Variant report

Variant	esv3405164
Chromosome Location	chr16:79754351-79759149
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:5)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:79757670..79760367-chr16:79760765..79762545,2	K562	blood:
2	chr16:79757085..79759358-chr16:79764740..79767678,2	K562	blood:
3	chr16:79757858..79761276-chr16:79764812..79767945,3	K562	blood:
4	chr16:79748215..79750432-chr16:79755525..79757544,2	MCF-7	breast:
5	chr16:79757405..79759517-chr16:79760609..79762850,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAF-2	chr16:79755372-79755518	XLOC_012017
2	lnc-MAF-2	chr16:79755372-79755518	XLOC_012017
3	lnc-MAF-2	chr16:79755209-79755518	ENSG00000261390.1
4	lnc-WWOX-2	chr16:79757502-79757613	NONHSAT143865
5	lnc-MAF-2	chr16:79755372-79755518	XLOC_012017
6	lnc-MAF-2	chr16:79755372-79755518	XLOC_012017

No data

Variant related genes	Relation type
MTUS1	miRNA target sites

Extended variants
information (count: 278 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72808577	chr16:79754362-79754363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191026918	chr16:79754395-79754396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560097161	chr16:79754425-79754426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530068328	chr16:79754432-79754433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370128842	chr16:79754434-79754435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs386792694	chr16:79754439-79754440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200293726	chr16:79754440-79754441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570130626	chr16:79754464-79754465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531019197	chr16:79754467-79754468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139282536	chr16:79754482-79754483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571411563	chr16:79754484-79754485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538466570	chr16:79754496-79754497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553605529	chr16:79754508-79754509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565661596	chr16:79754521-79754522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371261635	chr16:79754535-79754536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535813699	chr16:79754541-79754542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544983869	chr16:79754546-79754547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547017019	chr16:79754551-79754552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554131003	chr16:79754556-79754557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182055924	chr16:79754606-79754607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373984852	chr16:79754613-79754614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543498200	chr16:79754664-79754665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558407880	chr16:79754712-79754713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577325691	chr16:79754747-79754748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147542056	chr16:79754761-79754762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186466440	chr16:79754771-79754772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575225593	chr16:79754780-79754781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112716086	chr16:79754789-79754790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542574447	chr16:79754810-79754811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191405776	chr16:79754827-79754828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148573812	chr16:79754851-79754852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201196500	chr16:79754862-79754863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377213658	chr16:79754876-79754877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183766531	chr16:79754883-79754884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187853750	chr16:79754899-79754900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80230143	chr16:79754910-79754911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532308226	chr16:79754927-79754928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567167351	chr16:79754941-79754942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116376570	chr16:79754959-79754960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547206604	chr16:79754984-79754985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368199094	chr16:79754993-79754994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3841325	chr16:79755011-79755012	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397690714	chr16:79755017-79755018	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77568097	chr16:79755018-79755019	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115692469	chr16:79755034-79755035	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372017757	chr16:79755038-79755039	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543486396	chr16:79755040-79755041	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62043339	chr16:79755054-79755055	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs548122231	chr16:79755076-79755077	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3813583	chr16:79755080-79755081	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:68)

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
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	21865298	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79748000-79756200	Weak transcription	Gastric	stomach
2	chr16:79748200-79760400	Enhancers	Fetal Intestine Small	intestine
3	chr16:79748400-79760800	Enhancers	Fetal Intestine Large	intestine
4	chr16:79749000-79754800	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:79749800-79754400	Weak transcription	Liver	Liver
6	chr16:79749800-79754800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:79749800-79756400	Weak transcription	Stomach Mucosa	stomach
8	chr16:79750800-79754600	Weak transcription	Ovary	ovary
9	chr16:79751000-79755200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:79751600-79755400	Weak transcription	Aorta	Aorta
11	chr16:79751600-79755800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr16:79752000-79755200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr16:79752000-79755600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr16:79752000-79755800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr16:79752000-79756000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:79752000-79757400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:79752200-79754400	Weak transcription	Fetal Kidney	kidney
18	chr16:79752200-79754600	Weak transcription	Fetal Lung	lung
19	chr16:79752200-79755200	Weak transcription	Fetal Muscle Leg	muscle
20	chr16:79752200-79756400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr16:79752400-79757600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:79752800-79757800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:79754000-79754400	Enhancers	Small Intestine	intestine
24	chr16:79754000-79759600	Enhancers	Duodenum Mucosa	Duodenum
25	chr16:79754200-79754400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr16:79754400-79754800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr16:79754400-79756200	Enhancers	Liver	Liver
28	chr16:79754400-79756600	Enhancers	Fetal Kidney	kidney
29	chr16:79754600-79756000	Enhancers	Fetal Lung	lung
30	chr16:79754600-79756800	Enhancers	Ovary	ovary
31	chr16:79754800-79755000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr16:79754800-79755800	Enhancers	Rectal Smooth Muscle	rectum
33	chr16:79754800-79756000	Enhancers	Fetal Stomach	stomach
34	chr16:79754800-79756000	Enhancers	Stomach Smooth Muscle	stomach
35	chr16:79754800-79756200	Enhancers	Colon Smooth Muscle	Colon
36	chr16:79754800-79756600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr16:79755000-79755400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr16:79755200-79755400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr16:79755200-79755600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:79755200-79756400	Enhancers	Fetal Muscle Leg	muscle
41	chr16:79755400-79755600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:79755400-79755600	Enhancers	Aorta	Aorta
43	chr16:79755400-79757200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:79755600-79756600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr16:79755800-79756400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr16:79755800-79756600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr16:79756000-79756400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr16:79756000-79758600	Weak transcription	Fetal Lung	lung
49	chr16:79756200-79756600	Flanking Active TSS	Liver	Liver
50	chr16:79756200-79757400	Enhancers	Gastric	stomach

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