Variant report

Variant	nsv569311
Chromosome Location	chr15:45321049-45323264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45313440..45317462-chr15:45317525..45323259,9	K562	blood:

Variant related genes	Relation type
ENSG00000140263	chromatin interactions

Extended variants
information (count: 151 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs270820	chr15:45321049-45321050	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs66525603	chr15:45321085-45321086	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145954430	chr15:45321108-45321109	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs68060743	chr15:45321109-45321110	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs6493131	chr15:45321129-45321130	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs386783583	chr15:45321182-45321183	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs74011311	chr15:45321183-45321184	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552140163	chr15:45321184-45321185	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139466730	chr15:45321188-45321189	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76618224	chr15:45321199-45321200	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78939877	chr15:45321202-45321203	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187799611	chr15:45321207-45321208	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs72722064	chr15:45321261-45321262	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs386783584	chr15:45321293-45321294	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200973476	chr15:45321295-45321296	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs202100278	chr15:45321299-45321300	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115432263	chr15:45321321-45321322	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113576813	chr15:45321330-45321331	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78290886	chr15:45321336-45321337	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74011313	chr15:45321346-45321347	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573284267	chr15:45321368-45321369	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545117701	chr15:45321377-45321378	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs71480271	chr15:45321380-45321381	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs78281912	chr15:45321384-45321385	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs76440595	chr15:45321391-45321392	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73421327	chr15:45321443-45321444	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2468069	chr15:45321456-45321457	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs55965205	chr15:45321462-45321463	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75061825	chr15:45321478-45321479	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78898520	chr15:45321481-45321482	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111918493	chr15:45321504-45321505	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs76923230	chr15:45321507-45321508	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs149653619	chr15:45321508-45321509	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74011315	chr15:45321516-45321517	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192475958	chr15:45321517-45321518	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73421328	chr15:45321550-45321551	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs386783585	chr15:45321566-45321567	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs552312359	chr15:45321576-45321577	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs36166356	chr15:45321577-45321578	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs74011317	chr15:45321591-45321592	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs8043226	chr15:45321593-45321594	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563535135	chr15:45321603-45321604	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566487575	chr15:45321611-45321612	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74936829	chr15:45321628-45321629	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376734330	chr15:45321629-45321630	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531978082	chr15:45321634-45321635	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147000119	chr15:45321642-45321643	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140522903	chr15:45321643-45321644	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs367767401	chr15:45321644-45321645	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs80303392	chr15:45321759-45321760	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45316000-45321600	Weak transcription	Aorta	Aorta
2	chr15:45316200-45326200	Weak transcription	Psoas Muscle	Psoas
3	chr15:45316200-45340600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:45316400-45321400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:45316400-45321400	Weak transcription	Primary T cells from cord blood	blood
6	chr15:45316400-45321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:45316400-45321600	Weak transcription	Right Atrium	heart
8	chr15:45316400-45321800	Weak transcription	Ovary	ovary
9	chr15:45316400-45323400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:45316400-45327600	Weak transcription	Primary B cells from cord blood	blood
11	chr15:45316400-45329400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr15:45316400-45333000	Weak transcription	Lung	lung
13	chr15:45316400-45341200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr15:45316400-45342200	Weak transcription	HSMMtube	muscle
15	chr15:45316400-45342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:45316600-45321200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:45316600-45321400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr15:45316600-45321400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:45316600-45321400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:45316600-45321400	Weak transcription	Fetal Intestine Small	intestine
21	chr15:45316600-45321400	Weak transcription	Fetal Stomach	stomach
22	chr15:45316600-45321800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr15:45316600-45322200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:45316600-45322800	Weak transcription	Colonic Mucosa	Colon
25	chr15:45316600-45323000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr15:45316600-45323000	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:45316600-45324800	Weak transcription	Spleen	Spleen
28	chr15:45316600-45325400	Weak transcription	NHDF-Ad	bronchial
29	chr15:45316600-45326000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:45316600-45327000	Weak transcription	Esophagus	oesophagus
31	chr15:45316600-45328800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr15:45316600-45328800	Weak transcription	Pancreas	Pancrea
33	chr15:45316600-45329000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:45316600-45329000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:45316600-45329000	Weak transcription	Osteobl	bone
36	chr15:45316600-45329200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:45316600-45329200	Weak transcription	NHLF	lung
38	chr15:45316600-45329400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr15:45316600-45329600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr15:45316600-45339200	Weak transcription	Fetal Lung	lung
41	chr15:45316600-45340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:45316600-45340600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:45316600-45340600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr15:45316600-45344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr15:45316600-45351000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:45316600-45356600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:45316600-45366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr15:45316800-45321400	Weak transcription	NHEK	skin
49	chr15:45316800-45337600	Weak transcription	GM12878-XiMat	blood
50	chr15:45316800-45340600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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