Variant report

Variant	nsv569573
Chromosome Location	chr15:56792602-56823787
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	chr15:56791160..56793250-chr15:56794933..56796796,2	K562	blood:
2	chr15:56811740..56813746-chr15:56822934..56825907,2	K562	blood:
3	chr15:56814069..56816681-chr15:56818491..56820321,2	K562	blood:
4	chr15:56814069..56816681-chr15:56818491..56820321,2	K562	blood:
5	chr15:56811740..56813746-chr15:56822934..56825907,2	K562	blood:
6	chr15:56817798..56822839-chr15:56825097..56828742,5	K562	blood:
7	chr15:56791160..56793250-chr15:56794933..56796796,2	K562	blood:
8	chr15:56817798..56822286-chr15:56825097..56828742,4	K562	blood:

No data

Extended variants
information (count: 583 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1711512	chr15:56792602-56792603	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34506118	chr15:56792605-56792606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181842519	chr15:56792622-56792623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543823308	chr15:56792626-56792627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545204338	chr15:56792634-56792635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73417831	chr15:56792674-56792675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577436554	chr15:56792710-56792711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546284599	chr15:56792721-56792722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559904163	chr15:56792777-56792778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115910128	chr15:56792785-56792786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1711511	chr15:56792790-56792791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562236642	chr15:56792808-56792809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs530459387	chr15:56792814-56792815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs572362946	chr15:56792833-56792834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557778098	chr15:56792836-56792837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs184706569	chr15:56792872-56792873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs561290393	chr15:56792877-56792878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372691746	chr15:56792886-56792887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs373621120	chr15:56792953-56792954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550141637	chr15:56792991-56792992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs142842467	chr15:56792992-56792993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7166964	chr15:56793026-56793027	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs61068396	chr15:56793061-56793062	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546338105	chr15:56793209-56793210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146087179	chr15:56793218-56793219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550213813	chr15:56793238-56793239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148718139	chr15:56793263-56793264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563616875	chr15:56793285-56793286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535288966	chr15:56793297-56793298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370112580	chr15:56793358-56793359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140058158	chr15:56793385-56793386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538110350	chr15:56793395-56793396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375084428	chr15:56793470-56793471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532595692	chr15:56793475-56793476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557406110	chr15:56793486-56793487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11857557	chr15:56793502-56793503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12592561	chr15:56793549-56793550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs542425601	chr15:56793551-56793552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77875691	chr15:56793558-56793559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189029048	chr15:56793607-56793608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573422291	chr15:56793634-56793635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370771241	chr15:56793642-56793643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575969540	chr15:56793643-56793644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542044678	chr15:56793647-56793648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117545463	chr15:56793720-56793721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1715936	chr15:56793722-56793723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181399889	chr15:56793768-56793769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186160691	chr15:56793769-56793770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532720460	chr15:56793870-56793871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546722990	chr15:56793871-56793872	Weak 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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56789200-56792800	Weak transcription	Thymus	Thymus
2	chr15:56792200-56792800	Enhancers	Dnd41	blood
3	chr15:56792400-56792800	Weak transcription	Fetal Thymus	thymus
4	chr15:56792800-56793200	ZNF genes & repeats	Fetal Thymus	thymus
5	chr15:56792800-56793200	ZNF genes & repeats	Thymus	Thymus
6	chr15:56793200-56793400	Weak transcription	Fetal Thymus	thymus
7	chr15:56793200-56798000	Weak transcription	Thymus	Thymus
8	chr15:56798000-56798600	ZNF genes & repeats	Thymus	Thymus
9	chr15:56798400-56798600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:56799400-56799800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:56815200-56818000	Enhancers	HSMM	muscle
12	chr15:56815400-56816400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:56815600-56815800	Enhancers	Thymus	Thymus
14	chr15:56815600-56815800	Enhancers	HSMMtube	muscle
15	chr15:56815600-56817600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr15:56815800-56816400	Weak transcription	HSMMtube	muscle
17	chr15:56815800-56822000	Weak transcription	Thymus	Thymus
18	chr15:56816000-56816200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:56816200-56816800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:56816400-56816800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:56816400-56818000	Enhancers	HSMMtube	muscle
22	chr15:56816600-56817800	Enhancers	NHDF-Ad	bronchial
23	chr15:56816800-56817200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:56816800-56817400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:56817000-56817200	Enhancers	Aorta	Aorta
26	chr15:56817000-56817600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:56817000-56817600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:56817000-56817800	Enhancers	Fetal Muscle Leg	muscle
29	chr15:56817400-56818000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:56817600-56820000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:56817600-56820200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:56818000-56820200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:56818400-56818800	Enhancers	Dnd41	blood
34	chr15:56818800-56822000	Weak transcription	Dnd41	blood
35	chr15:56820000-56820800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr15:56820000-56820800	Enhancers	Ovary	ovary
37	chr15:56820000-56820800	Bivalent Enhancer	NHDF-Ad	bronchial
38	chr15:56820200-56820400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:56820200-56820400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:56820200-56820600	Bivalent Enhancer	Osteobl	bone
41	chr15:56820200-56820800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:56820200-56820800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:56820200-56820800	Enhancers	Stomach Smooth Muscle	stomach
44	chr15:56820400-56820600	Bivalent Enhancer	HUVEC	blood vessel
45	chr15:56820800-56824600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:56820800-56824600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr15:56822000-56824000	Enhancers	Dnd41	blood
48	chr15:56822000-56825000	Enhancers	Thymus	Thymus
49	chr15:56822000-56832200	Enhancers	Fetal Thymus	thymus
50	chr15:56822200-56822400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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