Variant report

Variant	esv3442266
Chromosome Location	chr16:82820085-82821469
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60428571	chr16:82820087-82820088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201596872	chr16:82820098-82820099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541569351	chr16:82820101-82820102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147840426	chr16:82820102-82820103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532703728	chr16:82820105-82820106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567714348	chr16:82820110-82820111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61029619	chr16:82820117-82820118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532217145	chr16:82820125-82820126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374656188	chr16:82820179-82820180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113436691	chr16:82820206-82820207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187142827	chr16:82820209-82820210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113708054	chr16:82820210-82820211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59217991	chr16:82820244-82820245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112408449	chr16:82820245-82820246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531966663	chr16:82820261-82820262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113157972	chr16:82820262-82820263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371404738	chr16:82820267-82820268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557339365	chr16:82820276-82820277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571684956	chr16:82820303-82820304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386793123	chr16:82820315-82820316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111397798	chr16:82820316-82820317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12919538	chr16:82820317-82820318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565739351	chr16:82820330-82820331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536210342	chr16:82820355-82820356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571001923	chr16:82820356-82820357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554464185	chr16:82820368-82820369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190736283	chr16:82820374-82820375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571846796	chr16:82820407-82820408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373559751	chr16:82820424-82820425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182198702	chr16:82820433-82820434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369563496	chr16:82820459-82820460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541121433	chr16:82820467-82820468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373885125	chr16:82820476-82820477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184934106	chr16:82820486-82820487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529732714	chr16:82820530-82820531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200317654	chr16:82820537-82820538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149657561	chr16:82820542-82820543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145877758	chr16:82820550-82820551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550149244	chr16:82820558-82820559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148574064	chr16:82820575-82820576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532550525	chr16:82820589-82820590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547501204	chr16:82820609-82820610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12932553	chr16:82820632-82820633	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs536274838	chr16:82820656-82820657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554527230	chr16:82820682-82820683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569654475	chr16:82820694-82820695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576273397	chr16:82820715-82820716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16958625	chr16:82820727-82820728	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189743500	chr16:82820730-82820731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558522779	chr16:82820731-82820732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Adrenocortical carcinoma	18281524	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82805600-82821600	Weak transcription	NHEK	skin
2	chr16:82808000-82824800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:82810600-82834800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr16:82810800-82821400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:82812000-82821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr16:82815800-82821800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:82815800-82834600	Weak transcription	HUVEC	blood vessel
8	chr16:82817000-82821600	Weak transcription	HSMMtube	muscle
9	chr16:82817200-82821600	Weak transcription	HSMM	muscle
10	chr16:82817200-82821800	Weak transcription	Right Atrium	heart
11	chr16:82817200-82838800	Weak transcription	Psoas Muscle	Psoas
12	chr16:82817400-82821800	Weak transcription	NHLF	lung
13	chr16:82817400-82822000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:82817400-82822000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr16:82817800-82828200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:82818000-82828800	Weak transcription	Right Ventricle	heart
17	chr16:82818400-82839600	Weak transcription	Aorta	Aorta
18	chr16:82818600-82821000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:82818600-82821800	Weak transcription	Left Ventricle	heart
20	chr16:82818800-82821600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:82819000-82820400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:82819000-82821400	Weak transcription	HMEC	breast
23	chr16:82819600-82829200	Weak transcription	Fetal Muscle Leg	muscle
24	chr16:82819600-82833800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:82819800-82822000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr16:82820200-82838600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:82820400-82826600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:82821000-82826800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:82821400-82823000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr16:82821400-82823200	Strong transcription	HMEC	breast

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