Variant report

Variant	esv10393
Chromosome Location	chr16:80702889-80705178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr16:80705138-80705797	GM12878	blood:	n/a	n/a
2	MAFF	chr16:80705171-80705371	HepG2	liver:	n/a	n/a
3	MAFK	chr16:80705147-80705296	IMR90	lung:	n/a	n/a
4	MAFK	chr16:80705077-80705400	HepG2	liver:	n/a	n/a
5	MAFK	chr16:80705071-80705397	HepG2	liver:	n/a	n/a
6	MTA3	chr16:80703641-80704118	GM12878	blood:	n/a	n/a
7	MTA3	chr16:80705064-80705857	GM12878	blood:	n/a	n/a
8	NFIC	chr16:80704020-80704547	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:80703072-80703465	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr16:80704563-80704677	Hela-S3	cervix:	n/a	n/a
11	RUNX3	chr16:80704045-80704453	GM12878	blood:	n/a	n/a
12	RUNX3	chr16:80705103-80705770	GM12878	blood:	n/a	n/a
13	RUNX3	chr16:80705101-80705685	GM12878	blood:	n/a	n/a
14	RUNX3	chr16:80703858-80704504	GM12878	blood:	n/a	n/a
15	SPI1	chr16:80704054-80704407	GM12891	blood:	n/a	n/a
16	SPI1	chr16:80704145-80704402	GM12878	blood:	n/a	n/a
17	SPI1	chr16:80704182-80704363	GM12891	blood:	n/a	n/a
18	YY1	chr16:80704143-80704486	GM12878	blood:	n/a	n/a
19	YY1	chr16:80704147-80704467	GM12878	blood:	n/a	n/a
20	YY1	chr16:80704165-80704464	GM12891	blood:	n/a	n/a
21	YY1	chr16:80704137-80704444	GM12892	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80702290..80705033-chr16:80707661..80710306,2	MCF-7	breast:
2	chr16:80695632..80702044-chr16:80703955..80710409,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265341	TF binding region
ENSG00000265341	chromatin interactions

Extended variants
information (count: 137 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578088650	chr16:80702926-80702927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545268205	chr16:80702941-80702942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560353531	chr16:80702971-80702972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527962423	chr16:80702974-80702975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11643733	chr16:80702976-80702977	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141414044	chr16:80702982-80702983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56776891	chr16:80702991-80702992	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138494456	chr16:80703024-80703025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72806171	chr16:80703029-80703030	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs369175946	chr16:80703055-80703056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372507604	chr16:80703085-80703086	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs532276572	chr16:80703087-80703088	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs547600678	chr16:80703105-80703106	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs571360541	chr16:80703122-80703123	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs375088471	chr16:80703138-80703139	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs561595780	chr16:80703242-80703243	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs548516647	chr16:80703252-80703253	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs186141816	chr16:80703275-80703276	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs138218771	chr16:80703301-80703302	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs556566540	chr16:80703360-80703361	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs578026598	chr16:80703371-80703372	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs538781000	chr16:80703403-80703404	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537212329	chr16:80703416-80703417	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs17752269	chr16:80703436-80703437	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs149581228	chr16:80703466-80703467	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542872785	chr16:80703475-80703476	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561250067	chr16:80703486-80703487	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574012155	chr16:80703487-80703488	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576723564	chr16:80703505-80703506	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117179270	chr16:80703516-80703517	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375813857	chr16:80703522-80703523	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564931525	chr16:80703534-80703535	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146246893	chr16:80703554-80703555	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547535050	chr16:80703566-80703567	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73583690	chr16:80703576-80703577	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553042708	chr16:80703582-80703583	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574526942	chr16:80703604-80703605	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189056805	chr16:80703654-80703655	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs11859496	chr16:80703692-80703693	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139285689	chr16:80703704-80703705	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs116510310	chr16:80703724-80703725	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs113350971	chr16:80703727-80703728	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs538714820	chr16:80703740-80703741	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs553859525	chr16:80703747-80703748	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs372479886	chr16:80703752-80703753	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs11863297	chr16:80703757-80703758	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536444407	chr16:80703769-80703770	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs542043712	chr16:80703771-80703772	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs576652133	chr16:80703773-80703774	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs532634156	chr16:80703789-80703790	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription	TF binding region	1 gene(s)	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
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

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80674400-80707600	Weak transcription	Placenta	Placenta
2	chr16:80687000-80716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:80689000-80751000	Weak transcription	Pancreas	Pancrea
4	chr16:80690600-80728000	Weak transcription	Gastric	stomach
5	chr16:80690800-80703200	Weak transcription	Esophagus	oesophagus
6	chr16:80691000-80704400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr16:80695600-80703200	Weak transcription	Lung	lung
8	chr16:80696600-80705200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:80698800-80703400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr16:80699400-80723000	Weak transcription	HUVEC	blood vessel
11	chr16:80701200-80705200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:80701200-80706400	Strong transcription	Hela-S3	cervix
13	chr16:80701400-80704000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr16:80701400-80704600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:80701400-80705000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:80701400-80705200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr16:80701600-80705000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:80701600-80705000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr16:80701600-80717800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr16:80702200-80705200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:80702600-80704400	Weak transcription	Fetal Intestine Small	intestine
22	chr16:80703200-80703400	Enhancers	Esophagus	oesophagus
23	chr16:80703200-80703800	ZNF genes & repeats	Lung	lung
24	chr16:80703200-80707000	Enhancers	Primary B cells from peripheral blood	blood
25	chr16:80703400-80703800	Enhancers	Spleen	Spleen
26	chr16:80703400-80704000	Bivalent Enhancer	Primary B cells from cord blood	blood
27	chr16:80703400-80705000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
28	chr16:80703400-80723400	Weak transcription	Esophagus	oesophagus
29	chr16:80703600-80704000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr16:80703600-80704600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr16:80703800-80704400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
32	chr16:80703800-80704600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr16:80703800-80704600	Weak transcription	Spleen	Spleen
34	chr16:80703800-80705200	Enhancers	GM12878-XiMat	blood
35	chr16:80703800-80713600	Weak transcription	Lung	lung
36	chr16:80704000-80705000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr16:80704000-80706600	Enhancers	Primary B cells from cord blood	blood
38	chr16:80704400-80704800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr16:80704400-80704800	Strong transcription	Fetal Intestine Small	intestine
40	chr16:80704400-80711400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr16:80704600-80705000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr16:80704600-80705400	Enhancers	Spleen	Spleen
43	chr16:80704600-80705600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:80704600-80706000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr16:80704600-80721000	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr16:80704800-80707800	Weak transcription	Fetal Intestine Small	intestine
47	chr16:80705000-80705200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr16:80705000-80705400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr16:80705000-80705600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr16:80705000-80705600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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