Variant report

Variant	nsv572997
Chromosome Location	chr16:75966770-76055959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75977745..75979693-chr16:75980372..75982208,2	MCF-7	breast:
2	chr16:75962160..75963903-chr16:75968199..75970527,2	K562	blood:
3	chr16:75963255..75965166-chr16:75978260..75980431,2	K562	blood:
4	chr16:75967179..75969484-chr17:4845937..4847850,2	MCF-7	breast:
5	chr16:75977745..75979693-chr16:75980372..75982208,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108523	chromatin interactions

Extended variants
information (count: 4387 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:4387 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540134490	chr16:75967181-75967182	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188109544	chr16:75967182-75967183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567348688	chr16:75967219-75967220	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536884322	chr16:75967243-75967244	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371752676	chr16:75967246-75967247	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148929924	chr16:75967264-75967265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573607081	chr16:75967274-75967275	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539361121	chr16:75967280-75967281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559168889	chr16:75967294-75967295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575559902	chr16:75967309-75967310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575919543	chr16:75967375-75967376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574942378	chr16:75967383-75967384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544548373	chr16:75967390-75967391	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs374488309	chr16:75967399-75967400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376506491	chr16:75967406-75967407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs180888127	chr16:75967416-75967417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371138830	chr16:75967430-75967431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs375902744	chr16:75967492-75967493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528245664	chr16:75967550-75967551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551279224	chr16:75967581-75967582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565138042	chr16:75967587-75967588	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368891292	chr16:75967633-75967634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530468882	chr16:75967672-75967673	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550538203	chr16:75967725-75967726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567283232	chr16:75967726-75967727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543797269	chr16:75967736-75967737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs536329927	chr16:75967786-75967787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112757410	chr16:75967832-75967833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs74025612	chr16:75967837-75967838	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567084642	chr16:75967847-75967848	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145050320	chr16:75967861-75967862	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376342438	chr16:75967921-75967922	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558991418	chr16:75967925-75967926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566913716	chr16:75968011-75968012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575892276	chr16:75968019-75968020	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537893775	chr16:75968027-75968028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368365350	chr16:75968038-75968039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574623408	chr16:75968060-75968061	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370721600	chr16:75968073-75968074	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs142961502	chr16:75968085-75968086	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375455113	chr16:75968108-75968109	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs71394248	chr16:75968115-75968116	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs151120985	chr16:75968122-75968123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs373089159	chr16:75968124-75968125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs543895028	chr16:75968125-75968126	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560961252	chr16:75968131-75968132	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574173041	chr16:75968164-75968165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529678627	chr16:75968168-75968169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs367633081	chr16:75968170-75968171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71394249	chr16:75968231-75968232	Inactive region	Chromatin interactive region	1 gene(s)	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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75972000-75973600	Enhancers	HMEC	breast
2	chr16:75972400-75972800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr16:75972600-75973200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:75972800-75973200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr16:75972800-75973400	Enhancers	Brain Cingulate Gyrus	brain
6	chr16:75972800-75973600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:75973000-75973200	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr16:75973200-75978800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:75973200-75991800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:75973400-75975000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr16:75974400-75974600	Enhancers	Fetal Intestine Large	intestine
12	chr16:75974800-75975800	Weak transcription	Fetal Intestine Large	intestine
13	chr16:75975000-75975600	Enhancers	Brain Anterior Caudate	brain
14	chr16:75975000-75975600	Enhancers	Fetal Intestine Small	intestine
15	chr16:75975000-75975800	Enhancers	Brain Cingulate Gyrus	brain
16	chr16:75975000-75975800	Enhancers	Brain Substantia Nigra	brain
17	chr16:75975000-75977200	Enhancers	Brain Hippocampus Middle	brain
18	chr16:75975200-75978200	Enhancers	Fetal Brain Male	brain
19	chr16:75975400-75975800	Enhancers	Duodenum Mucosa	Duodenum
20	chr16:75975600-75976200	Weak transcription	Fetal Intestine Small	intestine
21	chr16:75975600-75981400	Weak transcription	Brain Anterior Caudate	brain
22	chr16:75975800-75976000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr16:75975800-75979200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr16:75975800-75981200	Weak transcription	Brain Substantia Nigra	brain
25	chr16:75975800-75982400	Enhancers	Fetal Intestine Large	intestine
26	chr16:75976000-75976400	Enhancers	Duodenum Mucosa	Duodenum
27	chr16:75976200-75981000	Enhancers	Fetal Intestine Small	intestine
28	chr16:75976400-75977200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr16:75976400-75978000	Enhancers	Stomach Mucosa	stomach
30	chr16:75976400-75979200	Enhancers	Pancreas	Pancrea
31	chr16:75976600-75977400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:75977000-75977800	Enhancers	Small Intestine	intestine
33	chr16:75977200-75977400	Enhancers	Brain Angular Gyrus	brain
34	chr16:75977200-75977800	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr16:75977200-75979600	Enhancers	Duodenum Mucosa	Duodenum
36	chr16:75977200-75980600	Weak transcription	Brain Hippocampus Middle	brain
37	chr16:75977400-75978000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr16:75977600-75978200	Enhancers	HepG2	liver
39	chr16:75977600-75978400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr16:75977800-75978000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr16:75977800-75978200	Enhancers	Hela-S3	cervix
42	chr16:75977800-75979000	Weak transcription	Brain Angular Gyrus	brain
43	chr16:75977800-75979000	Weak transcription	Small Intestine	intestine
44	chr16:75977800-75981600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr16:75978000-75978200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr16:75978000-75978400	Weak transcription	Stomach Mucosa	stomach
47	chr16:75978200-75983200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:75978400-75978800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr16:75978400-75980400	Enhancers	Stomach Mucosa	stomach
50	chr16:75978800-75979000	Enhancers	Rectal Mucosa Donor 31	rectum

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