Variant report

Variant	esv3507984
Chromosome Location	chr16:71327699-71330429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:71330009-71330059	Fibrobl	skin:	n/a	n/a
2	EP300	chr16:71330392-71331113	HepG2	liver:	n/a	n/a
3	FOS	chr16:71328022-71328056	MCF10A-Er-Src	breast:	n/a	n/a
4	FOXA1	chr16:71330369-71330756	HepG2	liver:	n/a	n/a
5	FOXA1	chr16:71330362-71330757	HepG2	liver:	n/a	n/a
6	HNF4A	chr16:71330427-71330784	HepG2	liver:	n/a	n/a
7	MYBL2	chr16:71330297-71330952	HepG2	liver:	n/a	n/a
8	MYBL2	chr16:71330412-71330904	HepG2	liver:	n/a	n/a
9	NFIC	chr16:71330374-71330996	HepG2	liver:	n/a	n/a
10	PBX3	chr16:71327760-71328173	SK-N-SH	brain:	n/a	n/a
11	RCOR1	chr16:71330280-71330772	HepG2	liver:	n/a	n/a
12	SP1	chr16:71330346-71331139	HepG2	liver:	n/a	n/a
13	TCF12	chr16:71327683-71328385	SK-N-SH	brain:	n/a	n/a
14	TCF12	chr16:71327698-71328321	SK-N-SH	brain:	n/a	n/a
15	TEAD4	chr16:71330271-71331149	HepG2	liver:	n/a	chr16:71330319-71330328
16	ZEB1	chr16:71330283-71330916	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71329803..71331384-chr16:71332650..71335143,3	K562	blood:
2	chr16:71112032..71113986-chr16:71329275..71331950,2	K562	blood:
3	chr16:71326824..71329665-chr16:71329816..71331484,2	K562	blood:
4	chr16:71298409..71299917-chr16:71325907..71328293,2	K562	blood:
5	chr16:71326824..71329665-chr16:71329816..71331484,2	K562	blood:

No data

Variant related genes	Relation type
CMTR2	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540199455	chr16:71327705-71327706	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs77278915	chr16:71327715-71327716	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs74518723	chr16:71327726-71327727	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs529612542	chr16:71327778-71327779	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs564846106	chr16:71327820-71327821	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs145515955	chr16:71327868-71327869	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs112856250	chr16:71327893-71327894	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs550366122	chr16:71327903-71327904	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562392750	chr16:71327918-71327919	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs529832922	chr16:71327987-71327988	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs12708908	chr16:71327988-71327989	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566739774	chr16:71328005-71328006	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs12708909	chr16:71328045-71328046	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12708910	chr16:71328086-71328087	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs3114640	chr16:71328097-71328098	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539086860	chr16:71328104-71328105	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs12708911	chr16:71328140-71328141	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534723343	chr16:71328158-71328159	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs113189843	chr16:71328170-71328171	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs200248077	chr16:71328172-71328173	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs182013363	chr16:71328199-71328200	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs573450672	chr16:71328204-71328205	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555054644	chr16:71328232-71328233	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs568541392	chr16:71328243-71328244	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs140972544	chr16:71328270-71328271	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576429105	chr16:71328301-71328302	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs12935784	chr16:71328321-71328322	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs2883928	chr16:71328350-71328351	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs557310730	chr16:71328380-71328381	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs186303426	chr16:71328387-71328388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113285037	chr16:71328406-71328407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529868670	chr16:71328407-71328408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577198430	chr16:71328435-71328436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541594466	chr16:71328447-71328448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560201877	chr16:71328489-71328490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527537920	chr16:71328557-71328558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546677694	chr16:71328573-71328574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367949912	chr16:71328615-71328616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144892651	chr16:71328634-71328635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190317532	chr16:71328661-71328662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551127853	chr16:71328675-71328676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149040956	chr16:71328744-71328745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370406694	chr16:71328747-71328748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114062676	chr16:71328755-71328756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555105572	chr16:71328835-71328836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183760136	chr16:71328860-71328861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143071941	chr16:71328895-71328896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558979772	chr16:71328898-71328899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs57960771	chr16:71329093-71329094	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543785939	chr16:71329116-71329117	Weak transcription	n/a	n/a	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71324000-71327800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:71326200-71327800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:71326800-71329000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr16:71327600-71328600	Enhancers	NHEK	skin
5	chr16:71327800-71328600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr16:71327800-71328600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:71329000-71330400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:71330000-71330400	Enhancers	Liver	Liver
9	chr16:71330000-71331800	Enhancers	HepG2	liver
10	chr16:71330400-71330600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr16:71330400-71331400	Flanking Active TSS	Liver	Liver

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