Variant report

Variant	nsv457557
Chromosome Location	chr16:80405292-80463399
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80427816..80429853-chr16:80431372..80434203,2	K562	blood:
2	chr16:80422507..80424954-chr16:80425811..80427475,2	K562	blood:
3	chr16:80456261..80457828-chr16:80462045..80464017,2	K562	blood:
4	chr16:80455099..80456969-chr16:80460045..80462962,2	MCF-7	breast:
5	chr16:80400278..80401795-chr16:80405835..80408436,2	MCF-7	breast:
6	chr16:80453914..80455778-chr16:80465927..80468447,2	MCF-7	breast:
7	chr16:80422507..80424954-chr16:80425811..80427475,2	K562	blood:
8	chr16:80427816..80429853-chr16:80431372..80434203,2	K562	blood:
9	chr16:80456261..80457828-chr16:80462045..80464017,2	K562	blood:
10	chr16:80455099..80456969-chr16:80460045..80462962,2	MCF-7	breast:
11	chr16:80443585..80445085-chr3:63915478..63917736,2	MCF-7	breast:

No data

Extended variants
information (count: 2929 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2929 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2881978	chr16:80405292-80405293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536111986	chr16:80405293-80405294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548103302	chr16:80405329-80405330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537683485	chr16:80405339-80405340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557940207	chr16:80405340-80405341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12920353	chr16:80405343-80405344	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371816560	chr16:80405356-80405357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536889171	chr16:80405383-80405384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369699515	chr16:80405400-80405401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148107971	chr16:80405411-80405412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375106578	chr16:80405413-80405414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs59185146	chr16:80405415-80405416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373097751	chr16:80405430-80405431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555060349	chr16:80405431-80405432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78906260	chr16:80405459-80405460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534726826	chr16:80405476-80405477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552661600	chr16:80405479-80405480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141589542	chr16:80405490-80405491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542519873	chr16:80405499-80405500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564006823	chr16:80405529-80405530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554076765	chr16:80405535-80405536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183446614	chr16:80405536-80405537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564710767	chr16:80405538-80405539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528542212	chr16:80405595-80405596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547090942	chr16:80405598-80405599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561911450	chr16:80405611-80405612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs118153198	chr16:80405620-80405621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370930743	chr16:80405629-80405630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548068530	chr16:80405659-80405660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187683678	chr16:80405748-80405749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192240445	chr16:80405774-80405775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs67681541	chr16:80405783-80405784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570642753	chr16:80405801-80405802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534393167	chr16:80405812-80405813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553061207	chr16:80405817-80405818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568047939	chr16:80405869-80405870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535489168	chr16:80405897-80405898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184224934	chr16:80405919-80405920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4592676	chr16:80405964-80405965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575969272	chr16:80406005-80406006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73584810	chr16:80406034-80406035	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558038521	chr16:80406090-80406091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539572651	chr16:80406094-80406095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201184841	chr16:80406106-80406107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189677428	chr16:80406109-80406110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540354256	chr16:80406118-80406119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561885320	chr16:80406137-80406138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529250071	chr16:80406152-80406153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544154401	chr16:80406156-80406157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116692736	chr16:80406163-80406164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80401000-80405400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:80401000-80409600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:80404200-80405800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:80405400-80406000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:80405800-80406000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr16:80406000-80406600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:80406800-80407200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:80409400-80410200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:80409400-80411200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:80409600-80410000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr16:80409600-80411200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:80409600-80412000	Enhancers	Ovary	ovary
13	chr16:80409800-80412000	Enhancers	Fetal Stomach	stomach
14	chr16:80410400-80411200	Enhancers	Fetal Muscle Trunk	muscle
15	chr16:80410800-80411400	Enhancers	Fetal Muscle Leg	muscle
16	chr16:80411000-80412200	Enhancers	Adipose Nuclei	Adipose
17	chr16:80411200-80411600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:80411400-80412000	Weak transcription	Fetal Muscle Leg	muscle
19	chr16:80411600-80412200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:80411600-80412800	Enhancers	Fetal Kidney	kidney
21	chr16:80412000-80412200	Enhancers	Fetal Muscle Leg	muscle
22	chr16:80412000-80414400	Weak transcription	Fetal Stomach	stomach
23	chr16:80413200-80413400	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr16:80414200-80414600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr16:80414400-80414600	Enhancers	Fetal Stomach	stomach
26	chr16:80414400-80414800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr16:80420000-80420600	Enhancers	Fetal Brain Female	brain
28	chr16:80420600-80421000	Weak transcription	Fetal Brain Female	brain
29	chr16:80420800-80421400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:80420800-80421400	Enhancers	Fetal Muscle Leg	muscle
31	chr16:80420800-80421600	Bivalent Enhancer	Fetal Brain Male	brain
32	chr16:80421000-80421200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr16:80421000-80421200	Bivalent Enhancer	Brain Germinal Matrix	brain
34	chr16:80421000-80421600	Enhancers	Fetal Brain Female	brain
35	chr16:80421000-80421800	Enhancers	Fetal Kidney	kidney
36	chr16:80421200-80421400	Enhancers	Fetal Muscle Trunk	muscle
37	chr16:80421200-80421600	Strong transcription	Right Atrium	heart
38	chr16:80421200-80421800	Enhancers	Fetal Lung	lung
39	chr16:80421200-80422000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:80421200-80422000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:80421200-80422000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr16:80421200-80422000	Bivalent Enhancer	Fetal Stomach	stomach
43	chr16:80421200-80423800	Enhancers	Ovary	ovary
44	chr16:80421200-80425000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:80421200-80425800	Enhancers	Brain Germinal Matrix	brain
46	chr16:80421400-80422000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr16:80421400-80425400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:80421600-80421800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr16:80421600-80424800	Weak transcription	Right Atrium	heart
50	chr16:80421800-80424200	Weak transcription	Fetal Lung	lung

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