Variant report

Variant	nsv833306
Chromosome Location	chr16:83113899-83298775
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:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
2	chr16:83145390..83147785-chr16:83148088..83150957,2	K562	blood:
3	chr16:83146621..83147770-chr16:83389405..83390519,10	MCF-7	breast:
4	chr16:83147849..83150197-chr16:83152325..83154955,2	MCF-7	breast:
5	chr16:83110764..83113260-chr16:83114875..83116423,2	K562	blood:
6	chr16:83233439..83234189-chr16:83480103..83481067,2	MCF-7	breast:
7	chr16:83259024..83260807-chr16:83268178..83271080,2	MCF-7	breast:
8	chr16:83281474..83283098-chr16:83284747..83286442,2	K562	blood:
9	chr16:83146850..83147610-chr16:83479581..83481030,3	MCF-7	breast:
10	chr16:83238392..83240395-chr16:83243679..83246197,2	K562	blood:
11	chr16:83146835..83147818-chr16:83912265..83913241,2	MCF-7	breast:
12	chr16:83147849..83150197-chr16:83152325..83154955,2	MCF-7	breast:
13	chr12:119903985..119904616-chr16:83281227..83281958,2	MCF-7	breast:
14	chr16:83162873..83165569-chr16:83180869..83183939,3	K562	blood:
15	chr16:83238392..83240395-chr16:83243679..83246197,2	K562	blood:
16	chr16:83146492..83147577-chr16:83389444..83390399,3	MCF-7	breast:
17	chr16:83233448..83234209-chr16:83474831..83475337,2	MCF-7	breast:
18	chr16:83162873..83165569-chr16:83180869..83183939,3	K562	blood:
19	chr13:84761434..84763483-chr16:83281252..83283046,2	MCF-7	breast:
20	chr16:83281474..83283098-chr16:83284747..83286442,2	K562	blood:
21	chr16:83295446..83298248-chr16:83300492..83302868,2	K562	blood:
22	chr16:83259024..83260807-chr16:83268178..83271080,2	MCF-7	breast:
23	chr16:83277277..83279552-chr16:83280416..83282359,2	K562	blood:
24	chr16:83277277..83279552-chr16:83280416..83282359,2	K562	blood:
25	chr16:83146678..83147221-chr16:83920402..83921328,2	MCF-7	breast:

(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: 11821 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:11821 , 50 per page) page: 1 2 3 4 5 6 7 ... 237

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556652162	chr16:83113920-83113921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576423350	chr16:83113926-83113927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149016331	chr16:83113937-83113938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182966091	chr16:83113954-83113955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188458796	chr16:83113966-83113967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4278739	chr16:83114000-83114001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147112258	chr16:83114017-83114018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543517763	chr16:83114029-83114030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528926922	chr16:83114030-83114031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4548846	chr16:83114033-83114034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs370713691	chr16:83114034-83114035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192864415	chr16:83114072-83114073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572342233	chr16:83114093-83114094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185436430	chr16:83114099-83114100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546133334	chr16:83114108-83114109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72796259	chr16:83114119-83114120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs386793164	chr16:83114155-83114156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114506324	chr16:83114156-83114157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386793165	chr16:83114167-83114168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7190042	chr16:83114168-83114169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7195626	chr16:83114252-83114253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs570136372	chr16:83114264-83114265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192298849	chr16:83114315-83114316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559081203	chr16:83114318-83114319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144215064	chr16:83114350-83114351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184733585	chr16:83114359-83114360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12925445	chr16:83114361-83114362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188108183	chr16:83114385-83114386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541620359	chr16:83114404-83114405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562473362	chr16:83114414-83114415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555338958	chr16:83114440-83114441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372081243	chr16:83114463-83114464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375477252	chr16:83114468-83114469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368809145	chr16:83114474-83114475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12929477	chr16:83114475-83114476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71402049	chr16:83114476-83114477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9937798	chr16:83114485-83114486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562772387	chr16:83114487-83114488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200408051	chr16:83114488-83114489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575000228	chr16:83114489-83114490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71148809	chr16:83114493-83114494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112093813	chr16:83114499-83114500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201438400	chr16:83114504-83114505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189321107	chr16:83114507-83114508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113949093	chr16:83114533-83114534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562300624	chr16:83114558-83114559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541201364	chr16:83114563-83114564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181013576	chr16:83114589-83114590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376698534	chr16:83114597-83114598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186260321	chr16:83114607-83114608	Weak transcription	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:993 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83090200-83129000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:83092400-83129600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:83097600-83129200	Weak transcription	HMEC	breast
4	chr16:83106800-83129600	Weak transcription	HSMM	muscle
5	chr16:83107000-83115200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:83107000-83129400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:83111200-83116600	Weak transcription	Fetal Brain Male	brain
8	chr16:83115000-83115200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:83115200-83117600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:83116400-83117000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr16:83116600-83117000	Enhancers	Fetal Brain Female	brain
12	chr16:83116600-83117800	Enhancers	Fetal Brain Male	brain
13	chr16:83121000-83122200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr16:83121800-83122200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr16:83126000-83129800	Weak transcription	HSMMtube	muscle
16	chr16:83127800-83128000	Enhancers	Psoas Muscle	Psoas
17	chr16:83128400-83129600	Weak transcription	Psoas Muscle	Psoas
18	chr16:83128600-83128800	Weak transcription	NHEK	skin
19	chr16:83128800-83130200	Enhancers	NHEK	skin
20	chr16:83129000-83130000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:83129200-83129600	Enhancers	Fetal Intestine Small	intestine
22	chr16:83129200-83130400	Enhancers	HMEC	breast
23	chr16:83129400-83130000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:83129400-83130000	Enhancers	NH-A	brain
25	chr16:83129600-83129800	Enhancers	Psoas Muscle	Psoas
26	chr16:83129600-83130400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:83129600-83130400	Enhancers	HSMM	muscle
28	chr16:83129600-83130400	Enhancers	NHDF-Ad	bronchial
29	chr16:83129600-83130400	Enhancers	Osteobl	bone
30	chr16:83129800-83130000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr16:83129800-83130200	Enhancers	HSMMtube	muscle
32	chr16:83129800-83130600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:83129800-83145000	Weak transcription	Psoas Muscle	Psoas
34	chr16:83130000-83130200	Active TSS	Duodenum Mucosa	Duodenum
35	chr16:83130000-83131600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr16:83130000-83133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:83130200-83130400	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr16:83130400-83131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr16:83130400-83139400	Weak transcription	HSMM	muscle
40	chr16:83131200-83131800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:83131600-83132800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:83132600-83133600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:83132800-83135600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:83133400-83133600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr16:83133400-83134400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:83133400-83136400	Enhancers	HMEC	breast
47	chr16:83133400-83143200	Weak transcription	HSMMtube	muscle
48	chr16:83133600-83134400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr16:83133600-83149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:83134000-83134200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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