Variant report

Variant	nsv907024
Chromosome Location	chr16:82713874-82768568
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:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:82713256..82715722-chr16:82717588..82720342,2	MCF-7	breast:
2	chr16:82713256..82715722-chr16:82717588..82720342,2	MCF-7	breast:
3	chr16:82719977..82722521-chr16:82731834..82734582,2	MCF-7	breast:
4	chr16:82758028..82760301-chr16:82761456..82763834,2	K562	blood:
5	chr16:82717088..82721313-chr16:82721815..82725146,5	K562	blood:
6	chr16:82762397..82764526-chr16:82767820..82769912,2	MCF-7	breast:
7	chr16:82762397..82764526-chr16:82767820..82769912,2	MCF-7	breast:
8	chr16:82719977..82722521-chr16:82731834..82734582,2	MCF-7	breast:
9	chr16:82758028..82760301-chr16:82761456..82763834,2	K562	blood:
10	chr16:82722552..82724277-chr16:82729529..82732176,2	K562	blood:
11	chr16:82722552..82724277-chr16:82729529..82732176,2	K562	blood:
12	chr16:82717088..82721313-chr16:82721815..82725146,5	K562	blood:
13	chr16:82719231..82721190-chr16:82722242..82724688,2	K562	blood:
14	chr16:82719231..82721190-chr16:82722242..82724688,2	K562	blood:
15	chr16:82747264..82747918-chr8:126111551..126112155,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSD17B2-5	chr16:82756626-82756710	NONHSAT143992
2	lnc-HSD17B2-6	chr16:82761080-82761299	NONHSAT143993

miRNA name	Chromosome Location	mirBase accession
hsa-miR-8058	chr16:82722593-82722614	MIMAT0030985

No data

Extended variants
information (count: 3382 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:3382 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4081995	chr16:82713874-82713875	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141898229	chr16:82713883-82713884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533208148	chr16:82713928-82713929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551335142	chr16:82713929-82713930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150651849	chr16:82713930-82713931	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578121059	chr16:82713935-82713936	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371404917	chr16:82713970-82713971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561932156	chr16:82713974-82713975	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114004800	chr16:82713987-82713988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74468526	chr16:82714002-82714003	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567340827	chr16:82714018-82714019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116634745	chr16:82714020-82714021	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549753746	chr16:82714026-82714027	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569452049	chr16:82714059-82714060	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77261491	chr16:82714069-82714070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558104141	chr16:82714071-82714072	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7193551	chr16:82714078-82714079	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534106542	chr16:82714093-82714094	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555459115	chr16:82714095-82714096	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75184448	chr16:82714096-82714097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115852401	chr16:82714102-82714103	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190267681	chr16:82714132-82714133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556136313	chr16:82714133-82714134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371082567	chr16:82714151-82714152	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138801542	chr16:82714159-82714160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545272476	chr16:82714171-82714172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149358420	chr16:82714197-82714198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182896049	chr16:82714200-82714201	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542808773	chr16:82714220-82714221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147453437	chr16:82714225-82714226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374827990	chr16:82714229-82714230	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140625595	chr16:82714242-82714243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58217216	chr16:82714264-82714265	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144485906	chr16:82714266-82714267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571209369	chr16:82714280-82714281	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs5011320	chr16:82714296-82714297	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552075784	chr16:82714327-82714328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529110856	chr16:82714344-82714345	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375105770	chr16:82714355-82714356	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567021045	chr16:82714356-82714357	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147405584	chr16:82714358-82714359	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370075893	chr16:82714381-82714382	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555493819	chr16:82714413-82714414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187583215	chr16:82714428-82714429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71402031	chr16:82714448-82714449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556315633	chr16:82714467-82714468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139622330	chr16:82714493-82714494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191693069	chr16:82714501-82714502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554049684	chr16:82714504-82714505	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377236396	chr16:82714522-82714523	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82694200-82728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:82695400-82726600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr16:82699400-82716400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:82701000-82717000	Weak transcription	HSMMtube	muscle
5	chr16:82702800-82718600	Weak transcription	Fetal Muscle Leg	muscle
6	chr16:82706600-82716400	Weak transcription	HUVEC	blood vessel
7	chr16:82706600-82716800	Weak transcription	HMEC	breast
8	chr16:82709600-82714400	Weak transcription	Osteobl	bone
9	chr16:82709600-82714800	Weak transcription	Right Ventricle	heart
10	chr16:82709600-82716400	Weak transcription	Psoas Muscle	Psoas
11	chr16:82709600-82724200	Weak transcription	Aorta	Aorta
12	chr16:82709600-82728000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr16:82709800-82727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:82710000-82727200	Weak transcription	NH-A	brain
15	chr16:82711200-82718200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:82711400-82714200	Enhancers	Fetal Intestine Small	intestine
17	chr16:82712200-82718400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:82712600-82714000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:82712600-82715800	Enhancers	Left Ventricle	heart
20	chr16:82712600-82718200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:82712800-82715200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr16:82713000-82720600	Strong transcription	HSMM	muscle
23	chr16:82713200-82715000	Weak transcription	Fetal Intestine Large	intestine
24	chr16:82713200-82718000	Strong transcription	NHEK	skin
25	chr16:82713800-82716400	Weak transcription	Right Atrium	heart
26	chr16:82713800-82717000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr16:82714000-82716600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:82714200-82715200	Weak transcription	Fetal Intestine Small	intestine
29	chr16:82714800-82715800	Enhancers	Right Ventricle	heart
30	chr16:82715000-82717200	Enhancers	Fetal Intestine Large	intestine
31	chr16:82715200-82715600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:82715200-82715600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr16:82715200-82715600	Enhancers	Gastric	stomach
34	chr16:82715200-82717000	Enhancers	Fetal Heart	heart
35	chr16:82715200-82718600	Enhancers	Fetal Intestine Small	intestine
36	chr16:82715600-82716800	Enhancers	Duodenum Mucosa	Duodenum
37	chr16:82715800-82716200	Weak transcription	Right Ventricle	heart
38	chr16:82715800-82716400	Weak transcription	Left Ventricle	heart
39	chr16:82716200-82717000	Enhancers	Right Ventricle	heart
40	chr16:82716400-82716600	Enhancers	Psoas Muscle	Psoas
41	chr16:82716400-82716600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr16:82716400-82716600	Enhancers	HUVEC	blood vessel
43	chr16:82716400-82717000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:82716400-82717000	Enhancers	Small Intestine	intestine
45	chr16:82716400-82717200	Enhancers	Left Ventricle	heart
46	chr16:82716400-82717200	Enhancers	Right Atrium	heart
47	chr16:82716600-82718600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:82716600-82720600	Weak transcription	Psoas Muscle	Psoas
49	chr16:82716600-82721200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr16:82716800-82717200	Strong transcription	HMEC	breast

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