Variant report

Variant	esv3356733
Chromosome Location	chr16:80608151-80612849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr16:80611428-80611779	HepG2	liver:	n/a	n/a
2	CTCF	chr16:80611500-80611650	HCT-116	colon:	n/a	n/a
3	E2F4	chr16:80612344-80612515	MCF10A-Er-Src	breast:	n/a	n/a
4	FOXA1	chr16:80611418-80611767	HepG2	liver:	n/a	n/a
5	FOXA1	chr16:80611432-80611766	HepG2	liver:	n/a	n/a
6	FOXA1	chr16:80611435-80611837	HepG2	liver:	n/a	n/a
7	FOXA1	chr16:80611374-80611785	HepG2	liver:	n/a	n/a
8	FOXA2	chr16:80611480-80611750	HepG2	liver:	n/a	n/a
9	GATA3	chr16:80610427-80611915	MCF-7	breast:	n/a	n/a
10	GATA3	chr16:80610749-80611354	MCF-7	breast:	n/a	n/a
11	JUND	chr16:80610661-80610874	HepG2	liver:	n/a	n/a
12	KAP1	chr16:80607265-80608572	HEK293	kidney:	n/a	n/a
13	KAP1	chr16:80607281-80608387	U2OS	brain:	n/a	n/a
14	NFIC	chr16:80611439-80611773	HepG2	liver:	n/a	n/a
15	NR2F2	chr16:80610761-80611218	MCF-7	breast:	n/a	n/a
16	POLR2A	chr16:80609396-80609464	MCF10A-Er-Src	breast:	n/a	n/a
17	SUZ12	chr16:80610340-80610566	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:80598399..80600334-chr16:80611108..80613463,2	MCF-7	breast:
2	chr16:80611783..80614483-chr16:80638883..80641243,2	MCF-7	breast:
3	chr16:80573192..80575392-chr16:80605742..80608359,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260737	TF binding region
ENSG00000168589	chromatin interactions
ENSG00000259867	chromatin interactions

Extended variants
information (count: 286 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182610367	chr16:80608195-80608196	Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs538224841	chr16:80608205-80608206	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs185342695	chr16:80608207-80608208	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs557759301	chr16:80608208-80608209	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs539181128	chr16:80608285-80608286	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs117488691	chr16:80608290-80608291	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs566484540	chr16:80608339-80608340	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs191372767	chr16:80608358-80608359	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs556145142	chr16:80608361-80608362	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs574368373	chr16:80608434-80608435	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs544827738	chr16:80608440-80608441	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139820997	chr16:80608452-80608453	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs540151966	chr16:80608473-80608474	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs182690782	chr16:80608493-80608494	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs578101088	chr16:80608527-80608528	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs187863146	chr16:80608557-80608558	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs142882388	chr16:80608573-80608574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151053210	chr16:80608638-80608639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116316154	chr16:80608639-80608640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193105380	chr16:80608654-80608655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183862683	chr16:80608655-80608656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187583286	chr16:80608662-80608663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149924676	chr16:80608708-80608709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533109791	chr16:80608709-80608710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551229151	chr16:80608711-80608712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566570598	chr16:80608722-80608723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533801568	chr16:80608723-80608724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548986723	chr16:80608724-80608725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542503106	chr16:80608738-80608739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146530839	chr16:80608747-80608748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192008297	chr16:80608760-80608761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556766673	chr16:80608770-80608771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs578115901	chr16:80608777-80608778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184470826	chr16:80608819-80608820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188787337	chr16:80608831-80608832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77691755	chr16:80608867-80608868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542645844	chr16:80608916-80608917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560961946	chr16:80608922-80608923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78820072	chr16:80608956-80608957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544189732	chr16:80608960-80608961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562592561	chr16:80608961-80608962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192904539	chr16:80608962-80608963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533027961	chr16:80608985-80608986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184509021	chr16:80608986-80608987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560325417	chr16:80608995-80608996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189300072	chr16:80609019-80609020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553008313	chr16:80609042-80609043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549074513	chr16:80609129-80609130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76100889	chr16:80609150-80609151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567446604	chr16:80609199-80609200	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
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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80605200-80608200	Enhancers	Placenta	Placenta
2	chr16:80605400-80611200	Weak transcription	Gastric	stomach
3	chr16:80607800-80608200	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:80607800-80608200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:80609400-80610200	Weak transcription	Fetal Kidney	kidney
6	chr16:80610200-80610800	ZNF genes & repeats	Fetal Kidney	kidney
7	chr16:80611200-80612000	Enhancers	Gastric	stomach
8	chr16:80611200-80612400	Enhancers	Liver	Liver
9	chr16:80611200-80612400	Enhancers	Duodenum Mucosa	Duodenum
10	chr16:80611200-80612400	Enhancers	Fetal Intestine Small	intestine
11	chr16:80611200-80612400	Enhancers	Pancreas	Pancrea
12	chr16:80611400-80612000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr16:80611400-80612000	Enhancers	Fetal Intestine Large	intestine
14	chr16:80611400-80612000	Enhancers	Stomach Mucosa	stomach
15	chr16:80611600-80612000	Enhancers	HepG2	liver
16	chr16:80611600-80612200	Enhancers	Small Intestine	intestine
17	chr16:80611600-80614000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr16:80611800-80614000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr16:80611800-80614200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr16:80611800-80615800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr16:80612000-80612600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr16:80612000-80614200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr16:80612000-80616200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:80612200-80614000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr16:80612200-80614200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr16:80612200-80615800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr16:80612200-80616000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr16:80612200-80618600	Weak transcription	Small Intestine	intestine
29	chr16:80612400-80614000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr16:80612600-80613000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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