Variant report

Variant	nsv1038712
Chromosome Location	chr15:56779185-56792111
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

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

No data

Extended variants
information (count: 495 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:495 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17238775	chr15:56779185-56779186	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144017144	chr15:56779239-56779240	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192661087	chr15:56779290-56779291	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538780239	chr15:56779340-56779341	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182406034	chr15:56779359-56779360	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79624052	chr15:56779436-56779437	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550757838	chr15:56779442-56779443	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570529746	chr15:56779444-56779445	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186790479	chr15:56779448-56779449	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192669898	chr15:56779487-56779488	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184763039	chr15:56779528-56779529	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556663671	chr15:56779530-56779531	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78940500	chr15:56779582-56779583	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545593970	chr15:56779597-56779598	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80195313	chr15:56779608-56779609	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1715929	chr15:56779725-56779726	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541620936	chr15:56779734-56779735	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561686182	chr15:56779745-56779746	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150538611	chr15:56779858-56779859	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550176671	chr15:56779863-56779864	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190011472	chr15:56779867-56779868	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1715930	chr15:56779906-56779907	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs193048441	chr15:56779907-56779908	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74015439	chr15:56779953-56779954	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535276652	chr15:56779956-56779957	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11635206	chr15:56779966-56779967	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149726824	chr15:56779971-56779972	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145610546	chr15:56779976-56779977	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141403784	chr15:56779980-56779981	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1715931	chr15:56779999-56780000	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147655946	chr15:56780054-56780055	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114857467	chr15:56780097-56780098	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184829275	chr15:56780105-56780106	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555468296	chr15:56780122-56780123	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367816361	chr15:56780178-56780179	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142348526	chr15:56780186-56780187	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58902133	chr15:56780227-56780228	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111673073	chr15:56780254-56780255	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201425377	chr15:56780257-56780258	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11071269	chr15:56780263-56780264	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564360957	chr15:56780268-56780269	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532449157	chr15:56780320-56780321	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78718629	chr15:56780326-56780327	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559922178	chr15:56780384-56780385	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528577775	chr15:56780469-56780470	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115763994	chr15:56780470-56780471	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35412734	chr15:56780478-56780479	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189973512	chr15:56780488-56780489	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578191653	chr15:56780504-56780505	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540812457	chr15:56780510-56780511	Strong transcription	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:115 , 50 per page) page: 1 2 3

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

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