Variant report

Variant	esv3327294
Chromosome Location	chr16:80603476-80606024
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	CTCF	chr16:80603360-80603510	HBMEC	blood vessel:	n/a	n/a
6	EBF1	chr16:80603466-80603896	GM12878	blood:	n/a	n/a
7	EGR1	chr16:80603584-80603827	K562	blood:	n/a	chr16:80603718-80603732 chr16:80603723-80603736
8	EGR1	chr16:80603529-80603812	K562	blood:	n/a	chr16:80603718-80603732 chr16:80603723-80603736
9	EGR1	chr16:80603614-80603830	GM12878	blood:	n/a	chr16:80603718-80603732 chr16:80603723-80603736
10	EGR1	chr16:80603543-80603829	GM12878	blood:	n/a	chr16:80603718-80603732 chr16:80603723-80603736
11	ELF1	chr16:80603285-80603584	GM12878	blood:	n/a	n/a
12	FOS	chr16:80603400-80603847	MCF10A-Er-Src	breast:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
13	FOS	chr16:80603214-80604220	HUVEC	blood vessel:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
14	FOS	chr16:80603279-80603882	MCF10A-Er-Src	breast:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
15	FOS	chr16:80603256-80603881	MCF10A-Er-Src	breast:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
16	FOS	chr16:80603330-80603881	MCF10A-Er-Src	breast:	n/a	chr16:80603690-80603701 chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
17	FOSL1	chr16:80603480-80603817	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
18	FOSL1	chr16:80603526-80603816	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
19	FOSL1	chr16:80603261-80603476	K562	blood:	n/a	n/a
20	FOSL2	chr16:80603153-80603855	SK-N-SH	brain:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
21	FOSL2	chr16:80603232-80603878	MCF-7	breast:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
22	FOSL2	chr16:80603269-80603559	HepG2	liver:	n/a	n/a
23	FOXM1	chr16:80603340-80603978	GM12878	blood:	n/a	n/a
24	FOXM1	chr16:80603417-80604099	GM12878	blood:	n/a	n/a
25	GATA2	chr16:80603312-80603842	HUVEC	blood vessel:	n/a	n/a
26	JUN	chr16:80603090-80604311	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
27	JUN	chr16:80603297-80603854	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
28	JUND	chr16:80603244-80603852	K562	blood:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
29	JUND	chr16:80603261-80603776	Hela-S3	cervix:	n/a	chr16:80603692-80603700 chr16:80603692-80603699 chr16:80603691-80603700
30	KAP1	chr16:80603229-80604333	U2OS	brain:	n/a	n/a
31	KAP1	chr16:80603210-80604283	HEK293	kidney:	n/a	n/a
32	MAFF	chr16:80603969-80604169	HepG2	liver:	n/a	n/a
33	MAFK	chr16:80603956-80604219	HepG2	liver:	n/a	chr16:80604052-80604072
34	MAFK	chr16:80603960-80604199	HepG2	liver:	n/a	chr16:80604052-80604072
35	MAFK	chr16:80603964-80604198	IMR90	lung:	n/a	chr16:80604052-80604072
36	MAZ	chr16:80603811-80603816	GM12878	blood:	n/a	n/a
37	MTA3	chr16:80603281-80604361	GM12878	blood:	n/a	n/a
38	MTA3	chr16:80603440-80604065	GM12878	blood:	n/a	n/a
39	MYC	chr16:80603593-80603882	MCF10A-Er-Src	breast:	n/a	chr16:80603692-80603701
40	MYC	chr16:80603632-80603827	MCF10A-Er-Src	breast:	n/a	chr16:80603692-80603701
41	NFATC1	chr16:80603514-80603932	GM12878	blood:	n/a	n/a
42	NFIC	chr16:80603361-80604227	GM12878	blood:	n/a	n/a
43	NFYB	chr16:80603657-80603829	GM12878	blood:	n/a	n/a
44	PML	chr16:80603333-80604265	GM12878	blood:	n/a	n/a
45	POLR2A	chr16:80603439-80603932	U87	brain:	n/a	n/a
46	POLR2A	chr16:80603296-80604015	GM12892	blood:	n/a	n/a
47	POLR2A	chr16:80603370-80603962	GM12891	blood:	n/a	n/a
48	POLR2A	chr16:80603234-80603932	U87	brain:	n/a	n/a
49	POLR2A	chr16:80603439-80603947	GM12891	blood:	n/a	n/a
50	POLR2A	chr16:80603255-80604047	GM12892	blood:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDYL2-2	chr16:80602713-80603584	ENSG00000250904
2	lnc-CDYL2-2	chr16:80603122-80603566	NONHSAT143899
3	lnc-CDYL2-2	chr16:80604029-80604412	NONHSAT143901
4	lnc-CDYL2-2	chr16:80603122-80603507	NR_104665
5	lnc-CDYL2-2	chr16:80603122-80603566	NONHSAT143893
6	lnc-CDYL2-2	chr16:80603122-80603581	XLOC_012020
7	lnc-CDYL2-2	chr16:80603088-80603495	NONHSAT143901

