Variant report

Variant	esv3323801
Chromosome Location	chr16:80603726-80605849
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	ATF2	chr16:80603410-80603973	GM12878	blood:	n/a	n/a
2	BATF	chr16:80603502-80603836	GM12878	blood:	n/a	chr16:80603692-80603703 chr16:80603678-80603689
3	BCL3	chr16:80603492-80603890	GM12878	blood:	n/a	chr16:80603692-80603701 chr16:80603691-80603700
4	BCLAF1	chr16:80603423-80604031	GM12878	blood:	n/a	chr16:80603692-80603701 chr16:80603691-80603700
5	EBF1	chr16:80603466-80603896	GM12878	blood:	n/a	n/a
6	EGR1	chr16:80603584-80603827	K562	blood:	n/a	chr16:80603718-80603732 chr16:80603723-80603736
7	EGR1	chr16:80603543-80603829	GM12878	blood:	n/a	chr16:80603718-80603732 chr16:80603723-80603736
8	EGR1	chr16:80603614-80603830	GM12878	blood:	n/a	chr16:80603718-80603732 chr16:80603723-80603736
9	EGR1	chr16:80603529-80603812	K562	blood:	n/a	chr16:80603718-80603732 chr16:80603723-80603736
10	FOS	chr16:80603330-80603881	MCF10A-Er-Src	breast:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
11	FOS	chr16:80603214-80604220	HUVEC	blood vessel:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
12	FOS	chr16:80603279-80603882	MCF10A-Er-Src	breast:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
13	FOS	chr16:80603400-80603847	MCF10A-Er-Src	breast:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
14	FOS	chr16:80603256-80603881	MCF10A-Er-Src	breast:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
15	FOSL1	chr16:80603480-80603817	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
16	FOSL1	chr16:80603526-80603816	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
17	FOSL2	chr16:80603232-80603878	MCF-7	breast:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
18	FOSL2	chr16:80603153-80603855	SK-N-SH	brain:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
19	FOXM1	chr16:80603340-80603978	GM12878	blood:	n/a	n/a
20	FOXM1	chr16:80603417-80604099	GM12878	blood:	n/a	n/a
21	GATA2	chr16:80603312-80603842	HUVEC	blood vessel:	n/a	n/a
22	JUN	chr16:80603297-80603854	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
23	JUN	chr16:80603090-80604311	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
24	JUND	chr16:80603261-80603776	Hela-S3	cervix:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
25	JUND	chr16:80603244-80603852	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
26	KAP1	chr16:80603229-80604333	U2OS	brain:	n/a	n/a
27	KAP1	chr16:80603210-80604283	HEK293	kidney:	n/a	n/a
28	MAFF	chr16:80603969-80604169	HepG2	liver:	n/a	n/a
29	MAFK	chr16:80603956-80604219	HepG2	liver:	n/a	chr16:80604052-80604072
30	MAFK	chr16:80603964-80604198	IMR90	lung:	n/a	chr16:80604052-80604072
31	MAFK	chr16:80603960-80604199	HepG2	liver:	n/a	chr16:80604052-80604072
32	MAZ	chr16:80603811-80603816	GM12878	blood:	n/a	n/a
33	MTA3	chr16:80603281-80604361	GM12878	blood:	n/a	n/a
34	MTA3	chr16:80603440-80604065	GM12878	blood:	n/a	n/a
35	MYC	chr16:80603632-80603827	MCF10A-Er-Src	breast:	n/a	chr16:80603692-80603701
36	MYC	chr16:80603593-80603882	MCF10A-Er-Src	breast:	n/a	chr16:80603692-80603701
37	NFATC1	chr16:80603514-80603932	GM12878	blood:	n/a	n/a
38	NFIC	chr16:80603361-80604227	GM12878	blood:	n/a	n/a
39	NFYB	chr16:80603657-80603829	GM12878	blood:	n/a	n/a
40	PML	chr16:80603333-80604265	GM12878	blood:	n/a	n/a
41	POLR2A	chr16:80603439-80603947	GM12891	blood:	n/a	n/a
42	POLR2A	chr16:80603255-80604047	GM12892	blood:	n/a	n/a
43	POLR2A	chr16:80603191-80604331	GM12892	blood:	n/a	n/a
44	POLR2A	chr16:80603439-80603932	U87	brain:	n/a	n/a
45	POLR2A	chr16:80603370-80603962	GM12891	blood:	n/a	n/a
46	POLR2A	chr16:80603296-80604015	GM12892	blood:	n/a	n/a
47	POLR2A	chr16:80603234-80603932	U87	brain:	n/a	n/a
48	POLR2A	chr16:80603324-80603954	GM12891	blood:	n/a	n/a
49	POU2F2	chr16:80603385-80603871	GM12891	blood:	n/a	n/a
50	POU2F2	chr16:80603434-80603989	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:80598414..80600726-chr16:80604095..80606613,2	MCF-7	breast:
2	chr16:80595839..80600096-chr16:80600224..80603898,5	MCF-7	breast:
3	chr16:80573192..80575392-chr16:80605742..80608359,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDYL2-2	chr16:80604029-80604412	NONHSAT143901

Variant related genes	Relation type
ENSG00000260737	TF binding region
ENSG00000259867	chromatin interactions
ENSG00000168589	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190334649	chr16:80603740-80603741	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs539534177	chr16:80603749-80603750	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77079022	chr16:80603762-80603763	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs377309596	chr16:80603779-80603780	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116003232	chr16:80603780-80603781	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs386792780	chr16:80603782-80603783	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs116308546	chr16:80603783-80603784	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs149415501	chr16:80603804-80603805	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540441259	chr16:80603805-80603806	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs117891842	chr16:80603814-80603815	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs181529570	chr16:80603851-80603852	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs533539122	chr16:80603860-80603861	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs535275849	chr16:80603876-80603877	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553499683	chr16:80603885-80603886	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs111415205	chr16:80603888-80603889	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs116467100	chr16:80603898-80603899	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs527678539	chr16:80603905-80603906	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs563062683	chr16:80603906-80603907	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs564851998	chr16:80603909-80603910	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs185227675	