Variant report

Variant	nsv974823
Chromosome Location	chr16:64943759-64945594
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	chr16:64924355..64925885-chr16:64941541..64944265,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182649853	chr16:64943791-64943792	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs187068675	chr16:64943819-64943820	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144497680	chr16:64943823-64943824	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191970267	chr16:64943825-64943826	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184342527	chr16:64943828-64943829	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs555607165	chr16:64943832-64943833	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs143827435	chr16:64943916-64943917	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs77305746	chr16:64943918-64943919	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs575380665	chr16:64943950-64943951	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs187568839	chr16:64943959-64943960	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs536357645	chr16:64944018-64944019	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs147252257	chr16:64944080-64944081	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556992901	chr16:64944098-64944099	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs576925386	chr16:64944135-64944136	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140593963	chr16:64944177-64944178	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559525716	chr16:64944202-64944203	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs7184193	chr16:64944224-64944225	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7185675	chr16:64944255-64944256	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562426182	chr16:64944262-64944263	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs538671153	chr16:64944319-64944320	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs551206046	chr16:64944320-64944321	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs36104803	chr16:64944331-64944332	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533108473	chr16:64944336-64944337	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs71376744	chr16:64944373-64944374	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs35215048	chr16:64944374-64944375	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs386384925	chr16:64944376-64944377	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs71143529	chr16:64944377-64944378	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546567567	chr16:64944390-64944391	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs566380850	chr16:64944400-64944401	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs540819457	chr16:64944538-64944539	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs535720434	chr16:64944547-64944548	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs193141608	chr16:64944577-64944578	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs568829465	chr16:64944590-64944591	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs184469629	chr16:64944594-64944595	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs1864147	chr16:64944613-64944614	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs377754891	chr16:64944671-64944672	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576915461	chr16:64944679-64944680	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs144532412	chr16:64944812-64944813	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529509364	chr16:64944823-64944824	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573126838	chr16:64944906-64944907	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574801984	chr16:64944911-64944912	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs76077515	chr16:64944921-64944922	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs189288491	chr16:64944941-64944942	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs6498964	chr16:64944972-64944973	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs544817937	chr16:64945001-64945002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532359785	chr16:64945014-64945015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564711611	chr16:64945028-64945029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552196050	chr16:64945064-64945065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559619335	chr16:64945128-64945129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533046071	chr16:64945140-64945141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	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
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	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
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64931200-64943800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:64935000-64943800	Weak transcription	Fetal Lung	lung
3	chr16:64941800-64944000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:64942200-64943800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:64942600-64943800	Weak transcription	Left Ventricle	heart
6	chr16:64942600-64943800	Weak transcription	NH-A	brain
7	chr16:64942800-64943800	Weak transcription	Fetal Stomach	stomach
8	chr16:64943200-64944800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:64943400-64944800	Enhancers	Ovary	ovary
10	chr16:64943600-64944000	Enhancers	Osteobl	bone
11	chr16:64943600-64944600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr16:64943800-64944000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr16:64943800-64944000	Enhancers	Left Ventricle	heart
14	chr16:64943800-64944200	Active TSS	Fetal Stomach	stomach
15	chr16:64943800-64944400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr16:64943800-64944600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:64943800-64944600	Enhancers	Fetal Muscle Leg	muscle
18	chr16:64943800-64944600	Enhancers	NH-A	brain
19	chr16:64943800-64944800	Enhancers	NHDF-Ad	bronchial
20	chr16:64943800-64945000	Enhancers	Fetal Lung	lung
21	chr16:64943800-64945000	Enhancers	HSMMtube	muscle
22	chr16:64944000-64944200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:64944000-64944200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:64944000-64944400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr16:64944000-64944400	Enhancers	Aorta	Aorta
26	chr16:64944000-64944400	Enhancers	HSMM	muscle
27	chr16:64944000-64944400	Flanking Active TSS	Osteobl	bone
28	chr16:64944000-64944600	Enhancers	Adipose Nuclei	Adipose
29	chr16:64944000-64944800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr16:64944000-64944800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:64944000-64944800	Enhancers	NHLF	lung
32	chr16:64944000-64945000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:64944200-64944400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr16:64944200-64944600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:64944200-64944600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr16:64944200-64944600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr16:64944200-64944800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr16:64944200-64944800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr16:64944200-64944800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:64944200-64944800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:64944200-64944800	Enhancers	Fetal Stomach	stomach
42	chr16:64944200-64944800	Enhancers	Stomach Smooth Muscle	stomach
43	chr16:64944200-64945000	Enhancers	Fetal Brain Male	brain
44	chr16:64944400-64944600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:64944400-64944600	Enhancers	Fetal Muscle Trunk	muscle
46	chr16:64944400-64944800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr16:64944400-64945000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:64944400-64945200	Enhancers	Osteobl	bone
49	chr16:64944600-64944800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:64944600-64944800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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