Variant report

Variant	nsv949378
Chromosome Location	chr16:83240439-83307778
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:83281474..83283098-chr16:83284747..83286442,2	K562	blood:
2	chr16:83277277..83279552-chr16:83280416..83282359,2	K562	blood:
3	chr16:83300692..83302901-chr16:83303666..83306436,2	K562	blood:
4	chr16:83238392..83240395-chr16:83243679..83246197,2	K562	blood:
5	chr16:83259024..83260807-chr16:83268178..83271080,2	MCF-7	breast:
6	chr16:83295446..83298248-chr16:83300492..83302868,2	K562	blood:
7	chr16:83277277..83279552-chr16:83280416..83282359,2	K562	blood:
8	chr13:84761434..84763483-chr16:83281252..83283046,2	MCF-7	breast:
9	chr12:119903985..119904616-chr16:83281227..83281958,2	MCF-7	breast:
10	chr16:83281474..83283098-chr16:83284747..83286442,2	K562	blood:
11	chr16:83295446..83298248-chr16:83300492..83302868,2	K562	blood:
12	chr16:83300692..83302901-chr16:83303666..83306436,2	K562	blood:
13	chr16:83259024..83260807-chr16:83268178..83271080,2	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: 4217 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:4217 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8045311	chr16:83240439-83240440	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148221598	chr16:83240471-83240472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75199540	chr16:83240509-83240510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185097607	chr16:83240532-83240533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371709262	chr16:83240558-83240559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558369858	chr16:83240559-83240560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16959795	chr16:83240565-83240566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35145353	chr16:83240583-83240584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs28429871	chr16:83240584-83240585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190339025	chr16:83240603-83240604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4575520	chr16:83240613-83240614	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182121478	chr16:83240643-83240644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78657570	chr16:83240644-83240645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560033007	chr16:83240669-83240670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141203395	chr16:83240693-83240694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577173869	chr16:83240705-83240706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546151305	chr16:83240735-83240736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369347743	chr16:83240739-83240740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4577073	chr16:83240753-83240754	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150308555	chr16:83240761-83240762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561941497	chr16:83240767-83240768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs137889080	chr16:83240770-83240771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550869920	chr16:83240779-83240780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115413503	chr16:83240787-83240788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185087784	chr16:83240792-83240793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144126959	chr16:83240793-83240794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551982002	chr16:83240824-83240825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534690396	chr16:83240913-83240914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554847759	chr16:83240934-83240935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189510111	chr16:83240975-83240976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77102415	chr16:83241019-83241020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557316263	chr16:83241035-83241036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74774117	chr16:83241069-83241070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531469173	chr16:83241080-83241081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147332014	chr16:83241108-83241109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374415962	chr16:83241113-83241114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79579984	chr16:83241128-83241129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553310704	chr16:83241132-83241133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55932858	chr16:83241150-83241151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56016626	chr16:83241177-83241178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139314476	chr16:83241183-83241184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568400322	chr16:83241211-83241212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79170423	chr16:83241215-83241216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576237982	chr16:83241218-83241219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561804564	chr16:83241243-83241244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531010961	chr16:83241262-83241263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544368999	chr16:83241263-83241264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535520018	chr16:83241278-83241279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs16959801	chr16:83241283-83241284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533657839	chr16:83241303-83241304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Urothelial carcinoma	21177765	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:83217400-83285000	Weak transcription	Aorta	Aorta
2	chr16:83225600-83280600	Weak transcription	Psoas Muscle	Psoas
3	chr16:83228000-83245200	Weak transcription	Left Ventricle	heart
4	chr16:83233800-83251000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr16:83234200-83251000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:83234200-83251000	Weak transcription	NHEK	skin
7	chr16:83237000-83245400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:83239600-83240600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr16:83239600-83240600	Enhancers	HSMMtube	muscle
10	chr16:83239800-83241000	Enhancers	HSMM	muscle
11	chr16:83240000-83245600	Weak transcription	Right Ventricle	heart
12	chr16:83240200-83258200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:83240200-83266600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:83240400-83242000	Weak transcription	NH-A	brain
15	chr16:83240400-83243400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:83240400-83269200	Weak transcription	HMEC	breast
17	chr16:83240600-83261400	Weak transcription	HSMMtube	muscle
18	chr16:83241000-83244000	Weak transcription	HSMM	muscle
19	chr16:83243400-83243600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:83243600-83298800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr16:83244000-83245200	Strong transcription	HSMM	muscle
22	chr16:83245000-83245800	Enhancers	Fetal Heart	heart
23	chr16:83245200-83245400	Enhancers	Fetal Muscle Trunk	muscle
24	chr16:83245200-83245800	Enhancers	Pancreas	Pancrea
25	chr16:83245200-83246000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr16:83245200-83246000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr16:83245200-83246000	Enhancers	Lung	lung
28	chr16:83245200-83246400	Enhancers	Fetal Muscle Leg	muscle
29	chr16:83245200-83246400	Enhancers	Left Ventricle	heart
30	chr16:83245200-83246400	Enhancers	Right Atrium	heart
31	chr16:83245200-83246400	Enhancers	Stomach Smooth Muscle	stomach
32	chr16:83245200-83250800	Weak transcription	HSMM	muscle
33	chr16:83245400-83245800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr16:83245400-83246000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr16:83245400-83246000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr16:83245400-83246200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:83245400-83246200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr16:83245400-83260800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr16:83245600-83246000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr16:83245600-83246000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:83245600-83246000	Active TSS	Spleen	Spleen
42	chr16:83245600-83246000	Enhancers	GM12878-XiMat	blood
43	chr16:83245600-83246600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr16:83245600-83246600	Enhancers	Right Ventricle	heart
45	chr16:83245800-83246200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr16:83245800-83246400	Flanking Active TSS	Fetal Heart	heart
47	chr16:83246200-83247600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr16:83246200-83248800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr16:83246400-83247000	Enhancers	Fetal Heart	heart
50	chr16:83246400-83249200	Weak transcription	Fetal Muscle Leg	muscle

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