Variant report

Variant	esv3385210
Chromosome Location	chr16:48664601-48666699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:48664357-48664673	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:48664341-48664623	K562	blood:	n/a	n/a
3	BHLHE40	chr16:48664125-48664652	GM12878	blood:	n/a	n/a
4	BHLHE40	chr16:48664087-48664605	K562	blood:	n/a	n/a
5	BHLHE40	chr16:48664190-48664651	HepG2	liver:	n/a	n/a
6	BHLHE40	chr16:48666299-48666661	HepG2	liver:	n/a	n/a
7	CEBPB	chr16:48664280-48664622	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr16:48664278-48664615	IMR90	lung:	n/a	n/a
9	CHD1	chr16:48663969-48664780	IMR90	lung:	n/a	n/a
10	CHD2	chr16:48664088-48664610	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr16:48664280-48664603	GM12878	blood:	n/a	n/a
12	CTCF	chr16:48664221-48664674	HepG2	liver:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
13	CTCF	chr16:48666533-48666687	GM19239	blood:	n/a	n/a
14	CTCF	chr16:48664460-48664610	HRE	kidney:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
15	CTCF	chr16:48664157-48664742	K562	blood:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
16	CTCF	chr16:48664376-48664641	GM12891	blood:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
17	CTCF	chr16:48664460-48664610	HVMF	connective:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
18	CTCF	chr16:48664500-48664650	A549	lung:	n/a	chr16:48664501-48664514 chr16:48664500-48664516
19	CTCF	chr16:48664348-48664698	Medullo	brain:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
20	CTCF	chr16:48664700-48664850	GM12869	blood:	n/a	n/a
21	CTCF	chr16:48666500-48666650	Caco-2	colon:	n/a	n/a
22	CTCF	chr16:48664339-48664685	Spleen_OC	spleen:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
23	CTCF	chr16:48666420-48666570	GM12869	blood:	n/a	n/a
24	CTCF	chr16:48664384-48664646	GM13977	blood:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
25	CTCF	chr16:48666560-48666710	GM12872	blood:	n/a	n/a
26	CTCF	chr16:48666400-48666550	HepG2	liver:	n/a	n/a
27	CTCF	chr16:48664367-48664664	Kidney_OC	kidney:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
28	CTCF	chr16:48666400-48666550	GM12872	blood:	n/a	n/a
29	CTCF	chr16:48664376-48664658	LNCaP	prostate:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
30	CTCF	chr16:48664460-48664610	HCM	heart:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
31	CTCF	chr16:48664460-48664610	RPTEC	kidney:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
32	CTCF	chr16:48664480-48664630	HCM	heart:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
33	CTCF	chr16:48664395-48664625	H1-hESC	embryonic stem cell:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
34	CTCF	chr16:48664460-48664610	HMEC	breast:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
35	CTCF	chr16:48666406-48666481	HepG2	liver:	n/a	n/a
36	CTCF	chr16:48664292-48664682	K562	blood:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
37	CTCF	chr16:48664373-48664637	ProgFib	skin:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
38	CTCF	chr16:48664360-48664657	GM10266	blood:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
39	CTCF	chr16:48664460-48664610	GM12870	blood:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
40	CTCF	chr16:48664131-48664679	HCT-116	colon:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
41	CTCF	chr16:48664308-48664679	T-47D	breast:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
42	CTCF	chr16:48664366-48664650	GM12892	blood:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
43	CTCF	chr16:48666477-48666499	GM19239	blood:	n/a	n/a
44	CTCF	chr16:48664674-48664681	GM10248	blood:	n/a	n/a
45	CTCF	chr16:48664460-48664610	HL-60	blood:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
46	CTCF	chr16:48664480-48664630	GM12878	blood:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
47	CTCF	chr16:48666320-48666470	HepG2	liver:	n/a	n/a
48	CTCF	chr16:48664460-48664610	GM12868	blood:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
49	CTCF	chr16:48664142-48664752	K562	blood:	n/a	chr16:48664501-48664514 chr16:48664500-48664516 chr16:48664494-48664515 chr16:48664499-48664517
50	CTCF	chr16:48666320-48666470	AG04449	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48387653..48388232-chr16:48664055..48664936,2	K562	blood:

