600	Weak transcription	Stomach Mucosa	stomach
13	chr15:56783400-56783800	Enhancers	Brain Hippocampus Middle	brain
14	chr15:56783400-56783800	Active TSS	Fetal Thymus	thymus
15	chr15:56783400-56783800	Active TSS	Thymus	Thymus
16	chr15:56783800-56785400	Flanking Active TSS	Thymus	Thymus
17	chr15:56783800-56785600	Flanking Active TSS	Fetal Thymus	thymus
18	chr15:56783800-56789000	Weak transcription	Brain Hippocampus Middle	brain
19	chr15:56784000-56784200	Flanking Active TSS	Dnd41	blood
20	chr15:56784200-56784600	Enhancers	Dnd41	blood
21	chr15:56784400-56785400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:56784400-56785800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr15:56784600-56785000	Enhancers	Fetal Muscle Leg	muscle
24	chr15:56784600-56785400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:56784600-56786200	Flanking Active TSS	Dnd41	blood
26	chr15:56785200-56785400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr15:56785400-56789000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:56785400-56789000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:56785400-56789200	Enhancers	Thymus	Thymus
30	chr15:56785600-56786200	Genic enhancers	Fetal Thymus	thymus
31	chr15:56786200-56787800	Enhancers	Dnd41	blood
32	chr15:56786200-56789400	Enhancers	Fetal Thymus	thymus
33	chr15:56786600-56787000	Enhancers	Colonic Mucosa	Colon
34	chr15:56786600-56788000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr15:56786600-56788000	Enhancers	Stomach Mucosa	stomach
36	chr15:56786600-56788400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr15:56787000-56788200	Enhancers	Fetal Intestine Small	intestine
38	chr15:56787400-56787800	Enhancers	Duodenum Mucosa	Duodenum
39	chr15:56787400-56788200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:56787400-56788200	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr15:56787800-56788800	Weak transcription	Dnd41	blood
42	chr15:56787800-56789000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr15:56788000-56788200	Enhancers	Fetal Intestine Large	intestine
44	chr15:56788000-56788800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr15:56788000-56789000	Weak transcription	Stomach Mucosa	stomach
46	chr15:56788200-56788800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr15:56788200-56789000	Weak transcription	Fetal Intestine Large	intestine
48	chr15:56788200-56789200	Weak transcription	Fetal Intestine Small	intestine
49	chr15:56788400-56788800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr15:56788800-56789000	Enhancers	Brain Angular Gyrus	brain

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