Variant report

Variant	nsv569575
Chromosome Location	chr15:56806173-56826225
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:56811740..56813746-chr15:56822934..56825907,2	K562	blood:
2	chr15:56817798..56822839-chr15:56825097..56828742,5	K562	blood:
3	chr15:56817798..56822286-chr15:56825097..56828742,4	K562	blood:
4	chr15:56811740..56813746-chr15:56822934..56825907,2	K562	blood:
5	chr15:56814069..56816681-chr15:56818491..56820321,2	K562	blood:
6	chr15:56817798..56822839-chr15:56825097..56828742,5	K562	blood:
7	chr15:56817798..56822286-chr15:56825097..56828742,4	K562	blood:
8	chr15:56814069..56816681-chr15:56818491..56820321,2	K562	blood:

No data

Extended variants
information (count: 415 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112520477	chr15:56815207-56815208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181256262	chr15:56815242-56815243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150108468	chr15:56815251-56815252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79499876	chr15:56815286-56815287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550771638	chr15:56815300-56815301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570703031	chr15:56815307-56815308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533729332	chr15:56815328-56815329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546957515	chr15:56815335-56815336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566495214	chr15:56815348-56815349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114093440	chr15:56815394-56815395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560693001	chr15:56815443-56815444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185218930	chr15:56815481-56815482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1715885	chr15:56815484-56815485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571308251	chr15:56815495-56815496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188000857	chr15:56815500-56815501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535439270	chr15:56815509-56815510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1715886	chr15:56815521-56815522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs113777082	chr15:56815572-56815573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113355657	chr15:56815577-56815578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573854367	chr15:56815587-56815588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541864612	chr15:56815595-56815596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561708693	chr15:56815608-56815609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs57123762	chr15:56815652-56815653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544297230	chr15:56815670-56815671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563973799	chr15:56815679-56815680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564368331	chr15:56815709-56815710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147396591	chr15:56815716-56815717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569765826	chr15:56815723-56815724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547135846	chr15:56815725-56815726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138115662	chr15:56815742-56815743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538837272	chr15:56815758-56815759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529542860	chr15:56815761-56815762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60076873	chr15:56815788-56815789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568857986	chr15:56815795-56815796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538877951	chr15:56815835-56815836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10431786	chr15:56815840-56815841	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368093834	chr15:56815906-56815907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557863055	chr15:56815907-56815908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571289106	chr15:56815996-56815997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143688077	chr15:56816041-56816042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181895455	chr15:56816045-56816046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186154891	chr15:56816102-56816103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542504189	chr15:56816105-56816106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555389082	chr15:56816128-56816129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575212897	chr15:56816129-56816130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1715887	chr15:56816155-56816156	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1715888	chr15:56816159-56816160	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs78036977	chr15:56816177-56816178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190568514	chr15:56816180-56816181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554966375	chr15:56816289-56816290	Weak transcription Enhancers	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56815200-56818000	Enhancers	HSMM	muscle
2	chr15:56815400-56816400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr15:56815600-56815800	Enhancers	Thymus	Thymus
4	chr15:56815600-56815800	Enhancers	HSMMtube	muscle
5	chr15:56815600-56817600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr15:56815800-56816400	Weak transcription	HSMMtube	muscle
7	chr15:56815800-56822000	Weak transcription	Thymus	Thymus
8	chr15:56816000-56816200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:56816200-56816800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:56816400-56816800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:56816400-56818000	Enhancers	HSMMtube	muscle
12	chr15:56816600-56817800	Enhancers	NHDF-Ad	bronchial
13	chr15:56816800-56817200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:56816800-56817400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:56817000-56817200	Enhancers	Aorta	Aorta
16	chr15:56817000-56817600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:56817000-56817600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:56817000-56817800	Enhancers	Fetal Muscle Leg	muscle
19	chr15:56817400-56818000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:56817600-56820000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:56817600-56820200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:56818000-56820200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:56818400-56818800	Enhancers	Dnd41	blood
24	chr15:56818800-56822000	Weak transcription	Dnd41	blood
25	chr15:56820000-56820800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr15:56820000-56820800	Enhancers	Ovary	ovary
27	chr15:56820000-56820800	Bivalent Enhancer	NHDF-Ad	bronchial
28	chr15:56820200-56820400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:56820200-56820400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:56820200-56820600	Bivalent Enhancer	Osteobl	bone
31	chr15:56820200-56820800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:56820200-56820800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:56820200-56820800	Enhancers	Stomach Smooth Muscle	stomach
34	chr15:56820400-56820600	Bivalent Enhancer	HUVEC	blood vessel
35	chr15:56820800-56824600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:56820800-56824600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr15:56822000-56824000	Enhancers	Dnd41	blood
38	chr15:56822000-56825000	Enhancers	Thymus	Thymus
39	chr15:56822000-56832200	Enhancers	Fetal Thymus	thymus
40	chr15:56822200-56822400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:56824000-56825000	Flanking Active TSS	Dnd41	blood
42	chr15:56824000-56826800	Enhancers	Fetal Muscle Leg	muscle
43	chr15:56824200-56824800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr15:56824400-56825200	Enhancers	Primary B cells from cord blood	blood
45	chr15:56824400-56827200	Enhancers	Fetal Brain Male	brain
46	chr15:56824600-56825600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:56824600-56825600	Enhancers	Brain Germinal Matrix	brain
48	chr15:56824600-56825800	Enhancers	HSMM	muscle
49	chr15:56824600-56827000	Enhancers	Stomach Smooth Muscle	stomach
50	chr15:56824800-56825000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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