Variant report

Variant	nsv573335
Chromosome Location	chr16:80980644-80983247
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80958139..80959069-chr16:80982496..80983022,2	MCF-7	breast:
2	chr16:80560979..80561850-chr16:80982503..80983251,4	MCF-7	breast:
3	chr16:80957926..80959047-chr16:80982446..80983244,3	MCF-7	breast:
4	chr16:80574553..80575421-chr16:80982567..80983067,2	MCF-7	breast:
5	chr16:80958108..80959131-chr16:80982466..80983464,4	K562	blood:
6	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
7	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
8	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
9	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259867	chromatin interactions
ENSG00000168589	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34418099	chr16:80980644-80980645	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373359362	chr16:80980650-80980651	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs548405223	chr16:80980652-80980653	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs34297317	chr16:80980693-80980694	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537366428	chr16:80980734-80980735	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs35031628	chr16:80980761-80980762	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552414739	chr16:80980771-80980772	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs570431838	chr16:80980780-80980781	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs531218701	chr16:80980781-80980782	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534367680	chr16:80980786-80980787	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs552924608	chr16:80980810-80980811	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs573105710	chr16:80980819-80980820	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568097374	chr16:80980892-80980893	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs535519272	chr16:80980958-80980959	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs12448615	chr16:80981029-80981030	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs558524558	chr16:80981127-80981128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs137884190	chr16:80981184-80981185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375988354	chr16:80981208-80981209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183119616	chr16:80981210-80981211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34553551	chr16:80981222-80981223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573087476	chr16:80981240-80981241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541103449	chr16:80981241-80981242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142400066	chr16:80981275-80981276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187091396	chr16:80981277-80981278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530159793	chr16:80981284-80981285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146149792	chr16:80981298-80981299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547035668	chr16:80981341-80981342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28448885	chr16:80981423-80981424	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189977214	chr16:80981435-80981436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530345816	chr16:80981468-80981469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182235164	chr16:80981479-80981480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139033145	chr16:80981481-80981482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149397074	chr16:80981502-80981503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546305501	chr16:80981510-80981511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540837426	chr16:80981511-80981512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527512992	chr16:80981525-80981526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377124570	chr16:80981533-80981534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115061744	chr16:80981538-80981539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111918175	chr16:80981541-80981542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28688505	chr16:80981548-80981549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs555338121	chr16:80981658-80981659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs8062425	chr16:80981676-80981677	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs557922218	chr16:80981679-80981680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573085748	chr16:80981692-80981693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11150330	chr16:80981776-80981777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538105958	chr16:80981793-80981794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546676217	chr16:80981806-80981807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557772813	chr16:80981831-80981832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574453914	chr16:80981860-80981861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531597676	chr16:80981910-80981911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80972800-80982600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:80974800-80986600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr16:80980200-80981000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:80980600-80981000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:80980600-80982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr16:80981000-80981200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:80981000-80981800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:80981200-80982800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:80981200-80983000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:80981200-80983400	Enhancers	Hela-S3	cervix
11	chr16:80981400-80981800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr16:80981400-80981800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:80981400-80982400	Enhancers	Brain Cingulate Gyrus	brain
14	chr16:80981400-80982400	Enhancers	Brain Hippocampus Middle	brain
15	chr16:80981400-80983000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:80981600-80982400	Enhancers	Brain Angular Gyrus	brain
17	chr16:80981600-80983000	Enhancers	Esophagus	oesophagus
18	chr16:80981600-80983200	Enhancers	Brain Anterior Caudate	brain
19	chr16:80981600-80983200	Enhancers	Brain Substantia Nigra	brain
20	chr16:80981800-80982800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:80981800-80982800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr16:80981800-80984600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr16:80982000-80982600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:80982000-80983200	Enhancers	HUVEC	blood vessel
25	chr16:80982200-80982400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr16:80982200-80983000	Enhancers	Stomach Mucosa	stomach
27	chr16:80982400-80982800	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr16:80982400-80982800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr16:80982400-80982800	Enhancers	Right Ventricle	heart
30	chr16:80982400-80983000	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr16:80982400-80983200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr16:80982400-80983200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr16:80982400-80983200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr16:80982400-80983200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr16:80982600-80982800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:80982600-80983200	Enhancers	Gastric	stomach
37	chr16:80982600-80983200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr16:80982600-80983200	Enhancers	NHEK	skin
39	chr16:80982600-80983600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:80982800-80983000	Enhancers	Brain Cingulate Gyrus	brain
41	chr16:80982800-80983200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:80982800-80983200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr16:80982800-80983200	Enhancers	Psoas Muscle	Psoas
44	chr16:80983000-80983200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr16:80983000-80983200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr16:80983000-80983200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr16:80983000-80983200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr16:80983000-80983200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr16:80983000-80983200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:80983000-80983200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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