Variant related genes	Relation type
ENSG00000260737	TF binding region
ENSG00000259867	chromatin interactions
ENSG00000168589	chromatin interactions
RBM10	miRNA target sites

Extended variants
information (count: 148 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546272112	chr16:80603482-80603483	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs576330486	chr16:80603528-80603529	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs533892340	chr16:80603621-80603622	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs377341403	chr16:80603669-80603670	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546879527	chr16:80603682-80603683	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568002892	chr16:80603710-80603711	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs535310028	chr16:80603714-80603715	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556715261	chr16:80603718-80603719	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs190334649	chr16:80603740-80603741	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539534177	chr16:80603749-80603750	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs77079022	chr16:80603762-80603763	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs377309596	chr16:80603779-80603780	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs116003232	chr16:80603780-80603781	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs386792780	chr16:80603782-80603783	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs116308546	chr16:80603783-80603784	Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs149415501	chr16:80603804-80603805	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs540441259	chr16:80603805-80603806	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs117891842	chr16:80603814-80603815	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs181529570	chr16:80603851-80603852	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533539122	chr16:80603860-80603861	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535275849	chr16:80603876-80603877	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553499683	chr16:80603885-80603886	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs111415205	chr16:80603888-80603889	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs116467100	chr16:80603898-80603899	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs527678539	chr16:80603905-80603906	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs563062683	chr16:80603906-80603907	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs564851998	chr16:80603909-80603910	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs185227675	chr16:80603925-80603926	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs568041419	chr16:80603933-80603934	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs549493098	chr16:80603960-80603961	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs535347480	chr16:80604001-80604002	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs550425662	chr16:80604009-80604010	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs78157176	chr16:80604032-80604033	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs539220228	chr16:80604037-80604038	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs557876446	chr16:80604045-80604046	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs148548618	chr16:80604067-80604068	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs533813394	chr16:80604071-80604072	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs555389923	chr16:80604084-80604085	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs573648009	chr16:80604116-80604117	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs375756862	chr16:80604148-80604149	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs562309236	chr16:80604174-80604175	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs188793907	chr16:80604242-80604243	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs545260045	chr16:80604261-80604262	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs573612269	chr16:80604277-80604278	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs75175235	chr16:80604294-80604295	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs544313160	chr16:80604305-80604306	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs181216702	chr16:80604366-80604367	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs185343703	chr16:80604399-80604400	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs12924695	chr16:80604400-80604401	Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs370631346	chr16:80604449-80604450	Weak 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
early-passage human iPS cells	21368824	CNVD
Neuroblastoma	18923524	CNVD

Chromatin state (count:56 , 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	chr16:80603000-80603600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr16:80603000-80603800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:80603000-80604000	Enhancers	HSMM	muscle
16	chr16:80603000-80604200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr16:80603000-80604200	Enhancers	Duodenum Mucosa	Duodenum
18	chr16:80603000-80604400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:80603000-80604400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr16:80603000-80604400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr16:80603000-80604400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr16:80603000-80604400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:80603000-80604400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr16:80603000-80604400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:80603000-80604400	Enhancers	Liver	Liver
26	chr16:80603000-80604400	Enhancers	Small Intestine	intestine
27	chr16:80603000-80604400	Enhancers	NHLF	lung
28	chr16:80603200-80603800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr16:80603200-80603800	Enhancers	Spleen	Spleen
30	chr16:80603200-80604200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:80603200-80604400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr16:80603200-80604400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:80603200-80604400	Enhancers	Esophagus	oesophagus
34	chr16:80603200-80604400	Enhancers	Gastric	stomach
35	chr16:80603200-80604400	Enhancers	GM12878-XiMat	blood
36	chr16:80603400-80603600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:80603400-80603800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:80603400-80603800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:80603400-80603800	Flanking Active TSS	Osteobl	bone
40	chr16:80603400-80604000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:80603400-80604000	Enhancers	Hela-S3	cervix
42	chr16:80603400-80604200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:80603400-80604400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:80603400-80604400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:80603400-80604400	Enhancers	Lung	lung
46	chr16:80603400-80604400	Enhancers	HSMMtube	muscle
47	chr16:80603600-80603800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr16:80603600-80604400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr16:80603800-80604400	Enhancers	Osteobl	bone
50	chr16:80603800-80606000	Weak transcription	Spleen	Spleen

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