Variant report

Variant	esv2830265
Chromosome Location	chr16:76722500-76844155
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	ATF1	chr16:76789952-76789998	K562	blood:	n/a	n/a
2	ATF2	chr16:76839037-76839302	GM12878	blood:	n/a	n/a
3	BATF	chr16:76838975-76839411	GM12878	blood:	n/a	n/a
4	BATF	chr16:76838952-76839361	GM12878	blood:	n/a	n/a
5	BCL11A	chr16:76839121-76839299	GM12878	blood:	n/a	chr16:76839215-76839224 chr16:76839226-76839235
6	BCL11A	chr16:76839015-76839347	GM12878	blood:	n/a	chr16:76839215-76839224 chr16:76839226-76839235
7	CEBPB	chr16:76814500-76814768	MCF-7	breast:	n/a	n/a
8	CEBPB	chr16:76821360-76821589	A549	lung:	n/a	chr16:76821486-76821497
9	CEBPB	chr16:76794239-76794437	A549	lung:	n/a	n/a
10	CEBPB	chr16:76734178-76734430	IMR90	lung:	n/a	n/a
11	CEBPB	chr16:76804175-76804292	HepG2	liver:	n/a	chr16:76804250-76804261
12	CEBPB	chr16:76777703-76778010	IMR90	lung:	n/a	chr16:76777865-76777876
13	CEBPB	chr16:76777705-76778043	HepG2	liver:	n/a	chr16:76777865-76777876
14	CEBPB	chr16:76737550-76737552	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr16:76756359-76756661	HepG2	liver:	n/a	chr16:76756489-76756502 chr16:76756490-76756501 chr16:76756620-76756631
16	CEBPB	chr16:76756458-76756533	K562	blood:	n/a	chr16:76756489-76756502 chr16:76756490-76756501
17	CEBPB	chr16:76734183-76734406	K562	blood:	n/a	n/a
18	CEBPB	chr16:76825079-76825413	HepG2	liver:	n/a	chr16:76825240-76825251
19	CEBPB	chr16:76782202-76782512	HepG2	liver:	n/a	chr16:76782369-76782380
20	CEBPB	chr16:76734138-76734455	HepG2	liver:	n/a	n/a
21	CEBPB	chr16:76825133-76825288	H1-hESC	embryonic stem cell:	n/a	chr16:76825240-76825251
22	CEBPB	chr16:76811841-76811942	HepG2	liver:	n/a	n/a
23	CEBPB	chr16:76821421-76821621	Hela-S3	cervix:	n/a	chr16:76821486-76821497
24	CEBPB	chr16:76756351-76756650	IMR90	lung:	n/a	chr16:76756489-76756502 chr16:76756490-76756501 chr16:76756620-76756631
25	CEBPB	chr16:76794135-76794428	HepG2	liver:	n/a	n/a
26	CEBPB	chr16:76821329-76821602	HepG2	liver:	n/a	chr16:76821486-76821497
27	CEBPB	chr16:76821337-76821633	H1-hESC	embryonic stem cell:	n/a	chr16:76821486-76821497
28	CEBPB	chr16:76777685-76778008	A549	lung:	n/a	chr16:76777865-76777876
29	CEBPB	chr16:76782214-76782511	A549	lung:	n/a	chr16:76782369-76782380
30	CEBPB	chr16:76782215-76782526	IMR90	lung:	n/a	chr16:76782369-76782380
31	CEBPB	chr16:76814582-76814755	HepG2	liver:	n/a	n/a
32	CTCF	chr16:76783086-76783276	GM12878	blood:	n/a	n/a
33	CTCF	chr16:76804420-76804570	Caco-2	colon:	n/a	n/a
34	CTCF	chr16:76763480-76763630	RPTEC	kidney:	n/a	n/a
35	CTCF	chr16:76790920-76791070	HMF	breast:	n/a	n/a
36	CTCF	chr16:76763500-76763650	Caco-2	colon:	n/a	n/a
37	CTCF	chr16:76763520-76763670	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr16:76770800-76770950	GM12864	blood:	n/a	n/a
39	CTCF	chr16:76784900-76785050	HMEC	breast:	n/a	n/a
40	CTCF	chr16:76750953-76751093	GM20000	blood:	n/a	n/a
41	CTCF	chr16:76763500-76763650	HMF	breast:	n/a	n/a
42	CTCF	chr16:76843182-76843272	GM20000	blood:	n/a	n/a
43	CTCF	chr16:76763520-76763670	HMEC	breast:	n/a	n/a
44	CTCF	chr16:76763540-76763690	MCF-7	breast:	n/a	n/a
45	CTCF	chr16:76763580-76763730	RPTEC	kidney:	n/a	n/a
46	CTCF	chr16:76770720-76770870	MCF-7	breast:	n/a	n/a
47	CTCF	chr16:76745901-76745971	LNCaP	prostate:	n/a	n/a
48	CTCF	chr16:76770260-76770410	Caco-2	colon:	n/a	n/a
49	CTCF	chr16:76763440-76763590	A549	lung:	n/a	n/a
50	CTCF	chr16:76770640-76770790	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:76784883..76787638-chr16:76787899..76789936,2	MCF-7	breast:
2	chr16:76741499..76743675-chr16:76746368..76748815,2	K562	blood:
3	chr16:76741969..76744727-chr16:76747101..76748627,2	K562	blood:
4	chr16:76756661..76759781-chr16:76761311..76764642,3	K562	blood:
5	chr16:76741499..76743675-chr16:76746368..76748815,2	K562	blood:
6	chr16:76747877..76750802-chr16:76754682..76756382,2	K562	blood:
7	chr16:76784883..76787638-chr16:76787899..76789936,2	MCF-7	breast:
8	chr16:76756661..76759781-chr16:76761311..76764642,3	K562	blood:
9	chr16:76741969..76744727-chr16:76747101..76748627,2	K562	blood:
10	chr16:76817240..76820216-chr16:76820936..76823507,2	K562	blood:
11	chr16:76773881..76775450-chr16:76881262..76882791,2	MCF-7	breast:
12	chr16:76817240..76820216-chr16:76820936..76823507,2	K562	blood:
