Variant report

Variant	esv2758659
Chromosome Location	chr16:76261676-76271996
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	CEBPB	chr16:76266739-76266878	K562	blood:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
2	CEBPB	chr16:76266667-76266981	IMR90	lung:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
3	CEBPB	chr16:76266695-76266926	A549	lung:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
4	CEBPB	chr16:76266660-76266961	HepG2	liver:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
5	CEBPB	chr16:76266652-76266909	H1-hESC	embryonic stem cell:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
6	CTCF	chr16:76263161-76263202	Kidney_OC	kidney:	n/a	n/a
7	GATA3	chr16:76262491-76262776	MCF-7	breast:	n/a	n/a
8	GATA3	chr16:76262530-76262772	T-47D	breast:	n/a	n/a
9	MAFF	chr16:76266605-76266963	HepG2	liver:	n/a	chr16:76266780-76266798
10	MAFF	chr16:76266623-76266925	K562	blood:	n/a	chr16:76266780-76266798
11	MAFF	chr16:76268363-76268489	HepG2	liver:	n/a	n/a
12	MAFK	chr16:76266618-76266951	IMR90	lung:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
13	MAFK	chr16:76266604-76266961	HepG2	liver:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
14	MAFK	chr16:76266652-76266915	K562	blood:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
15	MAFK	chr16:76266628-76266947	Hela-S3	cervix:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
16	MAFK	chr16:76268279-76268496	HepG2	liver:	n/a	chr16:76268373-76268387 chr16:76268375-76268386
17	MAFK	chr16:76266608-76266969	HepG2	liver:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
18	MAFK	chr16:76268298-76268433	HepG2	liver:	n/a	chr16:76268373-76268387 chr16:76268375-76268386
19	MYC	chr16:76271594-76271642	MCF-7	breast:	n/a	n/a
20	MYC	chr16:76268999-76269228	MCF-7	breast:	n/a	n/a
21	MYC	chr16:76269096-76269254	MCF-7	breast:	n/a	n/a
22	POLR2A	chr16:76269115-76269188	A549	lung:	n/a	n/a
23	POLR2A	chr16:76269043-76269512	MCF-7	breast:	n/a	n/a
24	POLR2A	chr16:76268527-76268540	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr16:76268978-76269329	MCF-7	breast:	n/a	n/a
26	POLR2A	chr16:76268069-76268245	MCF-7	breast:	n/a	n/a
27	STAT3	chr16:76267441-76267506	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr16:76268864-76268869	MCF10A-Er-Src	breast:	n/a	n/a
29	YY1	chr16:76271429-76271728	H1-hESC	embryonic stem cell:	n/a	chr16:76271564-76271586 chr16:76271574-76271586
30	YY1	chr16:76271462-76271669	GM12878	blood:	n/a	chr16:76271564-76271586 chr16:76271574-76271586
31	ZBTB33	chr16:76269331-76269557	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:76268785-76268835	AG04450	lung:	fetal
2	chr16:76268785-76268835	AG04450	lung:	fetal
3	chr16:76269409-76269459	NHDF-neo	bronchial:	n/a
4	chr16:76269043-76269093	HMEC	breast:	n/a
5	chr16:76269297-76269347	ProgFib	skin:	n/a
6	chr16:76266534-76266584	PANC-1	pancreas:	n/a
7	chr16:76269184-76269234	GM12878	blood:	n/a
8	chr16:76269043-76269093	ProgFib	skin:	n/a
9	chr16:76269409-76269459	PrEC	prostate:	n/a
10	chr16:76269297-76269347	HMEC	breast:	n/a
11	chr16:76266534-76266584	SKMC	muscle:	n/a
12	chr16:76268785-76268835	RPTEC	kidney:	n/a
13	chr16:76269184-76269234	H1-hESC	embryonic stem cell:	embryo
14	chr16:76269184-76269234	Jurkat	blood:	n/a
15	chr16:76269184-76269234	IMR90	lung:	fetal
16	chr16:76269409-76269459	GM06990	blood:	n/a
17	chr16:76269043-76269093	GM19239	blood:	n/a
18	chr16:76269409-76269459	AG09319	gingival:	n/a
19	chr16:76269184-76269234	AG04449	skin:	fetal
20	chr16:76269297-76269347	LNCaP	prostate:	n/a
21	chr16:76269184-76269234	HepG2	liver:	n/a
22	chr16:76269409-76269459	ovcar-3	ovarian:	n/a
23	chr16:76269409-76269459	AG09309	skin:	n/a
24	chr16:76269043-76269093	Caco-2	colon:	n/a
25	chr16:76269297-76269347	NT2-D1	testis:	n/a
26	chr16:76269297-76269347	BE2_C	brain:	n/a
27	chr16:76269409-76269459	HL-60	blood:	n/a
28	chr16:76266534-76266584	SK-N-SH	brain:	n/a
29	chr16:76269192-76269242	PrEC	prostate:	n/a
30	chr16:76269192-76269242	Caco-2	colon:	n/a
31	chr16:76269192-76269242	ECC-1	luminal epithelium:	n/a
32	chr16:76269192-76269242	BJ	skin:	n/a
33	chr16:76269043-76269093	LNCaP	prostate:	n/a
34	chr16:76266534-76266584	HRPEpiC	eye:	n/a
35	chr16:76269297-76269347	AG04449	skin:	fetal
36	chr16:76268785-76268835	AG04449	skin:	fetal
37	chr16:76269409-76269459	T-47D	breast:	n/a
38	chr16:76269184-76269234	LNCaP	prostate:	n/a
39	chr16:76269297-76269347	Hepatocyte	liver:	n/a
40	chr16:76268785-76268835	HUVEC	blood vessel:	n/a
41	chr16:76268785-76268835	HCM	heart:	n/a
42	chr16:76269409-76269459	HCM	heart:	n/a
43	chr16:76269297-76269347	GM12891	blood:	n/a
44	chr16:76268785-76268835	SK-N-SH_RA	brain:	n/a
45	chr16:76268785-76268835	NHDF-neo	bronchial:	n/a
46	chr16:76269184-76269234	NT2-D1	testis:	n/a
47	chr16:76269043-76269093	HIPEpiC	eye:	n/a
48	chr16:76266534-76266584	HMEC	breast:	n/a
49	chr16:76269297-76269347	AG10803	skin:	n/a
50	chr16:76269192-76269242	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:76267035..76268706-chr16:76269783..76271539,2	K562	blood:
2	chr16:76264260..76266317-chr16:76268267..76270250,2	MCF-7	breast:
3	chr16:76267035..76268706-chr16:76269783..76271539,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC025287.1-3	chr16:76265215-76265343	ENSG00000260983.1
2	lnc-AC025287.1-3	chr16:76262283-76262757	ENSG00000260983.1
3	lnc-AC025287.1-3	chr16:76268585-76269326	NONHSAT143776
4	lnc-AC025287.1-3	chr16:76268953-76269521	NONHSAT143777

