Variant report

Variant	nsv827769
Chromosome Location	chr16:79628439-79631347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371157295	chr16:79628500-79628501	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs79049104	chr16:79628501-79628502	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs544952600	chr16:79628518-79628519	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs66467731	chr16:79628537-79628538	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs377322660	chr16:79628552-79628553	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547816837	chr16:79628557-79628558	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372925326	chr16:79628562-79628563	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs566373269	chr16:79628563-79628564	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536499322	chr16:79628575-79628576	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs564834501	chr16:79628580-79628581	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs36052284	chr16:79628609-79628610	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76419131	chr16:79628619-79628620	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs75723118	chr16:79628620-79628621	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs527425183	chr16:79628622-79628623	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs143565138	chr16:79628629-79628630	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs186417451	chr16:79628702-79628703	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs146826775	chr16:79628715-79628716	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs544983395	chr16:79628719-79628720	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs140480589	chr16:79628731-79628732	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs572324586	chr16:79628758-79628759	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs30413	chr16:79628802-79628803	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76707698	chr16:79628811-79628812	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs531511015	chr16:79628818-79628819	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs543979548	chr16:79628872-79628873	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs565369176	chr16:79628885-79628886	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs532460794	chr16:79628912-79628913	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs375735724	chr16:79628934-79628935	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs549287492	chr16:79628942-79628943	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs370908283	chr16:79628946-79628947	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs148804129	chr16:79628952-79628953	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs75635808	chr16:79628973-79628974	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs28649221	chr16:79628981-79628982	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs28693945	chr16:79629006-79629007	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs377383083	chr16:79629022-79629023	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565908780	chr16:79629046-79629047	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs548737273	chr16:79629052-79629053	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs368845624	chr16:79629055-79629056	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs530440765	chr16:79629062-79629063	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530371080	chr16:79629067-79629068	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548459695	chr16:79629079-79629080	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs40965	chr16:79629123-79629124	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369529931	chr16:79629133-79629134	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs537236524	chr16:79629136-79629137	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555884966	chr16:79629175-79629176	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs571021246	chr16:79629210-79629211	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs538323267	chr16:79629217-79629218	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs560317422	chr16:79629244-79629245	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs3743597	chr16:79629260-79629261	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571926199	chr16:79629261-79629262	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs373828699	chr16:79629328-79629329	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Autism	19492091	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79622200-79631400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:79623800-79629200	Weak transcription	Aorta	Aorta
3	chr16:79624000-79628800	Weak transcription	Colon Smooth Muscle	Colon
4	chr16:79624000-79629000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:79624000-79629800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr16:79624400-79629000	Weak transcription	Ovary	ovary
7	chr16:79624800-79629000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr16:79624800-79629600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:79624800-79630000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:79624800-79630800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr16:79624800-79631400	Weak transcription	Esophagus	oesophagus
12	chr16:79624800-79632400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:79625000-79628600	Weak transcription	Fetal Intestine Small	intestine
14	chr16:79625000-79629200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr16:79625800-79636800	Active TSS	Psoas Muscle	Psoas
16	chr16:79626000-79628600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
17	chr16:79626200-79628600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:79626400-79628800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr16:79626400-79629400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr16:79626400-79631800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr16:79626600-79628600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:79626600-79629200	Weak transcription	Fetal Stomach	stomach
23	chr16:79626600-79632400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr16:79626800-79628800	Weak transcription	Fetal Kidney	kidney
25	chr16:79626800-79629200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr16:79626800-79636400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr16:79627200-79628800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr16:79627200-79629000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr16:79627200-79633000	Transcr. at gene 5' and 3'	Fetal Lung	lung
30	chr16:79627200-79635600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
31	chr16:79627400-79628800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr16:79627400-79628800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr16:79627400-79629200	Weak transcription	HSMM	muscle
34	chr16:79627400-79629400	Weak transcription	Fetal Thymus	thymus
35	chr16:79627400-79629600	Active TSS	Brain Hippocampus Middle	brain
36	chr16:79627400-79632600	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr16:79627600-79628600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:79627600-79628600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr16:79627600-79628600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:79627600-79628600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:79627600-79628600	Enhancers	Brain Anterior Caudate	brain
42	chr16:79627600-79628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr16:79627600-79628800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:79627600-79628800	Weak transcription	Brain Substantia Nigra	brain
45	chr16:79627600-79628800	Weak transcription	NHEK	skin
46	chr16:79627600-79629000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr16:79627600-79629400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr16:79627800-79628600	Weak transcription	Right Atrium	heart
49	chr16:79627800-79629000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr16:79627800-79629200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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