Variant report

Variant	nsv1062989
Chromosome Location	chr16:83138449-83271119
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:83162873..83165569-chr16:83180869..83183939,3	K562	blood:
2	chr16:83147849..83150197-chr16:83152325..83154955,2	MCF-7	breast:
3	chr16:83238392..83240395-chr16:83243679..83246197,2	K562	blood:
4	chr16:83146835..83147818-chr16:83912265..83913241,2	MCF-7	breast:
5	chr16:83146621..83147770-chr16:83389405..83390519,10	MCF-7	breast:
6	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
7	chr16:83238392..83240395-chr16:83243679..83246197,2	K562	blood:
8	chr16:83147849..83150197-chr16:83152325..83154955,2	MCF-7	breast:
9	chr16:83233448..83234209-chr16:83474831..83475337,2	MCF-7	breast:
10	chr16:83146678..83147221-chr16:83920402..83921328,2	MCF-7	breast:
11	chr16:83259024..83260807-chr16:83268178..83271080,2	MCF-7	breast:
12	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
13	chr16:83233439..83234189-chr16:83480103..83481067,2	MCF-7	breast:
14	chr16:83146850..83147610-chr16:83479581..83481030,3	MCF-7	breast:
15	chr16:83259024..83260807-chr16:83268178..83271080,2	MCF-7	breast:
16	chr16:83146492..83147577-chr16:83389444..83390399,3	MCF-7	breast:
17	chr16:83162873..83165569-chr16:83180869..83183939,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSBP1-7	chr16:83254435-83258166	ucscGeneNc_uc002fih_2

No data

Extended variants
information (count: 8356 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:8356 , 50 per page) page: 1 2 3 4 5 6 7 ... 168

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559328102	chr16:83138481-83138482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187931124	chr16:83138487-83138488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554426256	chr16:83138490-83138491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192546622	chr16:83138492-83138493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78585338	chr16:83138528-83138529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184272521	chr16:83138540-83138541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs118052830	chr16:83138557-83138558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533677367	chr16:83138577-83138578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189267260	chr16:83138578-83138579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565701860	chr16:83138603-83138604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs67972857	chr16:83138634-83138635	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs79569167	chr16:83138635-83138636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs68049718	chr16:83138643-83138644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138071307	chr16:83138689-83138690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556885974	chr16:83138690-83138691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576921866	chr16:83138703-83138704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545711332	chr16:83138721-83138722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552811813	chr16:83138739-83138740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111571829	chr16:83138744-83138745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181161510	chr16:83138779-83138780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184917664	chr16:83138784-83138785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113688839	chr16:83138788-83138789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9928314	chr16:83138790-83138791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs190159770	chr16:83138807-83138808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143149535	chr16:83138816-83138817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9927709	chr16:83138817-83138818	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533538910	chr16:83138822-83138823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568267619	chr16:83138829-83138830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12929782	chr16:83138833-83138834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs78448837	chr16:83138871-83138872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148243367	chr16:83138898-83138899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547916622	chr16:83138901-83138902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117153366	chr16:83138919-83138920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536748306	chr16:83138941-83138942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556987923	chr16:83138977-83138978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532214769	chr16:83138978-83138979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570325516	chr16:83138979-83138980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547415418	chr16:83139003-83139004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539278900	chr16:83139007-83139008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142776247	chr16:83139019-83139020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147365718	chr16:83139047-83139048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181757699	chr16:83139072-83139073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535732843	chr16:83139075-83139076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186413865	chr16:83139076-83139077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557745014	chr16:83139083-83139084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201292050	chr16:83139086-83139087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575548602	chr16:83139089-83139090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544402013	chr16:83139097-83139098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564570617	chr16:83139100-83139101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111721205	chr16:83139110-83139111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Adrenocortical carcinoma	18281524	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Urothelial carcinoma	21177765	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:798 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83129800-83145000	Weak transcription	Psoas Muscle	Psoas
2	chr16:83130400-83139400	Weak transcription	HSMM	muscle
3	chr16:83133400-83143200	Weak transcription	HSMMtube	muscle
4	chr16:83133600-83149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:83134600-83151800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr16:83136000-83147000	Weak transcription	Aorta	Aorta
7	chr16:83136200-83147200	Weak transcription	Left Ventricle	heart
8	chr16:83136400-83138600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:83136400-83138600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:83136400-83138600	Weak transcription	HMEC	breast
11	chr16:83136400-83157600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:83138000-83154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:83138400-83139600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:83138400-83140200	Enhancers	NHEK	skin
15	chr16:83138600-83139800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:83138600-83140000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:83138600-83140000	Enhancers	HMEC	breast
18	chr16:83139400-83140000	Strong transcription	HSMM	muscle
19	chr16:83139600-83150000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:83139800-83142000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:83140000-83143800	Weak transcription	HSMM	muscle
22	chr16:83140000-83153000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:83140000-83158400	Weak transcription	HMEC	breast
24	chr16:83140200-83158400	Weak transcription	NHEK	skin
25	chr16:83142000-83142200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:83142000-83142400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:83142200-83149600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:83142400-83143200	Enhancers	NHDF-Ad	bronchial
29	chr16:83142400-83153400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:83143000-83143200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:83143200-83143400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:83143200-83143600	Flanking Active TSS	NHDF-Ad	bronchial
33	chr16:83143200-83144200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:83143200-83144400	Enhancers	HSMMtube	muscle
35	chr16:83143400-83143600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:83143400-83144200	Active TSS	Osteobl	bone
37	chr16:83143600-83143800	Enhancers	NHDF-Ad	bronchial
38	chr16:83143600-83144000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:83143800-83144000	Enhancers	Fetal Stomach	stomach
40	chr16:83143800-83144000	Flanking Active TSS	NHDF-Ad	bronchial
41	chr16:83143800-83144200	Enhancers	HSMM	muscle
42	chr16:83144000-83144200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:83144000-83144200	Enhancers	NHDF-Ad	bronchial
44	chr16:83144200-83147000	Weak transcription	NHDF-Ad	bronchial
45	chr16:83144200-83149200	Weak transcription	HSMM	muscle
46	chr16:83144200-83149600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:83144400-83153200	Weak transcription	HSMMtube	muscle
48	chr16:83145000-83145200	Enhancers	Placenta	Placenta
49	chr16:83145000-83145400	Enhancers	Psoas Muscle	Psoas
50	chr16:83145400-83147200	Weak transcription	Psoas Muscle	Psoas

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