13	chr16:76747877..76750802-chr16:76754682..76756382,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-58C22.1.1-3	chr16:76806570-76806959	XLOC_011793
2	lnc-RP11-58C22.1.1-2	chr16:76733678-76734033	XLOC_011792
3	lnc-RP11-58C22.1.1-3	chr16:76803213-76803278	XLOC_011793
4	lnc-RP11-58C22.1.1-4	chr16:76770239-76770376	ENSG00000259995.1
5	lnc-RP11-58C22.1.1-2	chr16:76737141-76737172	XLOC_011792

Variant related genes	Relation type
ENSG00000259995	TF binding region
CDKN1A	miRNA target sites

Extended variants
information (count: 2930 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2930 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540027507	chr16:76733690-76733691	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs545023563	chr16:76733765-76733766	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs532249621	chr16:76733767-76733768	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs183573811	chr16:76733796-76733797	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs565246573	chr16:76733816-76733817	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs139132443	chr16:76733841-76733842	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs35236606	chr16:76733857-76733858	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs551003372	chr16:76733858-76733859	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs556592567	chr16:76733872-76733873	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs117530198	chr16:76733915-76733916	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs536779046	chr16:76733956-76733957	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs547195829	chr16:76734023-76734024	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs115118282	chr16:76734025-76734026	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs549858730	chr16:76735827-76735828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114354661	chr16:76735906-76735907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535637242	chr16:76735937-76735938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560429611	chr16:76735975-76735976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115256497	chr16:76735976-76735977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534944142	chr16:76735988-76735989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190416311	chr16:76736012-76736013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577180815	chr16:76736024-76736025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545933527	chr16:76736074-76736075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563001285	chr16:76736083-76736084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576505056	chr16:76736140-76736141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542396182	chr16:76736149-76736150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561975528	chr16:76736202-76736203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192348015	chr16:76736220-76736221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370935631	chr16:76736286-76736287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35420722	chr16:76736292-76736293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576453505	chr16:76736309-76736310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143812426	chr16:76736325-76736326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532944524	chr16:76736374-76736375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138448657	chr16:76736383-76736384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569724539	chr16:76736385-76736386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529013041	chr16:76736388-76736389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529111120	chr16:76736390-76736391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549176554	chr16:76736426-76736427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549154192	chr16:76736437-76736438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142942722	chr16:76736449-76736450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534881323	chr16:76736491-76736492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558090722	chr16:76736498-76736499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58184388	