Variant report

Variant	esv3527583
Chromosome Location	chr16:82076921-82077349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82076564..82079746-chr16:82084157..82087056,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574050906	chr16:82076928-82076929	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560391262	chr16:82076936-82076937	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544699468	chr16:82076943-82076944	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562791903	chr16:82076986-82076987	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117961488	chr16:82077005-82077006	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370270272	chr16:82077007-82077008	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551325089	chr16:82077008-82077009	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559898732	chr16:82077009-82077010	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527608751	chr16:82077010-82077011	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548837266	chr16:82077011-82077012	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183787018	chr16:82077038-82077039	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537396764	chr16:82077065-82077066	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549748326	chr16:82077146-82077147	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372362815	chr16:82077206-82077207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370522714	chr16:82077289-82077290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111849965	chr16:82077303-82077304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs398030034	chr16:82077319-82077320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13337293	chr16:82077336-82077337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82067400-82077000	Weak transcription	Right Atrium	heart
2	chr16:82068800-82077400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:82069200-82077400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:82070200-82083400	Weak transcription	Colonic Mucosa	Colon
5	chr16:82070800-82081200	Weak transcription	Pancreas	Pancrea
6	chr16:82071800-82077800	Weak transcription	Stomach Mucosa	stomach
7	chr16:82072800-82077800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:82072800-82077800	Enhancers	Liver	Liver
9	chr16:82072800-82077800	Weak transcription	Gastric	stomach
10	chr16:82072800-82077800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr16:82074200-82078400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:82074200-82085600	Enhancers	HepG2	liver
13	chr16:82074600-82078000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:82075000-82077200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:82075200-82077800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:82075200-82082400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:82075600-82077400	Weak transcription	NHEK	skin
18	chr16:82075800-82078400	Enhancers	NHLF	lung
19	chr16:82076000-82077000	Enhancers	Placenta	Placenta
20	chr16:82076000-82077400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:82076000-82077400	Weak transcription	HMEC	breast
22	chr16:82076000-82078000	Weak transcription	Small Intestine	intestine
23	chr16:82076200-82078000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr16:82076400-82078600	Enhancers	NH-A	brain
25	chr16:82076400-82079800	Enhancers	Fetal Lung	lung
26	chr16:82076600-82077200	Genic enhancers	Fetal Intestine Small	intestine
27	chr16:82076600-82077200	Enhancers	NHDF-Ad	bronchial
28	chr16:82076600-82077800	Enhancers	Duodenum Mucosa	Duodenum
29	chr16:82076600-82078400	Enhancers	HSMMtube	muscle
30	chr16:82076600-82078600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr16:82076600-82079000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:82076600-82079600	Enhancers	Fetal Stomach	stomach
33	chr16:82076600-82094800	Enhancers	Fetal Intestine Large	intestine
34	chr16:82076800-82077000	Enhancers	Lung	lung
35	chr16:82076800-82077200	Weak transcription	Fetal Kidney	kidney
36	chr16:82076800-82077800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:82077000-82079200	Weak transcription	Placenta	Placenta
38	chr16:82077000-82083800	Weak transcription	Lung	lung
39	chr16:82077200-82077600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:82077200-82077600	Weak transcription	NHDF-Ad	bronchial
41	chr16:82077200-82078600	Enhancers	Fetal Kidney	kidney
42	chr16:82077200-82079800	Enhancers	Fetal Intestine Small	intestine

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