Variant report

Variant	nsv437808
Chromosome Location	chr16:77702640-77713142
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:77633681..77634587-chr16:77709347..77710202,4	MCF-7	breast:
2	chr16:77710646..77713010-chr16:77714035..77716849,2	MCF-7	breast:
3	chr16:77707515..77710290-chr16:78035283..78037188,2	MCF-7	breast:
4	chr16:77708998..77710554-chr16:78006031..78007938,2	MCF-7	breast:
5	chr16:77709824..77710381-chr16:77816642..77817263,2	MCF-7	breast:
6	chr16:77708676..77709388-chr16:78085931..78086472,2	MCF-7	breast:
7	chr16:77707478..77709484-chr16:78004260..78007156,2	MCF-7	breast:
8	chr16:77636182..77638707-chr16:77703957..77706105,3	MCF-7	breast:
9	chr16:77628723..77630849-chr16:77707512..77709974,2	MCF-7	breast:
10	chr16:77707176..77709949-chr16:78090920..78093032,2	MCF-7	breast:
11	chr16:77707399..77712179-chr16:78083151..78087877,5	MCF-7	breast:
12	chr16:77708555..77710805-chr16:77970493..77973993,3	MCF-7	breast:
13	chr16:77709041..77711322-chr16:77756531..77758991,2	K562	blood:
14	chr16:77709349..77710379-chr16:78005092..78005820,3	MCF-7	breast:
15	chr16:77709917..77712656-chr16:77945656..77948125,2	MCF-7	breast:
16	chr16:77711472..77713036-chr16:78019755..78022366,2	MCF-7	breast:
17	chr16:77708386..77711896-chr16:77815024..77817319,3	MCF-7	breast:
18	chr16:77709752..77710318-chr16:78036565..78037487,3	K562	blood:
19	chr16:77710850..77711709-chr16:77816294..77817052,2	MCF-7	breast:
20	chr16:77635928..77639763-chr16:77707464..77711243,6	MCF-7	breast:
21	chr16:77709305..77710355-chr16:78127624..78128543,4	MCF-7	breast:
22	chr16:77709351..77710446-chr16:78036541..78037454,5	MCF-7	breast:
23	chr16:77709303..77710297-chr16:78004548..78005999,11	MCF-7	breast:
24	chr16:77707917..77711206-chr16:78034514..78038420,5	MCF-7	breast:
25	chr16:77709343..77710329-chr16:78036510..78037510,6	MCF-7	breast:
26	chr16:77709330..77710630-chr16:78005145..78006052,11	K562	blood:
27	chr16:77709638..77710349-chr16:77946426..77947079,2	MCF-7	breast:
28	chr16:77709541..77710298-chr16:77985370..77986287,4	MCF-7	breast:
29	chr16:77709594..77710119-chr16:78004193..78005069,2	K562	blood:
30	chr16:77710538..77711519-chr16:78005392..78006389,3	MCF-7	breast:
31	chr16:77637560..77638380-chr16:77708753..77709733,3	MCF-7	breast:
32	chr16:77709433..77710313-chr16:77816745..77817277,2	MCF-7	breast:
33	chr16:77636418..77639200-chr16:77708861..77710434,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260731	chromatin interactions

Extended variants
information (count: 302 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1111278	chr16:77702640-77702641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377630795	chr16:77702693-77702694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529491298	chr16:77702733-77702734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549144087	chr16:77702736-77702737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563697469	chr16:77702789-77702790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11150009	chr16:77702804-77702805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs77941372	chr16:77702839-77702840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141415012	chr16:77702851-77702852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536911368	chr16:77702877-77702878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386792381	chr16:77702878-77702879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145133316	chr16:77702879-77702880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542405799	chr16:77702896-77702897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138943662	chr16:77702915-77702916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186121401	chr16:77702965-77702966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541439876	chr16:77702982-77702983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370785752	chr16:77702986-77702987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564292027	chr16:77703014-77703015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72788876	chr16:77703022-77703023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548679109	chr16:77703056-77703057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376678260	chr16:77703061-77703062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544157690	chr16:77703064-77703065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535857626	chr16:77703065-77703066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563966289	chr16:77703097-77703098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563449888	chr16:77703101-77703102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149492870	chr16:77703107-77703108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79631614	chr16:77703111-77703112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367978118	chr16:77703183-77703184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76667198	chr16:77703199-77703200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551372439	chr16:77703201-77703202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529067819	chr16:77703226-77703227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571188431	chr16:77703229-77703230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536627891	chr16:77703289-77703290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148208023	chr16:77703303-77703304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567183504	chr16:77703337-77703338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536040734	chr16:77703358-77703359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141155940	chr16:77703374-77703375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564760969	chr16:77707434-77707435	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs533577154	chr16:77707474-77707475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34349360	chr16:77707481-77707482	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550352651	chr16:77707483-77707484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201986822	chr16:77707515-77707516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs11860496	chr16:77707519-77707520	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528950027	chr16:77707525-77707526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549044888	chr16:77707528-77707529	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs17773019	chr16:77707575-77707576	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs534607919	chr16:77707588-77707589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200522675	chr16:77707589-77707590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs551301396	chr16:77707600-77707601	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs571167606	chr16:77707619-77707620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76027895	chr16:77707643-77707644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Ovarian clear cell carcinoma	21343371	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77700400-77703400	Enhancers	Fetal Stomach	stomach
2	chr16:77700600-77702800	Enhancers	Fetal Lung	lung
3	chr16:77701200-77703200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:77708200-77708400	Enhancers	Placenta	Placenta
5	chr16:77708400-77709400	Weak transcription	Placenta	Placenta
6	chr16:77708600-77708800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:77708600-77709200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:77708600-77709200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:77708600-77709800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:77708800-77709200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:77708800-77709200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:77708800-77709200	Bivalent Enhancer	Fetal Lung	lung
13	chr16:77708800-77709800	Enhancers	NH-A	brain
14	chr16:77709000-77709400	Enhancers	NHLF	lung
15	chr16:77709000-77709600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:77709200-77709600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:77709200-77709600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:77709200-77709800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:77709200-77709800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:77709200-77709800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:77709200-77709800	Enhancers	Fetal Stomach	stomach
22	chr16:77709200-77710000	Enhancers	Fetal Lung	lung
23	chr16:77709400-77710200	Enhancers	Placenta	Placenta
24	chr16:77709600-77709800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:77709600-77709800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:77709600-77709800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:77709600-77709800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr16:77709600-77709800	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr16:77709600-77710000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr16:77709600-77710000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr16:77709600-77710000	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr16:77709600-77710200	Enhancers	Brain Anterior Caudate	brain
33	chr16:77709800-77710000	Enhancers	Adipose Nuclei	Adipose
34	chr16:77709800-77710000	Flanking Active TSS	Liver	Liver
35	chr16:77709800-77710000	Enhancers	Brain Angular Gyrus	brain
36	chr16:77709800-77711000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr16:77709800-77711000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:77709800-77711000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr16:77709800-77716600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:77710000-77710800	Weak transcription	Fetal Lung	lung
41	chr16:77710000-77711000	Weak transcription	Liver	Liver
42	chr16:77710000-77714600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:77710000-77717400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr16:77710200-77710600	Weak transcription	Placenta	Placenta
45	chr16:77710600-77711600	Enhancers	Placenta	Placenta
46	chr16:77710600-77712600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:77710800-77711200	Enhancers	Fetal Lung	lung
48	chr16:77711000-77711800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr16:77711000-77712000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr16:77711000-77713000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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