Variant report

Variant	nsv520382
Chromosome Location	chr16:81567554-81571725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81565757..81568380-chr16:81569280..81572909,4	K562	blood:
2	chr16:81569545..81572844-chr16:81574996..81578300,3	MCF-7	breast:
3	chr16:81568196..81570082-chr16:81573508..81576113,2	K562	blood:
4	chr16:81436854..81437821-chr16:81571462..81572130,2	MCF-7	breast:
5	chr16:81565757..81568380-chr16:81569280..81572909,4	K562	blood:
6	chr16:81560475..81564171-chr16:81564775..81571060,7	K562	blood:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7854-3p	chr16:81567547-81567567	MIMAT0030429

Extended variants
information (count: 199 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs2925980	chr16:81567554-81567555	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	miRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141742472	chr16:81567556-81567557	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	miRNA	n/a	Overlapped CNVs	n/a
3	rs563154314	chr16:81567567-81567568	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	miRNA	n/a	Overlapped CNVs	n/a
4	rs117804169	chr16:81567568-81567569	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545600141	chr16:81567636-81567637	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs549652926	chr16:81567646-81567647	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs571153778	chr16:81567660-81567661	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs538433185	chr16:81567664-81567665	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs371089370	chr16:81567683-81567684	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs112833435	chr16:81567691-81567692	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs13336426	chr16:81567692-81567693	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs528106721	chr16:81567729-81567730	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs151051281	chr16:81567743-81567744	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs140996049	chr16:81567773-81567774	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs574075157	chr16:81567858-81567859	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75753011	chr16:81567885-81567886	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs563154539	chr16:81567886-81567887	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs578233335	chr16:81567937-81567938	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs545583148	chr16:81568022-81568023	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560011064	chr16:81568023-81568024	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149358348	chr16:81568035-81568036	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368016228	chr16:81568039-81568040	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548708733	chr16:81568055-81568056	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13333159	chr16:81568064-81568065	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561613980	chr16:81568075-81568076	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79254407	chr16:81568125-81568126	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367782640	chr16:81568161-81568162	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138780091	chr16:81568164-81568165	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571175997	chr16:81568192-81568193	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538471644	chr16:81568202-81568203	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs66515043	chr16:81568249-81568250	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200291915	chr16:81568254-81568255	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201441786	chr16:81568255-81568256	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs398030020	chr16:81568259-81568260	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550356666	chr16:81568270-81568271	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547524736	chr16:81568275-81568276	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570278594	chr16:81568291-81568292	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372243173	chr16:81568349-81568350	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141741575	chr16:81568380-81568381	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534344824	chr16:81568410-81568411	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs539101750	chr16:81568431-81568432	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs186820907	chr16:81568493-81568494	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs191246720	chr16:81568554-81568555	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs552424896	chr16:81568620-81568621	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146244138	chr16:81568629-81568630	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111365887	chr16:81568631-81568632	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556912102	chr16:81568633-81568634	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578242614	chr16:81568646-81568647	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148417815	chr16:81568648-81568649	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2966110	chr16:81568655-81568656	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81547400-81571600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr16:81547800-81571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr16:81555400-81576800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr16:81555800-81572200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:81556000-81590000	Weak transcription	Dnd41	blood
6	chr16:81556200-81568000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:81556200-81577600	Weak transcription	GM12878-XiMat	blood
8	chr16:81556800-81571400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr16:81560200-81567800	Enhancers	Placenta	Placenta
10	chr16:81560600-81584800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr16:81560800-81571600	Weak transcription	Fetal Brain Male	brain
12	chr16:81560800-81571600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr16:81560800-81572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr16:81561000-81576400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr16:81561000-81576800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:81561400-81571600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr16:81561400-81571600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr16:81561400-81572600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:81561400-81575000	Weak transcription	HUVEC	blood vessel
20	chr16:81561400-81576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr16:81561400-81576600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr16:81561600-81571400	Weak transcription	Right Atrium	heart
23	chr16:81561600-81571600	Weak transcription	Fetal Lung	lung
24	chr16:81561600-81573000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:81561600-81576600	Weak transcription	Right Ventricle	heart
26	chr16:81561600-81577600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr16:81562000-81578000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:81562200-81569400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr16:81562400-81572800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr16:81562600-81571800	Weak transcription	Stomach Mucosa	stomach
31	chr16:81563200-81569400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr16:81563400-81569800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr16:81563600-81578000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr16:81563800-81572600	Weak transcription	Brain Germinal Matrix	brain
35	chr16:81564600-81568000	Enhancers	Fetal Intestine Large	intestine
36	chr16:81564600-81568000	Enhancers	NHDF-Ad	bronchial
37	chr16:81564600-81570000	Enhancers	Liver	Liver
38	chr16:81564800-81572200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr16:81564800-81572600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr16:81565000-81567800	Enhancers	Pancreas	Pancrea
41	chr16:81565000-81572600	Weak transcription	Brain Anterior Caudate	brain
42	chr16:81565200-81567600	Strong transcription	Primary T cells from cord blood	blood
43	chr16:81565200-81571600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr16:81565200-81572600	Weak transcription	Brain Angular Gyrus	brain
45	chr16:81565200-81576400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr16:81565200-81588200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr16:81565400-81567600	Weak transcription	NH-A	brain
48	chr16:81565400-81571400	Weak transcription	Fetal Muscle Leg	muscle
49	chr16:81565400-81571600	Weak transcription	Left Ventricle	heart
50	chr16:81565400-81571600	Weak transcription	K562	blood

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