Variant report

Variant	nsv977997
Chromosome Location	chr16:71431497-71433168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71417315..71419268-chr16:71432309..71434011,2	K562	blood:
2	chr16:71425504..71427536-chr16:71429631..71432423,2	K562	blood:
3	chr16:71424613..71426717-chr16:71432993..71434718,2	K562	blood:

Variant related genes	Relation type
ENSG00000172137	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181951496	chr16:71431504-71431505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572954772	chr16:71431507-71431508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540004985	chr16:71431513-71431514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187410137	chr16:71431524-71431525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576757320	chr16:71431537-71431538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78637642	chr16:71431572-71431573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs891125	chr16:71431621-71431622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549216505	chr16:71431654-71431655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145789940	chr16:71431687-71431688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553154983	chr16:71431712-71431713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138701303	chr16:71431775-71431776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190390798	chr16:71431776-71431777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571845425	chr16:71431821-71431822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539385421	chr16:71431830-71431831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572948291	chr16:71431884-71431885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2018713	chr16:71431886-71431887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568767648	chr16:71431887-71431888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367648704	chr16:71431888-71431889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536198186	chr16:71431893-71431894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554388183	chr16:71431922-71431923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142774406	chr16:71431958-71431959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371764924	chr16:71431978-71431979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2018719	chr16:71432033-71432034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146982929	chr16:71432041-71432042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544111329	chr16:71432045-71432046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530657233	chr16:71432088-71432089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs891128	chr16:71432089-71432090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575574152	chr16:71432091-71432092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542975493	chr16:71432093-71432094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112639548	chr16:71432102-71432103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79456073	chr16:71432105-71432106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71153634	chr16:71432122-71432123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372005601	chr16:71432123-71432124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115440551	chr16:71432139-71432140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368722877	chr16:71432144-71432145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540724518	chr16:71432145-71432146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565518150	chr16:71432179-71432180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532710889	chr16:71432197-71432198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150580681	chr16:71432205-71432206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139640828	chr16:71432227-71432228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530312916	chr16:71432236-71432237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548196244	chr16:71432240-71432241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566343622	chr16:71432252-71432253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113461458	chr16:71432284-71432285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs891129	chr16:71432285-71432286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533682105	chr16:71432287-71432288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558191394	chr16:71432289-71432290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77577062	chr16:71432345-71432346	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543844726	chr16:71432379-71432380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537625396	chr16:71432382-71432383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71424200-71436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:71432400-71432600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr16:71432600-71433200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr16:71432600-71434400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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