Variant related genes	Relation type
RPL18P13	TF binding region
RPL18P13	CpG island
ENSG00000244485	chromatin interactions

Extended variants
information (count: 465 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16943988	chr16:76261676-76261677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551324577	chr16:76261732-76261733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558866097	chr16:76261791-76261792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115111587	chr16:76261801-76261802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs8059198	chr16:76261808-76261809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs188782872	chr16:76261832-76261833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557205560	chr16:76261868-76261869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191166656	chr16:76261879-76261880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139819992	chr16:76261892-76261893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201730133	chr16:76261893-76261894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183668032	chr16:76261912-76261913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532596806	chr16:76261913-76261914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551691450	chr16:76261925-76261926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188460639	chr16:76261931-76261932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552932517	chr16:76261937-76261938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139528233	chr16:76261939-76261940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550471744	chr16:76261945-76261946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8060784	chr16:76261952-76261953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs74671606	chr16:76262022-76262023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553081657	chr16:76262042-76262043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566124473	chr16:76262047-76262048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538283908	chr16:76262049-76262050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555071408	chr16:76262050-76262051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs8060964	chr16:76262056-76262057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs34754027	chr16:76262093-76262094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544905851	chr16:76262125-76262126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554825001	chr16:76262145-76262146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575120897	chr16:76262156-76262157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185128152	chr16:76262173-76262174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544189126	chr16:76262179-76262180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540366587	chr16:76262189-76262190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560608687	chr16:76262225-76262226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532534802	chr16:76262254-76262255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546247659	chr16:76262282-76262283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562889710	chr16:76262312-76262313	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs530788082	chr16:76262319-76262320	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs74024941	chr16:76262320-76262321	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs567301171	chr16:76262328-76262329	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs557669376	chr16:76262364-76262365	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs529942579	chr16:76262429-76262430	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs546364751	chr16:76262430-76262431	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs190075591	chr16:76262441-76262442	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs538371611	chr16:76262450-76262451	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs551721176	chr16:76262465-76262466	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs568522717	chr16:76262492-76262493	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs373038293	chr16:76262500-76262501	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs538110836	chr16:76262524-76262525	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs555291521	chr16:76262567-76262568	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs67024311	chr16:76262572-76262573	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs536716939	chr16:76262594-76262595	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76258200-76262000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:76262000-76262800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:76262800-76269000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:76263800-76265000	Enhancers	Fetal Lung	lung
5	chr16:76266400-76266800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:76266400-76267200	Enhancers	Adipose Nuclei	Adipose
7	chr16:76266600-76267200	Enhancers	Liver	Liver
8	chr16:76269000-76269400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:76269400-76272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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