Variant report

Variant	nsv978166
Chromosome Location	chr16:71882680-71886018
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71884164..71890391-chr16:71916479..71919375,6	K562	blood:
2	chr16:71883597..71885212-chr16:71917738..71919804,2	MCF-7	breast:
3	chr16:71881961..71883850-chr16:71918320..71920311,2	MCF-7	breast:
4	chr16:71883276..71884915-chr16:71893222..71894749,2	MCF-7	breast:
5	chr16:71884897..71886779-chr16:71887255..71889485,3	MCF-7	breast:
6	chr16:71841492..71844076-chr16:71882492..71884911,2	MCF-7	breast:
7	chr16:71884375..71886145-chr16:71899843..71902432,2	K562	blood:
8	chr16:71879516..71883331-chr16:71913609..71918904,8	MCF-7	breast:
9	chr16:71840076..71845074-chr16:71882668..71886861,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166747	chromatin interactions
ENSG00000102984	chromatin interactions
ENSG00000261765	chromatin interactions
ENSG00000182149	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550922562	chr16:71882800-71882801	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs573722799	chr16:71882850-71882851	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs113584314	chr16:71882860-71882861	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs553432705	chr16:71882869-71882870	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs578094939	chr16:71882881-71882882	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs545278252	chr16:71882942-71882943	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs145887428	chr16:71882951-71882952	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs536413818	chr16:71882999-71883000	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs35299042	chr16:71883001-71883002	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs563347686	chr16:71883042-71883043	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs71386937	chr16:71883048-71883049	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs575427235	chr16:71883049-71883050	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs191141302	chr16:71883057-71883058	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs35054848	chr16:71883073-71883074	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs377525889	chr16:71883118-71883119	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs386385029	chr16:71883119-71883120	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs71153674	chr16:71883145-71883146	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs141818649	chr16:71883160-71883161	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs373428895	chr16:71883170-71883171	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs570856450	chr16:71883210-71883211	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs546832077	chr16:71883223-71883224	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs565035682	chr16:71883241-71883242	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs532306035	chr16:71883248-71883249	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs192403549	chr16:71883266-71883267	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs9928365	chr16:71883271-71883272	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs530887816	chr16:71883302-71883303	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs549111719	chr16:71883449-71883450	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs538533922	chr16:71883506-71883507	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs12597986	chr16:71883520-71883521	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs567314284	chr16:71883599-71883600	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs150193939	chr16:71883603-71883604	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs367915973	chr16:71883608-71883609	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs553586684	chr16:71883626-71883627	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs571872583	chr16:71883627-71883628	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs558857589	chr16:71883654-71883655	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs370166513	chr16:71883666-71883667	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs139110049	chr16:71883703-71883704	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs557574855	chr16:71883704-71883705	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs575938905	chr16:71883733-71883734	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs373934062	chr16:71883739-71883740	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs201322365	chr16:71883828-71883829	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs377590320	chr16:71883853-71883854	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs62056495	chr16:71883913-71883914	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs554712997	chr16:71883933-71883934	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs183362463	chr16:71883934-71883935	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs143123694	chr16:71883937-71883938	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs565152293	chr16:71883964-71883965	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs532286720	chr16:71883968-71883969	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs373587350	chr16:71883969-71883970	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs368965014	chr16:71883981-71883982	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71880800-71882800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:71881000-71902200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:71881200-71882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:71881200-71882800	Weak transcription	Gastric	stomach
5	chr16:71881200-71882800	Weak transcription	Ovary	ovary
6	chr16:71881200-71883200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:71881200-71883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:71881200-71883200	Weak transcription	Brain Substantia Nigra	brain
9	chr16:71881200-71883200	Weak transcription	Pancreas	Pancrea
10	chr16:71881200-71883200	Weak transcription	Right Ventricle	heart
11	chr16:71881200-71883800	Weak transcription	Fetal Lung	lung
12	chr16:71881200-71889400	Weak transcription	Psoas Muscle	Psoas
13	chr16:71881200-71916600	Weak transcription	Small Intestine	intestine
14	chr16:71881400-71882800	Weak transcription	Fetal Intestine Small	intestine
15	chr16:71881400-71883000	Weak transcription	HSMMtube	muscle
16	chr16:71881400-71883200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr16:71881400-71883400	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:71881600-71882800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:71881600-71883000	Weak transcription	HMEC	breast
20	chr16:71881600-71883200	Weak transcription	NHLF	lung
21	chr16:71881600-71883600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr16:71881600-71885600	Weak transcription	Fetal Brain Male	brain
23	chr16:71881600-71887200	Weak transcription	Fetal Heart	heart
24	chr16:71881800-71882800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr16:71881800-71883600	Strong transcription	Hela-S3	cervix
26	chr16:71881800-71884800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
27	chr16:71881800-71885000	Strong transcription	Adipose Nuclei	Adipose
28	chr16:71881800-71885200	Strong transcription	NHDF-Ad	bronchial
29	chr16:71881800-71885400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr16:71881800-71886000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr16:71881800-71886000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr16:71881800-71886600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr16:71881800-71886600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:71881800-71887000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:71881800-71887200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr16:71881800-71887200	Strong transcription	Primary T cells from cord blood	blood
37	chr16:71881800-71887200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:71881800-71887400	Strong transcription	Fetal Intestine Large	intestine
39	chr16:71881800-71887800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:71881800-71887800	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr16:71881800-71888000	Strong transcription	NHEK	skin
42	chr16:71881800-71889200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr16:71881800-71890000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr16:71881800-71890200	Strong transcription	Placenta	Placenta
45	chr16:71881800-71890200	Strong transcription	Osteobl	bone
46	chr16:71881800-71890400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:71881800-71890800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr16:71881800-71890800	Strong transcription	Fetal Muscle Leg	muscle
49	chr16:71881800-71895800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:71881800-71897000	Strong transcription	Monocytes-CD14+_RO01746	blood

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