Variant report

Variant	nsv906749
Chromosome Location	chr16:59786020-59877306
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:610)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:59823468-59823509	HepG2	liver:	n/a	chr16:59823484-59823495
2	CEBPB	chr16:59860677-59860925	HepG2	liver:	n/a	chr16:59860797-59860808 chr16:59860799-59860810
3	CEBPB	chr16:59850016-59850164	H1-hESC	embryonic stem cell:	n/a	chr16:59850074-59850085
4	CEBPB	chr16:59850022-59850206	HepG2	liver:	n/a	chr16:59850074-59850085
5	CEBPB	chr16:59799271-59799430	HepG2	liver:	n/a	chr16:59799291-59799302
6	CEBPB	chr16:59831123-59831300	HepG2	liver:	n/a	n/a
7	CTCF	chr16:59843400-59843550	GM12878	blood:	n/a	n/a
8	CTCF	chr16:59799520-59799670	GM06990	blood:	n/a	n/a
9	CTCF	chr16:59859067-59859097	GM10248	blood:	n/a	n/a
10	CTCF	chr16:59825900-59826050	HepG2	liver:	n/a	n/a
11	CTCF	chr16:59869978-59870025	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr16:59843733-59843771	GM10248	blood:	n/a	n/a
13	CTCF	chr16:59807127-59807236	GM20000	blood:	n/a	n/a
14	CTCF	chr16:59841434-59841487	Fibrobl	skin:	n/a	n/a
15	CTCF	chr16:59869852-59869899	Medullo	brain:	n/a	n/a
16	CTCF	chr16:59797292-59797346	GM20000	blood:	n/a	n/a
17	CUX1	chr16:59817605-59817638	GM12878	blood:	n/a	n/a
18	E2F4	chr16:59799640-59799740	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr16:59818227-59818427	MCF10A-Er-Src	breast:	n/a	n/a
20	E2F4	chr16:59802618-59802855	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr16:59792825-59793037	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr16:59817163-59817418	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr16:59804887-59805201	MCF10A-Er-Src	breast:	n/a	chr16:59805068-59805078 chr16:59805037-59805046
24	FOS	chr16:59804905-59805201	MCF10A-Er-Src	breast:	n/a	chr16:59805068-59805078 chr16:59805037-59805046
25	FOS	chr16:59792817-59793001	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr16:59817140-59817439	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr16:59815534-59815702	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr16:59804907-59805196	MCF10A-Er-Src	breast:	n/a	chr16:59805068-59805078 chr16:59805037-59805046
29	FOS	chr16:59817141-59817388	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr16:59792823-59793006	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr16:59792842-59792987	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr16:59804905-59805218	MCF10A-Er-Src	breast:	n/a	chr16:59805068-59805078 chr16:59805037-59805046
33	FOSL2	chr16:59803083-59803307	HepG2	liver:	n/a	n/a
34	FOXA1	chr16:59843504-59843864	HepG2	liver:	n/a	n/a
35	FOXA2	chr16:59870037-59870397	A549	lung:	n/a	n/a
36	FOXA2	chr16:59843479-59843827	A549	lung:	n/a	n/a
37	FOXA2	chr16:59843414-59843804	A549	lung:	n/a	n/a
38	GATA3	chr16:59828728-59828975	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr16:59863550-59863653	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr16:59853608-59853708	SH-SY5Y	brain:	n/a	n/a
41	JUN	chr16:59824041-59824085	H1-hESC	embryonic stem cell:	n/a	n/a
42	JUN	chr16:59841098-59841121	H1-hESC	embryonic stem cell:	n/a	n/a
43	JUND	chr16:59830804-59831026	HepG2	liver:	n/a	chr16:59830961-59830972
44	MAFF	chr16:59860703-59861017	HepG2	liver:	n/a	n/a
45	MAFK	chr16:59860710-59861047	HepG2	liver:	n/a	n/a
46	MAFK	chr16:59858512-59858712	HepG2	liver:	n/a	chr16:59858618-59858629
47	MAFK	chr16:59860705-59861045	HepG2	liver:	n/a	n/a
48	MAFK	chr16:59860713-59861028	IMR90	lung:	n/a	n/a
49	MYC	chr16:59805727-59805739	H1-hESC	embryonic stem cell:	n/a	n/a
50	MYC	chr16:59835479-59835621	MCF10A-Er-Src	breast:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:59789219-59789269	H1-hESC	embryonic stem cell:	embryo
2	chr16:59788951-59789001	Hela-S3	cervix:	n/a
3	chr16:59790180-59790230	HepG2	liver:	n/a
4	chr16:59790082-59790132	AG04449	skin:	fetal
5	chr16:59789219-59789269	HAEpiC	amniotic membrane:	n/a
6	chr16:59792836-59792886	HCT-116	colon:	n/a
7	chr16:59789071-59789121	MCF-7	breast:	n/a
8	chr16:59789485-59789535	Hela-S3	cervix:	n/a
9	chr16:59789030-59789080	Jurkat	blood:	n/a
10	chr16:59788728-59788778	HMEC	breast:	n/a
11	chr16:59789030-59789080	GM12891	blood:	n/a
12	chr16:59789030-59789080	Hela-S3	cervix:	n/a
13	chr16:59788728-59788778	HRCEpiC	kidney:	n/a
14	chr16:59789219-59789269	HCT-116	colon:	n/a
15	chr16:59790082-59790132	SKMC	muscle:	n/a
16	chr16:59786279-59786329	NT2-D1	testis:	n/a
17	chr16:59789030-59789080	AoSMC	blood vessel:	n/a
18	chr16:59788728-59788778	HIPEpiC	eye:	n/a
19	chr16:59790180-59790230	Hepatocyte	liver:	n/a
20	chr16:59788728-59788778	HRPEpiC	eye:	n/a
21	chr16:59790082-59790132	Hela-S3	cervix:	n/a
22	chr16:59788951-59789001	SK-N-SH	brain:	n/a
23	chr16:59789071-59789121	NB4	blood:	n/a
24	chr16:59789071-59789121	AG04449	skin:	fetal
25	chr16:59789485-59789535	MCF10A-Er-Src	breast:	n/a
26	chr16:59788951-59789001	SKMC	muscle:	n/a
27	chr16:59789030-59789080	AG04450	lung:	fetal
28	chr16:59786279-59786329	U87	brain:	n/a
29	chr16:59790180-59790230	Jurkat	blood:	n/a
30	chr16:59789219-59789269	HCM	heart:	n/a
31	chr16:59789485-59789535	LNCaP	prostate:	n/a
32	chr16:59786279-59786329	SK-N-SH_RA	brain:	n/a
33	chr16:59790082-59790132	MCF-7	breast:	n/a
34	chr16:59790082-59790132	HPAEpiC	pulmonary alveolar:	n/a
35	chr16:59786279-59786329	HCM	heart:	n/a
36	chr16:59790082-59790132	GM12891	blood:	n/a
37	chr16:59789485-59789535	SK-N-MC	brain:	n/a
38	chr16:59788951-59789001	HIPEpiC	eye:	n/a
39	chr16:59789485-59789535	GM06990	blood:	n/a
40	chr16:59792836-59792886	A549	lung:	n/a
41	chr16:59790180-59790230	HAEpiC	amniotic membrane:	n/a
42	chr16:59789485-59789535	T-47D	breast:	n/a
43	chr16:59789485-59789535	RPTEC	kidney:	n/a
44	chr16:59792836-59792886	AG09309	skin:	n/a
45	chr16:59789219-59789269	PFSK-1	brain:	n/a
46	chr16:59789030-59789080	NT2-D1	testis:	n/a
47	chr16:59786279-59786329	HepG2	liver:	n/a
48	chr16:59789030-59789080	SAEC	small airway:	n/a
49	chr16:59790082-59790132	T-47D	breast:	n/a
50	chr16:59786279-59786329	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:59802014..59804199-chr16:59814012..59816551,2	K562	blood:
2	chr16:59802014..59804199-chr16:59814012..59816551,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-105C20.2.1-5	chr16:59788045-59789095	NONHSAT142893
2	lnc-RP11-105C20.2.1-5	chr16:59788689-59788752	NONHSAT142892
3	lnc-RP11-105C20.2.1-5	chr16:59788365-59788930	NONHSAT142894

