Variant report

Variant	esv275156
Chromosome Location	chr16:80666221-80672704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:80666218-80666527	IMR90	lung:	n/a	n/a
2	FOXA1	chr16:80671597-80671773	T-47D	breast:	n/a	n/a
3	FOXA1	chr16:80671552-80671837	T-47D	breast:	n/a	n/a
4	GATA3	chr16:80671489-80671932	T-47D	breast:	n/a	n/a
5	GATA3	chr16:80671621-80671835	MCF-7	breast:	n/a	n/a
6	GATA3	chr16:80671512-80671893	T-47D	breast:	n/a	n/a
7	GATA3	chr16:80671314-80672120	MCF-7	breast:	n/a	n/a
8	GATA3	chr16:80671446-80671865	MCF-7	breast:	n/a	n/a
9	POLR2A	chr16:80670775-80670932	Gliobla	brain:	n/a	n/a
10	POLR2A	chr16:80666990-80667220	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr16:80666974-80667015	Gliobla	brain:	n/a	n/a
12	POLR2A	chr16:80667304-80667373	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr16:80671391-80671466	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr16:80667302-80667387	MCF10A-Er-Src	breast:	n/a	n/a
15	ZNF217	chr16:80671566-80671766	MCF-7	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80654095..80656173-chr16:80667578..80669313,2	MCF-7	breast:
2	chr16:80657007..80659717-chr16:80664386..80666332,2	K562	blood:
3	chr16:80654063..80656286-chr16:80664938..80666580,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDYL2	TF binding region
ENSG00000260064	TF binding region

Extended variants
information (count: 487 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13333767	chr16:80666221-80666222	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538553173	chr16:80666235-80666236	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs560186840	chr16:80666236-80666237	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs13338587	chr16:80666268-80666269	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs578231524	chr16:80666270-80666271	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs13333789	chr16:80666307-80666308	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144106606	chr16:80666318-80666319	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531658273	chr16:80666351-80666352	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs147091125	chr16:80666369-80666370	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs572497656	chr16:80666374-80666375	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs77425982	chr16:80666379-80666380	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs191766485	chr16:80666382-80666383	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs531571875	chr16:80666388-80666389	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs9933575	chr16:80666402-80666403	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529177268	chr16:80666412-80666413	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs183776790	chr16:80666430-80666431	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs189285943	chr16:80666457-80666458	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs551552177	chr16:80666460-80666461	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs72302427	chr16:80666481-80666482	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs182218263	chr16:80666492-80666493	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs527389950	chr16:80666520-80666521	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs548769685	chr16:80666526-80666527	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs185811403	chr16:80666530-80666531	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112219227	chr16:80666547-80666548	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547632659	chr16:80666559-80666560	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549319179	chr16:80666560-80666561	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556928804	chr16:80666573-80666574	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571959371	chr16:80666584-80666585	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539284253	chr16:80666600-80666601	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74028350	chr16:80666617-80666618	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572503545	chr16:80666638-80666639	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543120468	chr16:80666656-80666657	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9921238	chr16:80666663-80666664	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138442372	chr16:80666666-80666667	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142656803	chr16:80666672-80666673	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561260649	chr16:80666691-80666692	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112074263	chr16:80666693-80666694	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190330921	chr16:80666694-80666695	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181683321	chr16:80666707-80666708	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9921314	chr16:80666727-80666728	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs527465624	chr16:80666729-80666730	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9940999	chr16:80666737-80666738	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs9941005	chr16:80666778-80666779	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs17824270	chr16:80666779-80666780	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114271315	chr16:80666813-80666814	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74028351	chr16:80666822-80666823	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs56713233	chr16:80666826-80666827	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547737225	chr16:80666827-80666828	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531788796	chr16:80666833-80666834	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536432427	chr16:80666839-80666840	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80630600-80668000	Weak transcription	Fetal Kidney	kidney
2	chr16:80640800-80669200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr16:80642200-80668200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:80646600-80687800	Weak transcription	Pancreas	Pancrea
5	chr16:80653200-80668200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr16:80653600-80666800	Weak transcription	Esophagus	oesophagus
7	chr16:80653600-80667400	Weak transcription	Fetal Stomach	stomach
8	chr16:80654400-80667800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr16:80654400-80668800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr16:80657200-80668000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:80658000-80667200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:80658000-80668200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:80658400-80666600	Weak transcription	HUVEC	blood vessel
14	chr16:80658800-80668200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:80660000-80668800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr16:80660200-80666800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr16:80661400-80667600	Strong transcription	Hela-S3	cervix
18	chr16:80661600-80666800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:80662200-80669000	Weak transcription	Brain Hippocampus Middle	brain
20	chr16:80662400-80668600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:80662600-80666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:80663000-80668400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr16:80663000-80669200	Weak transcription	Liver	Liver
24	chr16:80663200-80666600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr16:80663200-80667200	Strong transcription	Placenta	Placenta
26	chr16:80663200-80668600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr16:80663200-80690200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:80663400-80666600	Weak transcription	Lung	lung
29	chr16:80663400-80666600	Weak transcription	Spleen	Spleen
30	chr16:80663400-80668800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr16:80664200-80675800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr16:80665200-80668600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr16:80665400-80666600	Weak transcription	Aorta	Aorta
34	chr16:80665400-80666600	Weak transcription	Fetal Intestine Small	intestine
35	chr16:80665400-80677200	Weak transcription	Gastric	stomach
36	chr16:80665600-80667600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr16:80665800-80667000	Strong transcription	Adipose Nuclei	Adipose
38	chr16:80666000-80666600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr16:80666200-80666400	ZNF genes & repeats	Brain Substantia Nigra	brain
40	chr16:80666600-80667000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr16:80666600-80667000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr16:80666600-80667000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr16:80666600-80667000	ZNF genes & repeats	Lung	lung
44	chr16:80666600-80667000	Strong transcription	HUVEC	blood vessel
45	chr16:80666600-80667400	Strong transcription	Fetal Intestine Small	intestine
46	chr16:80666600-80667400	Strong transcription	Spleen	Spleen
47	chr16:80666600-80667600	ZNF genes & repeats	Aorta	Aorta
48	chr16:80666800-80667000	ZNF genes & repeats	Esophagus	oesophagus
49	chr16:80666800-80667400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr16:80667000-80667200	Weak transcription	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links