Variant report

Variant	nsv962206
Chromosome Location	chr16:79872651-79878527
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:79877269..79880011-chr16:79882461..79884349,2	K562	blood:
2	chr16:79869480..79871405-chr16:79876316..79879081,2	K562	blood:
3	chr16:79871932..79877574-chr16:79878123..79882364,6	K562	blood:
4	chr16:79871932..79877574-chr16:79878123..79882364,6	K562	blood:
5	chr16:79877945..79879794-chr16:79880017..79882349,2	MCF-7	breast:
6	chr16:79876296..79878521-chr16:79970090..79972829,2	K562	blood:
7	chr16:79877777..79879938-chr16:79948611..79950631,2	K562	blood:
8	chr16:79859219..79861466-chr16:79877889..79879559,2	K562	blood:
9	chr16:79872368..79874855-chr16:79875498..79877925,2	MCF-7	breast:
10	chr16:79873710..79876055-chr16:79879672..79882063,2	K562	blood:
11	chr16:79875829..79877990-chr16:79901353..79904058,2	K562	blood:
12	chr16:79797845..79800017-chr16:79875232..79877671,2	K562	blood:
13	chr16:79876074..79877931-chr16:79879588..79883797,3	K562	blood:
14	chr16:79870617..79872194-chr16:79875627..79877913,2	K562	blood:
15	chr16:79875743..79877329-chr16:79901353..79903066,2	K562	blood:
16	chr16:79872368..79874855-chr16:79875498..79877925,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261082	chromatin interactions

Extended variants
information (count: 360 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9921449	chr16:79872686-79872687	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115015371	chr16:79872701-79872702	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs539926285	chr16:79872713-79872714	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs527979244	chr16:79872734-79872735	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs181965255	chr16:79872744-79872745	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs553164646	chr16:79872745-79872746	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs371182926	chr16:79872784-79872785	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs572717351	chr16:79872787-79872788	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs9646326	chr16:79872798-79872799	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs9646327	chr16:79872801-79872802	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531673056	chr16:79872810-79872811	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs140602613	chr16:79872816-79872817	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568704588	chr16:79872824-79872825	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs371309443	chr16:79872829-79872830	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539580023	chr16:79872831-79872832	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs533906975	chr16:79872846-79872847	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs557671916	chr16:79872913-79872914	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs539037745	chr16:79872920-79872921	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs374763512	chr16:79872930-79872931	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs375633584	chr16:79872989-79872990	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs117937032	chr16:79873008-79873009	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115780849	chr16:79873019-79873020	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9319544	chr16:79873021-79873022	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573707401	chr16:79873027-79873028	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187506689	chr16:79873045-79873046	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556332669	chr16:79873052-79873053	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577671164	chr16:79873067-79873068	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545536171	chr16:79873085-79873086	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191487922	chr16:79873089-79873090	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370543002	chr16:79873101-79873102	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117426813	chr16:79873114-79873115	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556922806	chr16:79873117-79873118	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542944130	chr16:79873202-79873203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560947430	chr16:79873216-79873217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145660502	chr16:79873220-79873221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549773973	chr16:79873226-79873227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11641047	chr16:79873232-79873233	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138182033	chr16:79873237-79873238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183181834	chr16:79873242-79873243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551519904	chr16:79873244-79873245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566583836	chr16:79873291-79873292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11644568	chr16:79873305-79873306	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555744828	chr16:79873312-79873313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369659554	chr16:79873315-79873316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185693562	chr16:79873322-79873323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537797542	chr16:79873323-79873324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74037858	chr16:79873357-79873358	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577637386	chr16:79873364-79873365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76587699	chr16:79873374-79873375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554323494	chr16:79873380-79873381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79868800-79874600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr16:79869800-79873600	Weak transcription	Placenta	Placenta
3	chr16:79870400-79877400	Weak transcription	Thymus	Thymus
4	chr16:79870600-79873000	Weak transcription	Adipose Nuclei	Adipose
5	chr16:79871600-79874400	Enhancers	Fetal Muscle Leg	muscle
6	chr16:79872000-79873000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:79872000-79873000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr16:79872000-79873000	Active TSS	Stomach Smooth Muscle	stomach
9	chr16:79872200-79872800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:79872200-79872800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:79872200-79872800	Active TSS	Brain Germinal Matrix	brain
12	chr16:79872200-79872800	Active TSS	Brain Substantia Nigra	brain
13	chr16:79872200-79872800	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr16:79872200-79872800	Active TSS	NHLF	lung
15	chr16:79872200-79873000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr16:79872200-79873000	Active TSS	NHDF-Ad	bronchial
17	chr16:79872400-79872800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
18	chr16:79872400-79872800	Active TSS	Ovary	ovary
19	chr16:79872400-79873000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr16:79872400-79873000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
21	chr16:79872400-79873000	Enhancers	HepG2	liver
22	chr16:79872400-79873400	Enhancers	Fetal Brain Female	brain
23	chr16:79872400-79874000	Enhancers	Fetal Intestine Small	intestine
24	chr16:79872400-79874800	Weak transcription	K562	blood
25	chr16:79872600-79872800	Active TSS	Brain Hippocampus Middle	brain
26	chr16:79872600-79872800	Flanking Active TSS	Fetal Stomach	stomach
27	chr16:79872600-79873000	Flanking Active TSS	Fetal Lung	lung
28	chr16:79872600-79873000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr16:79872600-79873200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:79872600-79873200	Bivalent Enhancer	Brain Anterior Caudate	brain
31	chr16:79872600-79873400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr16:79872600-79874400	Enhancers	Fetal Heart	heart
33	chr16:79872600-79875000	Enhancers	Rectal Smooth Muscle	rectum
34	chr16:79872800-79873000	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
35	chr16:79872800-79873000	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr16:79872800-79873000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
37	chr16:79872800-79873000	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr16:79872800-79873000	Enhancers	Fetal Brain Male	brain
39	chr16:79872800-79873000	Flanking Active TSS	Ovary	ovary
40	chr16:79872800-79873400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr16:79872800-79874600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:79872800-79874600	Enhancers	Colon Smooth Muscle	Colon
43	chr16:79872800-79875400	Enhancers	Fetal Stomach	stomach
44	chr16:79873000-79873200	Bivalent Enhancer	Brain Hippocampus Middle	brain
45	chr16:79873000-79873400	Enhancers	Adipose Nuclei	Adipose
46	chr16:79873000-79873600	Enhancers	Fetal Lung	lung
47	chr16:79873000-79873800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr16:79873000-79874000	Enhancers	Brain Substantia Nigra	brain
49	chr16:79873000-79874000	Enhancers	Fetal Intestine Large	intestine
50	chr16:79873000-79874000	Enhancers	Right Atrium	heart

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