Variant report

Variant	esv3374148
Chromosome Location	chr16:79907351-79911649
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:79905342..79909928-chr16:79910179..79915093,7	K562	blood:
2	chr16:79896418..79898916-chr16:79909922..79912036,2	K562	blood:
3	chr16:79908657..79911589-chr16:79915100..79917663,2	K562	blood:
4	chr16:79905342..79909928-chr16:79910179..79915093,7	K562	blood:
5	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:
6	chr16:79902555..79905597-chr16:79906895..79909877,3	K562	blood:
7	chr16:79905011..79907588-chr16:79908993..79911788,2	MCF-7	breast:
8	chr16:79902555..79905597-chr16:79906895..79909877,5	K562	blood:

No data

Extended variants
information (count: 333 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113046928	chr16:79907351-79907352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35337373	chr16:79907364-79907365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544905798	chr16:79907397-79907398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202189730	chr16:79907428-79907429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556569418	chr16:79907429-79907430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138116051	chr16:79907443-79907444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141308699	chr16:79907449-79907450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536366115	chr16:79907450-79907451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560610956	chr16:79907455-79907456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528289907	chr16:79907506-79907507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182743995	chr16:79907522-79907523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74320024	chr16:79907527-79907528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74038074	chr16:79907539-79907540	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113136160	chr16:79907563-79907564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113813369	chr16:79907565-79907566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550481412	chr16:79907567-79907568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568489821	chr16:79907568-79907569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532798130	chr16:79907576-79907577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367668312	chr16:79907588-79907589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138857864	chr16:79907602-79907603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187869243	chr16:79907604-79907605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117890300	chr16:79907640-79907641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191815366	chr16:79907654-79907655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142591170	chr16:79907657-79907658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538135732	chr16:79907695-79907696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555803567	chr16:79907737-79907738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368636772	chr16:79907790-79907791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563686246	chr16:79907791-79907792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531121702	chr16:79907804-79907805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556930892	chr16:79907806-79907807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76223891	chr16:79907807-79907808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7203683	chr16:79907858-79907859	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545468184	chr16:79907866-79907867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112922819	chr16:79907870-79907871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538074403	chr16:79907875-79907876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13330024	chr16:79907901-79907902	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572411466	chr16:79907921-79907922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7203875	chr16:79907925-79907926	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs561701027	chr16:79907931-79907932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573806812	chr16:79907932-79907933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79718435	chr16:79907933-79907934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562482589	chr16:79907964-79907965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183326233	chr16:79908011-79908012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377524617	chr16:79908036-79908037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144767477	chr16:79908041-79908042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560102178	chr16:79908055-79908056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578227094	chr16:79908066-79908067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148275509	chr16:79908071-79908072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549090402	chr16:79908084-79908085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79053644	chr16:79908098-79908099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79904800-79911200	Weak transcription	Spleen	Spleen
2	chr16:79905200-79908000	Weak transcription	K562	blood
3	chr16:79907400-79909200	Enhancers	Duodenum Mucosa	Duodenum
4	chr16:79907600-79908800	Enhancers	NHEK	skin
5	chr16:79908000-79908800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:79908000-79910800	Enhancers	K562	blood
7	chr16:79908200-79908600	Enhancers	Liver	Liver
8	chr16:79908200-79908600	Enhancers	Fetal Muscle Trunk	muscle
9	chr16:79908200-79908600	Enhancers	Fetal Muscle Leg	muscle
10	chr16:79908200-79908600	Enhancers	Fetal Stomach	stomach
11	chr16:79908200-79908800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:79908200-79908800	Enhancers	HMEC	breast
13	chr16:79908200-79909000	Enhancers	Small Intestine	intestine
14	chr16:79908400-79908600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:79908400-79908800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:79908400-79908800	Enhancers	Right Atrium	heart
17	chr16:79908400-79909600	Enhancers	Esophagus	oesophagus
18	chr16:79908400-79910200	Enhancers	GM12878-XiMat	blood
19	chr16:79908800-79909400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:79908800-79909400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:79908800-79931400	Weak transcription	Right Atrium	heart
22	chr16:79909200-79910000	Enhancers	Fetal Lung	lung
23	chr16:79909600-79911200	Weak transcription	Esophagus	oesophagus
24	chr16:79910000-79910800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr16:79910000-79911000	Enhancers	Fetal Thymus	thymus
26	chr16:79910000-79915800	Weak transcription	Fetal Lung	lung
27	chr16:79910200-79910800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr16:79910200-79911000	Flanking Active TSS	GM12878-XiMat	blood
29	chr16:79910400-79910800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr16:79910400-79910800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr16:79910800-79914000	Weak transcription	K562	blood
32	chr16:79911000-79912200	Enhancers	GM12878-XiMat	blood
33	chr16:79911200-79911400	Enhancers	Esophagus	oesophagus
34	chr16:79911200-79911600	Enhancers	Spleen	Spleen

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