Variant report

Variant	nsv906933
Chromosome Location	chr16:75907222-76062242
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75963255..75965166-chr16:75978260..75980431,2	K562	blood:
2	chr16:75962160..75963903-chr16:75968199..75970527,2	K562	blood:
3	chr16:75905192..75908062-chr16:75922161..75923851,2	K562	blood:
4	chr1:90287489..90288189-chr16:75942151..75942717,2	MCF-7	breast:
5	chr16:75905192..75908062-chr16:75922161..75923851,2	K562	blood:
6	chr16:75963255..75965166-chr16:75978260..75980431,2	K562	blood:
7	chr16:75962160..75963903-chr16:75968199..75970527,2	K562	blood:
8	chr16:75902948..75904497-chr16:75904944..75907601,2	K562	blood:
9	chr16:75967179..75969484-chr17:4845937..4847850,2	MCF-7	breast:
10	chr16:75977745..75979693-chr16:75980372..75982208,2	MCF-7	breast:
11	chr16:75977745..75979693-chr16:75980372..75982208,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108523	chromatin interactions

Extended variants
information (count: 5910 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:5910 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540618739	chr16:75916405-75916406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7202697	chr16:75916414-75916415	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532891669	chr16:75916424-75916425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577322649	chr16:75916432-75916433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145508346	chr16:75916533-75916534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373319919	chr16:75916564-75916565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182981908	chr16:75916577-75916578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531870396	chr16:75916594-75916595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148862868	chr16:75916596-75916597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145219992	chr16:75916677-75916678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529849562	chr16:75916695-75916696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546585581	chr16:75916705-75916706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187402782	chr16:75916710-75916711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371448960	chr16:75916766-75916767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551780485	chr16:75916778-75916779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375772477	chr16:75916807-75916808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568494143	chr16:75916839-75916840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539924534	chr16:75916864-75916865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs137902164	chr16:75916884-75916885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568566521	chr16:75916899-75916900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192254641	chr16:75916902-75916903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554187572	chr16:75916916-75916917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577587358	chr16:75916936-75916937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146093119	chr16:75916949-75916950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540116334	chr16:75916966-75916967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140820396	chr16:75917011-75917012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559931104	chr16:75917054-75917055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576496599	chr16:75917082-75917083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542005942	chr16:75917084-75917085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529025141	chr16:75917159-75917160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562169997	chr16:75917166-75917167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566224929	chr16:75917174-75917175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574561719	chr16:75917185-75917186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12922180	chr16:75917211-75917212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185382621	chr16:75917226-75917227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560065133	chr16:75917273-75917274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532303746	chr16:75917275-75917276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549264232	chr16:75917328-75917329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190669104	chr16:75917341-75917342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562189015	chr16:75917343-75917344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144857265	chr16:75917355-75917356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192274113	chr16:75917358-75917359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12928076	chr16:75936826-75936827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555422278	chr16:75936860-75936861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559407644	chr16:75936867-75936868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572577222	chr16:75936880-75936881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377429950	chr16:75936937-75936938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111845374	chr16:75936945-75936946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535239650	chr16:75936985-75936986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558032180	chr16:75937003-75937004	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
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:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75916400-75917000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:75916400-75917000	Enhancers	HepG2	liver
3	chr16:75916400-75917200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:75916600-75917000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr16:75916600-75917400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr16:75936800-75937400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:75937000-75938200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:75937000-75938200	Enhancers	HMEC	breast
9	chr16:75937200-75938000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:75937600-75938200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:75937800-75938200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:75938000-75943200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:75938200-75943000	Weak transcription	HMEC	breast
14	chr16:75942600-75943400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr16:75942800-75943200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:75942800-75943200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr16:75942800-75943400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr16:75942800-75943400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr16:75942800-75943400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr16:75942800-75944000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr16:75943000-75943400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr16:75943000-75944800	Enhancers	HMEC	breast
23	chr16:75943200-75944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:75944800-75946000	Weak transcription	HMEC	breast
25	chr16:75945800-75946400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:75946000-75946200	Enhancers	HMEC	breast
27	chr16:75946200-75946400	Weak transcription	HMEC	breast
28	chr16:75946400-75952000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:75947400-75947800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr16:75947800-75955000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:75949000-75949200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr16:75950400-75950800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:75950800-75952000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:75951000-75951200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr16:75951400-75952600	Enhancers	Fetal Lung	lung
36	chr16:75952000-75952600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:75952000-75954400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:75952200-75952600	Enhancers	Brain Hippocampus Middle	brain
39	chr16:75952400-75953600	Enhancers	Brain Substantia Nigra	brain
40	chr16:75952600-75953000	Weak transcription	Brain Hippocampus Middle	brain
41	chr16:75952600-75953200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:75952600-75953800	Weak transcription	Fetal Lung	lung
43	chr16:75953000-75953200	Enhancers	Brain Hippocampus Middle	brain
44	chr16:75953200-75953400	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr16:75953200-75954400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:75953200-75954400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr16:75953400-75953600	Enhancers	Brain Anterior Caudate	brain
48	chr16:75953400-75953600	Enhancers	Brain Hippocampus Middle	brain
49	chr16:75953400-75954000	Enhancers	Adipose Nuclei	Adipose
50	chr16:75953600-75953800	Flanking Active TSS	Brain Hippocampus Middle	brain

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