Variant report

Variant	nsv1883
Chromosome Location	chr16:76519215-76563112
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:76527293..76528859-chr16:76529180..76530762,2	MCF-7	breast:
2	chr16:76519348..76521301-chr16:76524212..76526573,2	K562	blood:
3	chr16:76560975..76563666-chr16:76569503..76571277,2	K562	blood:
4	chr16:76527293..76528859-chr16:76529180..76530762,2	MCF-7	breast:
5	chr16:76534271..76535887-chr16:76537682..76540215,2	MCF-7	breast:
6	chr16:76534271..76535887-chr16:76537682..76540215,2	MCF-7	breast:
7	chr16:76542177..76544098-chr6:26155995..26158781,2	MCF-7	breast:
8	chr16:76519348..76521301-chr16:76524212..76526573,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000158373	chromatin interactions
ENSG00000168298	chromatin interactions

Extended variants
information (count: 2182 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2182 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564682443	chr16:76519233-76519234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544455723	chr16:76519234-76519235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192935596	chr16:76519249-76519250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28418796	chr16:76519272-76519273	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142297390	chr16:76519273-76519274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4888513	chr16:76519282-76519283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35723729	chr16:76519312-76519313	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371753567	chr16:76519326-76519327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139426054	chr16:76519329-76519330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373807313	chr16:76519345-76519346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150054516	chr16:76519350-76519351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556876094	chr16:76519370-76519371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567065883	chr16:76519379-76519380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535907422	chr16:76519414-76519415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35875511	chr16:76519435-76519436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552568702	chr16:76519458-76519459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572468760	chr16:76519468-76519469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377533892	chr16:76519473-76519474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559229568	chr16:76519474-76519475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35900964	chr16:76519484-76519485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529864649	chr16:76519488-76519489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146611399	chr16:76519491-76519492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561283929	chr16:76519507-76519508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145352372	chr16:76519542-76519543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185045566	chr16:76519545-76519546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7195541	chr16:76519551-76519552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560494491	chr16:76519555-76519556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190336731	chr16:76519587-76519588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146470810	chr16:76519636-76519637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552269144	chr16:76519651-76519652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549829801	chr16:76519658-76519659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116739222	chr16:76519691-76519692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149056135	chr16:76519701-76519702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143044561	chr16:76519736-76519737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567091634	chr16:76519770-76519771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535954741	chr16:76519775-76519776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552681872	chr16:76519791-76519792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538281336	chr16:76519806-76519807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566206425	chr16:76519820-76519821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75633003	chr16:76519827-76519828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558257287	chr16:76519913-76519914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192398082	chr16:76519914-76519915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544531436	chr16:76519971-76519972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555224234	chr16:76520008-76520009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148187437	chr16:76520028-76520029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184812865	chr16:76520038-76520039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560598441	chr16:76520052-76520053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369447060	chr16:76520076-76520077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571796365	chr16:76520086-76520087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546223999	chr16:76520103-76520104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Melanoma	22183965	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
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76516800-76523800	Weak transcription	Brain Angular Gyrus	brain
2	chr16:76517400-76522600	Enhancers	Liver	Liver
3	chr16:76518600-76519600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:76518600-76519600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr16:76518600-76519800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:76518600-76519800	Weak transcription	Brain Substantia Nigra	brain
7	chr16:76518600-76520200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:76518600-76523600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:76518600-76526800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:76518800-76520600	Weak transcription	Brain Hippocampus Middle	brain
11	chr16:76518800-76523600	Weak transcription	Brain Anterior Caudate	brain
12	chr16:76518800-76523800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr16:76519600-76522200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr16:76519600-76522800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:76519800-76520000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr16:76519800-76520000	Enhancers	Brain Substantia Nigra	brain
17	chr16:76520000-76520400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr16:76520000-76520400	Weak transcription	Brain Substantia Nigra	brain
19	chr16:76520200-76522400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr16:76520400-76520600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr16:76520400-76522200	Enhancers	Brain Substantia Nigra	brain
22	chr16:76520600-76521400	Enhancers	Brain Hippocampus Middle	brain
23	chr16:76520600-76523600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr16:76521400-76521600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr16:76521400-76521800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr16:76521400-76522200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr16:76521400-76523600	Weak transcription	Brain Hippocampus Middle	brain
28	chr16:76521800-76522000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr16:76522200-76522400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr16:76522200-76523600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr16:76522200-76523600	Weak transcription	Brain Substantia Nigra	brain
32	chr16:76523600-76524000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:76523600-76524000	Genic enhancers	Brain Substantia Nigra	brain
34	chr16:76523600-76524000	Active TSS	Left Ventricle	heart
35	chr16:76523600-76524400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr16:76523600-76524400	Enhancers	Brain Anterior Caudate	brain
37	chr16:76523600-76524600	Enhancers	Fetal Lung	lung
38	chr16:76523600-76524800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr16:76523600-76524800	Genic enhancers	Brain Hippocampus Middle	brain
40	chr16:76523600-76525200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr16:76523800-76524600	Enhancers	Brain Angular Gyrus	brain
42	chr16:76523800-76524600	Genic enhancers	Brain Cingulate Gyrus	brain
43	chr16:76524000-76524400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:76524000-76537000	Weak transcription	Brain Substantia Nigra	brain
45	chr16:76524400-76525600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr16:76524400-76537000	Weak transcription	Brain Anterior Caudate	brain
47	chr16:76524600-76526400	Weak transcription	Brain Angular Gyrus	brain
48	chr16:76524600-76537200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr16:76524800-76525600	Strong transcription	Brain Hippocampus Middle	brain
50	chr16:76525200-76554000	Weak transcription	Brain Inferior Temporal Lobe	brain

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