Variant report

Variant	nsv984501
Chromosome Location	chr16:64919797-64993897
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:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:64953973..64956633-chr16:64957182..64958781,2	K562	blood:
2	chr16:64924355..64925885-chr16:64941541..64944265,2	K562	blood:
3	chr16:64924355..64925885-chr16:64941541..64944265,2	K562	blood:
4	chr16:64967316..64969634-chr16:64999143..65001361,2	K562	blood:
5	chr16:64953973..64956633-chr16:64957182..64958781,2	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CDH11	hsa-miR-335-5p	chr16:64980986-64981008
2	CDH11	hsa-miR-335-5p	chr16:64980991-64980985

Extended variants
information (count: 2418 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2418 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529212064	chr16:64919869-64919870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551402488	chr16:64919906-64919907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548873653	chr16:64919963-64919964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562710472	chr16:64920089-64920090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530863596	chr16:64920131-64920132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139479679	chr16:64920140-64920141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs28600258	chr16:64920186-64920187	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs34184008	chr16:64920189-64920190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs59140084	chr16:64920254-64920255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549439728	chr16:64920273-64920274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559855894	chr16:64920287-64920288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567024926	chr16:64920411-64920412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116693610	chr16:64920413-64920414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555633868	chr16:64920418-64920419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371416083	chr16:64920447-64920448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10500504	chr16:64920476-64920477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs557922786	chr16:64920521-64920522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147959500	chr16:64920540-64920541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368156327	chr16:64920551-64920552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369032247	chr16:64920587-64920588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540208399	chr16:64920603-64920604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560112174	chr16:64920613-64920614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573811325	chr16:64920618-64920619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542907864	chr16:64920641-64920642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371769252	chr16:64920671-64920672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1560192	chr16:64920770-64920771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544283008	chr16:64920784-64920785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577968250	chr16:64920792-64920793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527491903	chr16:64920794-64920795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191423491	chr16:64920812-64920813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369609721	chr16:64920855-64920856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183255728	chr16:64920868-64920869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75944905	chr16:64920878-64920879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76066316	chr16:64920903-64920904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529558341	chr16:64920906-64920907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549693204	chr16:64920933-64920934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569459735	chr16:64920942-64920943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538471347	chr16:64921070-64921071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4417570	chr16:64921085-64921086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186252198	chr16:64921121-64921122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36108997	chr16:64921122-64921123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191019206	chr16:64921150-64921151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539294073	chr16:64921168-64921169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558804673	chr16:64921184-64921185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145554736	chr16:64921286-64921287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75783724	chr16:64921296-64921297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367753601	chr16:64921312-64921313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573625198	chr16:64921375-64921376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542546476	chr16:64921385-64921386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556070797	chr16:64921436-64921437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64900800-64934400	Weak transcription	Fetal Brain Male	brain
2	chr16:64917000-64921200	Weak transcription	Fetal Lung	lung
3	chr16:64919400-64920600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:64919600-64919800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:64919800-64923200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:64920600-64925800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:64921200-64922000	Enhancers	Fetal Lung	lung
8	chr16:64921800-64922000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr16:64922000-64926600	Weak transcription	Fetal Lung	lung
10	chr16:64922600-64923800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr16:64923200-64923600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr16:64923200-64924000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr16:64923200-64924200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr16:64923600-64924200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr16:64925000-64927000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:64925200-64925400	Enhancers	HSMMtube	muscle
17	chr16:64925200-64926600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:64925200-64927000	Enhancers	Osteobl	bone
19	chr16:64925200-64927200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:64925200-64927800	Enhancers	NH-A	brain
21	chr16:64925400-64927000	Weak transcription	HSMMtube	muscle
22	chr16:64925800-64926400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:64925800-64927000	Enhancers	NHDF-Ad	bronchial
24	chr16:64926000-64926200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:64926000-64927200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:64926000-64927200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr16:64926200-64927200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:64926200-64927200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr16:64926400-64927400	Enhancers	NHLF	lung
30	chr16:64926400-64927600	Enhancers	HSMM	muscle
31	chr16:64926400-64927800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr16:64926400-64931200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr16:64926600-64926800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr16:64926600-64927200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr16:64926600-64927600	Enhancers	Fetal Lung	lung
36	chr16:64926800-64927000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:64926800-64927600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:64926800-64927800	Enhancers	Fetal Kidney	kidney
39	chr16:64927000-64927200	Enhancers	Brain Substantia Nigra	brain
40	chr16:64927000-64927200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr16:64927000-64927600	Enhancers	Adipose Nuclei	Adipose
42	chr16:64927000-64927600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr16:64927000-64927600	Flanking Active TSS	Osteobl	bone
44	chr16:64927000-64927800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:64927000-64927800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:64927000-64927800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr16:64927000-64927800	Flanking Active TSS	NHDF-Ad	bronchial
48	chr16:64927000-64928600	Enhancers	HSMMtube	muscle
49	chr16:64927200-64927600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:64927200-64927600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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