chr16:80603925-80603926	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs568041419	chr16:80603933-80603934	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs549493098	chr16:80603960-80603961	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs535347480	chr16:80604001-80604002	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs550425662	chr16:80604009-80604010	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs78157176	chr16:80604032-80604033	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs539220228	chr16:80604037-80604038	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs557876446	chr16:80604045-80604046	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs148548618	chr16:80604067-80604068	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs533813394	chr16:80604071-80604072	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs555389923	chr16:80604084-80604085	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs573648009	chr16:80604116-80604117	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs375756862	chr16:80604148-80604149	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs562309236	chr16:80604174-80604175	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs188793907	chr16:80604242-80604243	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs545260045	chr16:80604261-80604262	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs573612269	chr16:80604277-80604278	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs75175235	chr16:80604294-80604295	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs544313160	chr16:80604305-80604306	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs181216702	chr16:80604366-80604367	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs185343703	chr16:80604399-80604400	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs12924695	chr16:80604400-80604401	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs370631346	chr16:80604449-80604450	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs13332144	chr16:80604457-80604458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189651156	chr16:80604469-80604470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12925880	chr16:80604490-80604491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13333152	chr16:80604496-80604497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533201680	chr16:80604509-80604510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551265643	chr16:80604513-80604514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13336618	chr16:80604518-80604519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13333186	chr16:80604526-80604527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80599000-80607800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:80602600-80604400	Enhancers	Fetal Intestine Small	intestine
3	chr16:80602800-80604200	Enhancers	HUVEC	blood vessel
4	chr16:80602800-80604400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr16:80602800-80604400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:80602800-80604400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr16:80602800-80604400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:80602800-80604400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr16:80602800-80604400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:80602800-80604400	Enhancers	Fetal Intestine Large	intestine
11	chr16:80602800-80604400	Enhancers	NH-A	brain
12	chr16:80602800-80604400	Enhancers	NHEK	skin
13	chr16:80603000-80603800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:80603000-80604000	Enhancers	HSMM	muscle
15	chr16:80603000-80604200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr16:80603000-80604200	Enhancers	Duodenum Mucosa	Duodenum
17	chr16:80603000-80604400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:80603000-80604400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr16:80603000-80604400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr16:80603000-80604400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr16:80603000-80604400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:80603000-80604400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr16:80603000-80604400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:80603000-80604400	Enhancers	Liver	Liver
25	chr16:80603000-80604400	Enhancers	Small Intestine	intestine
26	chr16:80603000-80604400	Enhancers	NHLF	lung
27	chr16:80603200-80603800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr16:80603200-80603800	Enhancers	Spleen	Spleen
29	chr16:80603200-80604200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:80603200-80604400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr16:80603200-80604400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr16:80603200-80604400	Enhancers	Esophagus	oesophagus
33	chr16:80603200-80604400	Enhancers	Gastric	stomach
34	chr16:80603200-80604400	Enhancers	GM12878-XiMat	blood
35	chr16:80603400-80603800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:80603400-80603800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:80603400-80603800	Flanking Active TSS	Osteobl	bone
38	chr16:80603400-80604000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:80603400-80604000	Enhancers	Hela-S3	cervix
40	chr16:80603400-80604200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:80603400-80604400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr16:80603400-80604400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:80603400-80604400	Enhancers	Lung	lung
44	chr16:80603400-80604400	Enhancers	HSMMtube	muscle
45	chr16:80603600-80603800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:80603600-80604400	Enhancers	Primary T cells fromperipheralblood	blood
47	chr16:80603800-80604400	Enhancers	Osteobl	bone
48	chr16:80603800-80606000	Weak transcription	Spleen	Spleen
49	chr16:80604000-80604400	Enhancers	HepG2	liver
50	chr16:80604200-80604400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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