Variant report

Variant	nsv521663
Chromosome Location	chr16:76969598-77091611
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:2)
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	chr16:77078662..77079429-chr16:77203303..77204211,3	MCF-7	breast:
2	chr16:76887896..76888842-chr16:77076469..77077719,11	MCF-7	breast:
3	chr16:77044641..77046687-chr16:77049304..77051697,2	K562	blood:
4	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:
5	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:
6	chr16:77044641..77046687-chr16:77049304..77051697,2	K562	blood:
7	chr16:76856883..76857419-chr16:77076804..77077643,2	MCF-7	breast:
8	chr16:77059610..77062396-chr16:77260233..77262257,2	K562	blood:
9	chr16:77076688..77077729-chr16:77203577..77204202,3	MCF-7	breast:
10	chr16:76699528..76700343-chr16:77076632..77077627,2	MCF-7	breast:
11	chr16:76886880..76887748-chr16:77077328..77078325,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS18-2	chr16:77028205-77028433	XLOC_012014
2	lnc-ADAMTS18-2	chr16:77042061-77042204	XLOC_012014

No data

Variant related genes	Relation type
PYGO2	miRNA target sites
QARS	miRNA target sites

Extended variants
information (count: 2596 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2596 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533243462	chr16:76974012-76974013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550146786	chr16:76974056-76974057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562861901	chr16:76974064-76974065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527255655	chr16:76974095-76974096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531697196	chr16:76974142-76974143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144409839	chr16:76974154-76974155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568426643	chr16:76974175-76974176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369855682	chr16:76974195-76974196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74492246	chr16:76974201-76974202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534336175	chr16:76974218-76974219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201896433	chr16:76974265-76974266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140170884	chr16:76974287-76974288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28703839	chr16:76974319-76974320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539732421	chr16:76974324-76974325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556396338	chr16:76974338-76974339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs8048870	chr16:76974339-76974340	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535080532	chr16:76974346-76974347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555358978	chr16:76974354-76974355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572032462	chr16:76974355-76974356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553142243	chr16:76976805-76976806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10459864	chr16:76976809-76976810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs373909197	chr16:76976815-76976816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545582777	chr16:76976833-76976834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559227074	chr16:76976863-76976864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575989347	chr16:76976892-76976893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544627269	chr16:76976895-76976896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560932801	chr16:76976957-76976958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536124084	chr16:76976985-76976986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540226776	chr16:76976990-76976991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189199110	chr16:76976992-76976993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575396794	chr16:76977016-76977017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532094468	chr16:76977057-76977058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551939100	chr16:76977060-76977061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568757693	chr16:76977074-76977075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538057723	chr16:76977084-76977085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113130833	chr16:76977091-76977092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548145339	chr16:76977116-76977117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369013171	chr16:76977153-76977154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568347208	chr16:76977162-76977163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12598153	chr16:76977191-76977192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553345645	chr16:76977197-76977198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553975855	chr16:76977201-76977202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139662171	chr16:76977239-76977240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76487873	chr16:76977248-76977249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559194293	chr16:76977274-76977275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57852654	chr16:76977277-76977278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs397971033	chr16:76977283-76977284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548920802	chr16:76977286-76977287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544802963	chr16:76977294-76977295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554918804	chr16:76977309-76977310	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Lung cancer	24585490	CNVD
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76974000-76974400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:76976800-76979000	Enhancers	Brain Germinal Matrix	brain
3	chr16:76977000-76978000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:76977200-76977400	Enhancers	A549	lung
5	chr16:76977400-76978400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:76977400-76979800	Weak transcription	A549	lung
7	chr16:76977600-76978000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:76977800-76978200	Enhancers	Fetal Lung	lung
9	chr16:76978000-76978400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr16:76978000-76980800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:76978200-76978800	Enhancers	Fetal Brain Male	brain
12	chr16:76978200-76980800	Weak transcription	Fetal Lung	lung
13	chr16:76978400-76979000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:76978400-76980200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr16:76978800-76980800	Weak transcription	Fetal Brain Male	brain
16	chr16:76979000-76980800	Weak transcription	Brain Germinal Matrix	brain
17	chr16:76979200-76982200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr16:76979400-76982000	Enhancers	Fetal Muscle Leg	muscle
19	chr16:76979400-76982200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr16:76979600-76981200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr16:76979800-76980200	ZNF genes & repeats	A549	lung
22	chr16:76980000-76981200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr16:76980200-76980600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:76980200-76982000	Flanking Active TSS	A549	lung
25	chr16:76980600-76981000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:76980600-76981200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr16:76980600-76981400	Enhancers	Hela-S3	cervix
28	chr16:76980600-76981600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:76980600-76981600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr16:76980800-76981200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr16:76980800-76981200	Enhancers	Colon Smooth Muscle	Colon
32	chr16:76980800-76981400	Enhancers	K562	blood
33	chr16:76980800-76981400	Enhancers	Osteobl	bone
34	chr16:76980800-76982000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:76980800-76982000	Enhancers	Brain Germinal Matrix	brain
36	chr16:76980800-76982200	Enhancers	Fetal Stomach	stomach
37	chr16:76980800-76982400	Enhancers	Fetal Brain Female	brain
38	chr16:76980800-76982400	Enhancers	Fetal Lung	lung
39	chr16:76980800-76982800	Enhancers	Fetal Brain Male	brain
40	chr16:76981000-76981400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr16:76981000-76981400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:76981000-76981400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr16:76981000-76981400	Enhancers	HMEC	breast
44	chr16:76981000-76981600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr16:76981000-76981800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:76981000-76981800	Enhancers	NH-A	brain
47	chr16:76981000-76982000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr16:76981400-76982000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:76981600-76982000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:76981600-76982000	Enhancers	Brain Anterior Caudate	brain

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