Variant report

Variant	esv3371590
Chromosome Location	chr16:46947351-46951849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr16:46950934-46951142	K562	blood:	n/a	n/a
2	CEBPB	chr16:46950965-46951165	K562	blood:	n/a	n/a
3	CHD2	chr16:46951048-46951088	K562	blood:	n/a	n/a
4	CTCF	chr16:46951000-46951150	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr16:46949502-46949683	GM19239	blood:	n/a	n/a
6	CTCF	chr16:46949778-46949944	GM19239	blood:	n/a	n/a
7	CTCF	chr16:46949249-46949482	GM19239	blood:	n/a	n/a
8	FOSL2	chr16:46949118-46950026	HepG2	liver:	n/a	n/a
9	MAX	chr16:46950991-46951135	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr16:46949475-46949549	MCF-7	breast:	n/a	n/a
11	MYC	chr16:46949350-46949424	H1-hESC	embryonic stem cell:	n/a	n/a
12	NFYA	chr16:46951114-46951161	Hela-S3	cervix:	n/a	n/a
13	NFYB	chr16:46951003-46951204	Hela-S3	cervix:	n/a	chr16:46951066-46951081
14	NFYB	chr16:46951006-46951248	GM12878	blood:	n/a	chr16:46951066-46951081
15	NFYB	chr16:46950867-46951323	K562	blood:	n/a	chr16:46951066-46951081
16	POLR2A	chr16:46950514-46950759	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:46949805-46949916	MCF-7	breast:	n/a	n/a
18	POLR2A	chr16:46947863-46948352	HepG2	liver:	n/a	n/a
19	POLR2A	chr16:46948439-46948634	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:46949725-46949920	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr16:46951765-46951778	HepG2	liver:	n/a	n/a
22	POLR2A	chr16:46948809-46949319	K562	blood:	n/a	n/a
23	POLR2A	chr16:46950503-46951186	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:46948587-46948809	HepG2	liver:	n/a	n/a
25	POLR2A	chr16:46949219-46950027	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:46949052-46949967	HL-60	blood:	n/a	n/a
27	POLR2A	chr16:46947359-46947444	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:46946531-46947586	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:46947733-46948137	HepG2	liver:	n/a	n/a
30	POLR2A	chr16:46948579-46948678	HepG2	liver:	n/a	n/a
31	POLR2A	chr16:46951196-46951613	K562	blood:	n/a	n/a
32	POLR2A	chr16:46949318-46949574	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr16:46949000-46950022	HepG2	liver:	n/a	n/a
34	POLR2A	chr16:46949393-46949506	MCF-7	breast:	n/a	n/a
35	POLR2A	chr16:46950023-46950100	K562	blood:	n/a	n/a
36	POLR2A	chr16:46949007-46949964	HepG2	liver:	n/a	n/a
37	POLR2A	chr16:46949326-46949441	K562	blood:	n/a	n/a
38	POLR2A	chr16:46951549-46951736	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr16:46949073-46949905	HepG2	liver:	n/a	n/a
40	POLR2A	chr16:46949126-46949929	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr16:46949693-46949725	MCF-7	breast:	n/a	n/a
42	POLR2A	chr16:46951155-46967607	HepG2	liver:	n/a	n/a
43	POLR2A	chr16:46950401-46951140	HepG2	liver:	n/a	n/a
44	POLR2A	chr16:46949730-46949895	MCF-7	breast:	n/a	n/a
45	POLR2A	chr16:46950352-46950621	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr16:46949250-46949296	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr16:46948331-46948527	K562	blood:	n/a	n/a
48	POLR2A	chr16:46950354-46951165	HepG2	liver:	n/a	n/a
49	POLR2A	chr16:46947436-46947713	K562	blood:	n/a	n/a
50	POLR2A	chr16:46949270-46949482	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46951055..46952888-chr16:46955972..46959090,3	K562	blood:
2	chr16:46933814..46935655-chr16:46950387..46952278,2	MCF-7	breast:

No data

Variant related genes	Relation type
GPT2	TF binding region
ENSG00000166123	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369439886	chr16:46947368-46947369	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs191816027	chr16:46947375-46947376	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs548035320	chr16:46947384-46947385	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs184358493	chr16:46947469-46947470	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs533643130	chr16:46947554-46947555	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs552274695	chr16:46947595-46947596	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs570097364	chr16:46947613-46947614	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs568274915	chr16:46947653-46947654	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs139532893	chr16:46947654-46947655	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs145402689	chr16:46947680-46947681	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200613263	chr16:46947684-46947685	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs537411911	chr16:46947704-46947705	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs189246068	chr16:46947720-46947721	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs555760317	chr16:46947723-46947724	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs575484810	chr16:46947749-46947750	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs536962152	chr16:46947761-46947762	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs554853514	chr16:46947806-46947807	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs573430213	chr16:46947821-46947822	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs540350244	chr16:46947882-46947883	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs141477401	chr16:46947895-46947896	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs373633372	chr16:46947900-46947901	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs373960103	chr16:46947974-46947975	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs577431015	chr16:46947975-46947976	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs116566325	chr16:46948013-46948014	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562876181	chr16:46948048-46948049	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs182248523	chr16:46948069-46948070	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs145164944	chr16:46948076-46948077	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs560088286	chr16:46948077-46948078	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs138928103	chr16:46948088-46948089	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs62059080	chr16:46948096-46948097	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs570181834	chr16:46948097-46948098	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs187213392	chr16:46948141-46948142	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs549324595	chr16:46948177-46948178	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs368437243	chr16:46948186-46948187	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs188882249	chr16:46948194-46948195	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs536540407	chr16:46948199-46948200	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs555272921	chr16:46948220-46948221	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs75534177	chr16:46948229-46948230	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs181586599	chr16:46948239-46948240	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs115966469	chr16:46948332-46948333	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs373774577	chr16:46948373-46948374	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs559217040	chr16:46948378-46948379	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs577367571	chr16:46948406-46948407	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs544730569	chr16:46948498-46948499	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs145677911	chr16:46948512-46948513	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs67369452	chr16:46948513-46948514	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539570697	chr16:46948523-46948524	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs560359015	chr16:46948524-46948525	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs558050461	chr16:46948533-46948534	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs527610306	chr16:46948569-46948570	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	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
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46919000-46963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:46920800-46949000	Weak transcription	A549	lung
3	chr16:46928400-46966000	Strong transcription	Fetal Brain Female	brain
4	chr16:46929000-46949200	Weak transcription	Fetal Brain Male	brain
5	chr16:46929200-46949200	Weak transcription	K562	blood
6	chr16:46929400-46965200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr16:46930600-46956200	Weak transcription	Fetal Intestine Small	intestine
8	chr16:46930800-46965400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:46930800-46968400	Weak transcription	Right Atrium	heart
10	chr16:46931000-46949000	Weak transcription	Fetal Kidney	kidney
11	chr16:46931000-46951200	Strong transcription	Liver	Liver
12	chr16:46931200-46952400	Weak transcription	Ovary	ovary
13	chr16:46931600-46957800	Strong transcription	Fetal Stomach	stomach
14	chr16:46931600-46965200	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr16:46932200-46956200	Weak transcription	Left Ventricle	heart
16	chr16:46932200-46965200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:46932400-46957600	Weak transcription	Psoas Muscle	Psoas
18	chr16:46933600-46949200	Weak transcription	HSMM	muscle
19	chr16:46933600-46959800	Weak transcription	HUVEC	blood vessel
20	chr16:46933600-46965400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:46933800-46965800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr16:46934000-46963400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:46935400-46958200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr16:46936400-46951800	Weak transcription	Spleen	Spleen
25	chr16:46936600-46956000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:46936600-46956200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr16:46937800-46949000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr16:46938400-46948600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr16:46938600-46952600	Weak transcription	Stomach Mucosa	stomach
30	chr16:46938800-46949000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr16:46939600-46964800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:46939800-46949200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:46940000-46964600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:46941200-46949400	Weak transcription	Fetal Heart	heart
35	chr16:46941200-46955000	Enhancers	Primary B cells from peripheral blood	blood
36	chr16:46942400-46952000	Strong transcription	HMEC	breast
37	chr16:46942600-46950600	Strong transcription	Fetal Muscle Trunk	muscle
38	chr16:46942800-46956200	Weak transcription	Colon Smooth Muscle	Colon
39	chr16:46943000-46952200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr16:46943000-46952400	Strong transcription	Placenta	Placenta
41	chr16:46943000-46952400	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr16:46943200-46965200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:46943200-46965400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr16:46943400-46947400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:46943400-46947400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:46943400-46948000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:46943400-46949000	Strong transcription	Pancreas	Pancrea
48	chr16:46943400-46949200	Strong transcription	Esophagus	oesophagus
49	chr16:46943400-46949400	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr16:46943400-46953400	Strong transcription	HSMMtube	muscle

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