No data

Variant related genes	Relation type
ENSG00000260240	TF binding region
APOOP5	TF binding region
ENSG00000260240	CpG island
APOOP5	CpG island

Extended variants
information (count: 1065 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1065 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180913876	chr16:59788046-59788047	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs571426015	chr16:59788088-59788089	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs532361039	chr16:59788109-59788110	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs75810291	chr16:59788139-59788140	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs547147452	chr16:59788158-59788159	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs565743724	chr16:59788163-59788164	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs75155204	chr16:59788169-59788170	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs529027136	chr16:59788179-59788180	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs373251967	chr16:59788185-59788186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs554548542	chr16:59788320-59788321	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs570786742	chr16:59788322-59788323	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs538111341	chr16:59788326-59788327	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs2289825	chr16:59788362-59788363	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577788654	chr16:59788416-59788417	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs545177005	chr16:59788426-59788427	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs72785855	chr16:59788442-59788443	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs572493655	chr16:59788482-59788483	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs28485760	chr16:59788519-59788520	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs542800153	chr16:59788598-59788599	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs561288613	chr16:59788607-59788608	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs531745991	chr16:59788620-59788621	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs543705893	chr16:59788637-59788638	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs565197756	chr16:59788640-59788641	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs78826389	chr16:59788649-59788650	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs547552569	chr16:59788658-59788659	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs565775413	chr16:59788659-59788660	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs560620715	chr16:59788692-59788693	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs186200861	chr16:59788717-59788718	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs191005614	chr16:59788718-59788719	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs536672879	chr16:59788742-59788743	Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs558158828	chr16:59788744-59788745	Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs571594763	chr16:59788794-59788795	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs373303879	chr16:59788813-59788814	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs535532811	chr16:59788819-59788820	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs375987165	chr16:59788845-59788846	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs557333482	chr16:59788855-59788856	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs142602688	chr16:59788878-59788879	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs543067244	chr16:59788880-59788881	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs373694525	chr16:59788908-59788909	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs2289826	chr16:59788940-59788941	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375523534	chr16:59788965-59788966	Weak transcription	CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs372678201	chr16:59788966-59788967	Weak transcription	CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs183422211	chr16:59789055-59789056	Weak transcription	CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs74020085	chr16:59789069-59789070	Weak transcription	CpG island lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565312087	chr16:59789071-59789072	Weak transcription	CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs75599398	chr16:59789078-59789079	Weak transcription	CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs187135858	chr16:59789089-59789090	Weak transcription	CpG island lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs559461000	chr16:59789114-59789115	Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
49	rs529866228	chr16:59789137-59789138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558119331	chr16:59789156-59789157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	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
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59788200-59811600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:59807200-59807600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:59807600-59810400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:59811600-59811800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:59811600-59812200	Active TSS	Spleen	Spleen
6	chr16:59816600-59818000	Enhancers	HSMM	muscle
7	chr16:59816800-59817200	Enhancers	HSMMtube	muscle
8	chr16:59826600-59827400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr16:59843200-59843600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr16:59873400-59874600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:59873800-59874600	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links