Variant report

Variant	nsv907025
Chromosome Location	chr16:82718030-82768568
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

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

(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: 3119 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:3119 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8055389	chr16:82718030-82718031	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139548775	chr16:82718037-82718038	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576007110	chr16:82718054-82718055	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543447401	chr16:82718082-82718083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564712134	chr16:82718094-82718095	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190482692	chr16:82718097-82718098	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547310081	chr16:82718104-82718105	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560382190	chr16:82718106-82718107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527892444	chr16:82718115-82718116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111643186	chr16:82718121-82718122	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567795793	chr16:82718141-82718142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192576317	chr16:82718171-82718172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375755021	chr16:82718178-82718179	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377731132	chr16:82718182-82718183	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185011252	chr16:82718197-82718198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571526094	chr16:82718200-82718201	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539002971	chr16:82718201-82718202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141739233	chr16:82718208-82718209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565669113	chr16:82718209-82718210	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539451035	chr16:82718258-82718259	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565939600	chr16:82718290-82718291	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188216050	chr16:82718299-82718300	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536453652	chr16:82718304-82718305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554463494	chr16:82718320-82718321	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557543995	chr16:82718334-82718335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146227549	chr16:82718353-82718354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543131435	chr16:82718393-82718394	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558594246	chr16:82718460-82718461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139176605	chr16:82718493-82718494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181013033	chr16:82718503-82718504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185683265	chr16:82718534-82718535	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144008058	chr16:82718535-82718536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542852080	chr16:82718536-82718537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561306075	chr16:82718553-82718554	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375180694	chr16:82718556-82718557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs386793110	chr16:82718557-82718558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531858749	chr16:82718558-82718559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189577773	chr16:82718588-82718589	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571679351	chr16:82718593-82718594	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181630563	chr16:82718610-82718611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144875381	chr16:82718636-82718637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148802814	chr16:82718640-82718641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375256064	chr16:82718677-82718678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532593985	chr16:82718699-82718700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12599112	chr16:82718711-82718712	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs17179911	chr16:82718735-82718736	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs186812455	chr16:82718757-82718758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62036329	chr16:82718767-82718768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576485728	chr16:82718777-82718778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12051437	chr16:82718818-82718819	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	chr16:82702800-82718600	Weak transcription	Fetal Muscle Leg	muscle
4	chr16:82709600-82724200	Weak transcription	Aorta	Aorta
5	chr16:82709600-82728000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr16:82709800-82727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:82710000-82727200	Weak transcription	NH-A	brain
8	chr16:82711200-82718200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:82712200-82718400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:82712600-82718200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:82713000-82720600	Strong transcription	HSMM	muscle
12	chr16:82715200-82718600	Enhancers	Fetal Intestine Small	intestine
13	chr16:82716600-82718600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:82716600-82720600	Weak transcription	Psoas Muscle	Psoas
15	chr16:82716600-82721200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr16:82717000-82718200	Strong transcription	HSMMtube	muscle
17	chr16:82717000-82719200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:82717000-82721200	Weak transcription	Right Ventricle	heart
19	chr16:82717200-82721400	Weak transcription	Left Ventricle	heart
20	chr16:82717200-82722400	Weak transcription	Fetal Intestine Large	intestine
21	chr16:82717200-82726600	Weak transcription	HMEC	breast
22	chr16:82717600-82721200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr16:82718000-82726400	Weak transcription	NHEK	skin
24	chr16:82718200-82719200	Weak transcription	HSMMtube	muscle
25	chr16:82718200-82720400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:82718200-82721400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:82718400-82720000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:82718600-82719200	Weak transcription	Fetal Intestine Small	intestine
29	chr16:82718600-82720400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr16:82719200-82719400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:82719200-82719400	Enhancers	Fetal Intestine Small	intestine
32	chr16:82719200-82719600	Enhancers	HSMMtube	muscle
33	chr16:82719200-82720000	Enhancers	Thymus	Thymus
34	chr16:82719400-82723000	Weak transcription	Fetal Intestine Small	intestine
35	chr16:82719400-82728600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:82719600-82727200	Weak transcription	HSMMtube	muscle
37	chr16:82720000-82722600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:82720400-82722000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr16:82720400-82722200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:82720600-82721000	Enhancers	Psoas Muscle	Psoas
41	chr16:82720600-82724200	Weak transcription	HSMM	muscle
42	chr16:82721000-82721600	Weak transcription	Psoas Muscle	Psoas
43	chr16:82721200-82721800	Enhancers	Right Ventricle	heart
44	chr16:82721200-82722000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr16:82721200-82722200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr16:82721400-82722000	Enhancers	Left Ventricle	heart
47	chr16:82721400-82724800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:82721600-82722600	Enhancers	Psoas Muscle	Psoas
49	chr16:82721800-82728400	Weak transcription	Right Ventricle	heart
50	chr16:82722000-82726600	Weak transcription	Left Ventricle	heart

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