chr16:76736526-76736527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs539815453	chr16:76736530-76736531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556321561	chr16:76736548-76736549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576462532	chr16:76736566-76736567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80244594	chr16:76736568-76736569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146218666	chr16:76736590-76736591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572317483	chr16:76736688-76736689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541281638	chr16:76736743-76736744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564798209	chr16:76736761-76736762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Lung cancer	24585490	CNVD
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76735800-76738000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:76739200-76740400	Enhancers	Fetal Intestine Small	intestine
3	chr16:76739800-76740400	Enhancers	Fetal Intestine Large	intestine
4	chr16:76755800-76756400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr16:76757800-76759000	Enhancers	Fetal Brain Male	brain
6	chr16:76759600-76759800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:76759800-76760000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:76763000-76764000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr16:76763200-76763600	Enhancers	Fetal Intestine Small	intestine
10	chr16:76763200-76764000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:76774400-76774800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:76781200-76781600	Enhancers	Brain Germinal Matrix	brain
13	chr16:76781200-76784800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr16:76781600-76782800	Weak transcription	Brain Germinal Matrix	brain
15	chr16:76782200-76785400	Enhancers	Fetal Lung	lung
16	chr16:76782600-76783800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:76782800-76784000	Enhancers	Brain Germinal Matrix	brain
18	chr16:76783000-76783200	Enhancers	Gastric	stomach
19	chr16:76783800-76784200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:76784000-76786400	Weak transcription	Brain Germinal Matrix	brain
21	chr16:76784200-76784600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:76784400-76784600	Enhancers	Fetal Brain Male	brain
23	chr16:76784600-76785600	Weak transcription	Fetal Brain Male	brain
24	chr16:76784800-76785200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr16:76785200-76785800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr16:76785600-76787400	Enhancers	Fetal Brain Male	brain
27	chr16:76786400-76787000	Enhancers	Brain Germinal Matrix	brain
28	chr16:76788200-76789000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:76797200-76797600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:76802400-76802800	Enhancers	Colon Smooth Muscle	Colon
31	chr16:76802800-76803200	Enhancers	Stomach Smooth Muscle	stomach
32	chr16:76803600-76803800	Enhancers	Fetal Brain Male	brain
33	chr16:76803800-76804400	Weak transcription	Fetal Brain Male	brain
34	chr16:76804400-76807000	Enhancers	Fetal Brain Male	brain
35	chr16:76805000-76805600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr16:76805000-76806000	Enhancers	Fetal Brain Female	brain
37	chr16:76805200-76805600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr16:76808800-76812200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr16:76811600-76812000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:76811600-76812400	Enhancers	Brain Germinal Matrix	brain
41	chr16:76811800-76812600	Enhancers	HMEC	breast
42	chr16:76812000-76812400	Enhancers	Fetal Brain Female	brain
43	chr16:76812000-76813000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:76812200-76812600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr16:76812600-76813800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:76812600-76818000	Weak transcription	HMEC	breast
47	chr16:76813000-76818800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr16:76813200-76813400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:76813400-76816800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:76813800-76814400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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