Variant related genes	Relation type
ENSG00000260052	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74755963	chr16:48664623-48664624	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs553183297	chr16:48664635-48664636	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs7185541	chr16:48664681-48664682	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs188510978	chr16:48664748-48664749	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs181280567	chr16:48664755-48664756	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs12446644	chr16:48664818-48664819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575504629	chr16:48664827-48664828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553644763	chr16:48664949-48664950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544617691	chr16:48665067-48665068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565072068	chr16:48665198-48665199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577063749	chr16:48665270-48665271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540921425	chr16:48665304-48665305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367742281	chr16:48665310-48665311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62060277	chr16:48665324-48665325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530396312	chr16:48665362-48665363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61098261	chr16:48665448-48665449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143732138	chr16:48665453-48665454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57903644	chr16:48665468-48665469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551014770	chr16:48665608-48665609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548325794	chr16:48665624-48665625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571340766	chr16:48665639-48665640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10543995	chr16:48665663-48665664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537058790	chr16:48665667-48665668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371649631	chr16:48665668-48665669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369210013	chr16:48665671-48665672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377054276	chr16:48665672-48665673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562857438	chr16:48665674-48665675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372944658	chr16:48665675-48665676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200188924	chr16:48665676-48665677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372585257	chr16:48665695-48665696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8050844	chr16:48665696-48665697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs117365398	chr16:48665743-48665744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34712663	chr16:48665773-48665774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62060278	chr16:48665878-48665879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4471681	chr16:48665946-48665947	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs4315324	chr16:48665975-48665976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs535337598	chr16:48666030-48666031	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs577216901	chr16:48666032-48666033	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs538841950	chr16:48666054-48666055	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs559067413	chr16:48666145-48666146	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs201168305	chr16:48666162-48666163	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs575711297	chr16:48666228-48666229	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs539018621	chr16:48666229-48666230	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs150621478	chr16:48666251-48666252	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs554943854	chr16:48666270-48666271	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs182323236	chr16:48666284-48666285	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs34157671	chr16:48666285-48666286	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs28432694	chr16:48666310-48666311	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs535408158	chr16:48666314-48666315	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs374822411	chr16:48666315-48666316	Weak transcription Enhancers	TF binding region	1 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
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
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
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
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48658000-48667200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:48658000-48670400	Weak transcription	Pancreas	Pancrea
3	chr16:48662400-48664800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr16:48662800-48667400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:48663000-48666400	Weak transcription	Fetal Intestine Small	intestine
6	chr16:48663600-48664800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr16:48664000-48664800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:48664000-48664800	Enhancers	Primary B cells from peripheral blood	blood
9	chr16:48664000-48664800	Enhancers	Liver	Liver
10	chr16:48664000-48664800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr16:48664000-48664800	Enhancers	Dnd41	blood
12	chr16:48664000-48664800	Flanking Active TSS	HepG2	liver
13	chr16:48664000-48674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr16:48664200-48664800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr16:48664200-48664800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr16:48664200-48664800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr16:48664200-48664800	Enhancers	Brain Angular Gyrus	brain
18	chr16:48664200-48664800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr16:48664200-48664800	Enhancers	Stomach Mucosa	stomach
20	chr16:48664200-48665000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr16:48664200-48665000	Enhancers	Fetal Heart	heart
22	chr16:48664400-48664800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr16:48664400-48664800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr16:48664400-48664800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr16:48664400-48664800	Enhancers	Brain Substantia Nigra	brain
26	chr16:48664400-48664800	Enhancers	Duodenum Mucosa	Duodenum
27	chr16:48664400-48664800	Enhancers	Fetal Muscle Leg	muscle
28	chr16:48664400-48664800	Enhancers	NH-A	brain
29	chr16:48664400-48665800	Weak transcription	Fetal Intestine Large	intestine
30	chr16:48664400-48666400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:48664600-48664800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:48664600-48664800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:48664600-48664800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:48664600-48664800	Enhancers	Brain Hippocampus Middle	brain
35	chr16:48664600-48664800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr16:48664600-48664800	Enhancers	Right Atrium	heart
37	chr16:48664600-48664800	Flanking Active TSS	Osteobl	bone
38	chr16:48664600-48665000	Enhancers	Stomach Smooth Muscle	stomach
39	chr16:48664600-48665400	Enhancers	Colon Smooth Muscle	Colon
40	chr16:48664600-48666200	Weak transcription	A549	lung
41	chr16:48664800-48665800	Weak transcription	Liver	Liver
42	chr16:48664800-48665800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr16:48664800-48665800	Weak transcription	HepG2	liver
44	chr16:48664800-48666200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr16:48665800-48666000	Enhancers	HepG2	liver
46	chr16:48665800-48666600	Enhancers	Duodenum Mucosa	Duodenum
47	chr16:48665800-48666600	Enhancers	Fetal Intestine Large	intestine
48	chr16:48665800-48666800	Enhancers	Liver	Liver
49	chr16:48666000-48666200	Flanking Active TSS	HepG2	liver
50	chr16:48666200-48666400	Enhancers	HepG2	liver

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