Variant report

Variant	esv16192
Chromosome Location	chr16:74408882-74430563
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	CTCF	chr16:74428900-74429050	GM12866	blood:	n/a	n/a
2	CTCF	chr16:74429054-74429211	GM12892	blood:	n/a	n/a
3	CTCF	chr16:74428920-74429070	GM12865	blood:	n/a	n/a
4	CTCF	chr16:74428940-74429090	GM06990	blood:	n/a	n/a
5	CTCF	chr16:74429074-74429151	GM19240	blood:	n/a	n/a
6	ELF1	chr16:74430410-74430702	K562	blood:	n/a	n/a
7	FOS	chr16:74416231-74416418	MCF10A-Er-Src	breast:	n/a	chr16:74416368-74416377
8	FOS	chr16:74416225-74416419	MCF10A-Er-Src	breast:	n/a	chr16:74416368-74416377
9	FOS	chr16:74416220-74416420	MCF10A-Er-Src	breast:	n/a	chr16:74416368-74416377
10	FOSL2	chr16:74427546-74427796	HepG2	liver:	n/a	n/a
11	FOSL2	chr16:74426745-74427124	HepG2	liver:	n/a	chr16:74426968-74426976
12	FOSL2	chr16:74425650-74425949	HepG2	liver:	n/a	n/a
13	FOSL2	chr16:74428997-74429323	HepG2	liver:	n/a	n/a
14	GATA2	chr16:74425447-74425716	K562	blood:	n/a	n/a
15	JUND	chr16:74420890-74421060	HepG2	liver:	n/a	n/a
16	JUND	chr16:74426411-74426575	HepG2	liver:	n/a	n/a
17	JUND	chr16:74425592-74425711	HepG2	liver:	n/a	n/a
18	JUND	chr16:74425703-74425906	HepG2	liver:	n/a	n/a
19	JUND	chr16:74416218-74416425	HepG2	liver:	n/a	chr16:74416368-74416377
20	MYC	chr16:74430562-74430604	HUVEC	blood vessel:	n/a	n/a
21	PAX5	chr16:74425553-74425930	GM12878	blood:	n/a	n/a
22	PBX3	chr16:74428980-74429149	GM12878	blood:	n/a	n/a
23	PBX3	chr16:74420269-74420378	GM12878	blood:	n/a	n/a
24	POLR2A	chr16:74411105-74411605	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr16:74427529-74427895	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr16:74427563-74428021	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr16:74411359-74411508	GM12891	blood:	n/a	n/a
28	POLR2A	chr16:74426809-74427019	HepG2	liver:	n/a	n/a
29	POLR2A	chr16:74411306-74411523	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr16:74411325-74411503	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr16:74426844-74426972	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr16:74411250-74411593	H1-hESC	embryonic stem cell:	n/a	n/a
33	RCOR1	chr16:74425368-74425635	K562	blood:	n/a	n/a
34	SIN3AK20	chr16:74426846-74426958	HepG2	liver:	n/a	n/a
35	TAF1	chr16:74411174-74411514	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr16:74411092-74411582	H1-hESC	embryonic stem cell:	n/a	n/a
37	USF1	chr16:74427736-74427857	HepG2	liver:	n/a	chr16:74427817-74427828

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC18B-1	chr16:74411388-74411587	XLOC_012009
2	lnc-CLEC18B-1	chr16:74411642-74411717	XLOC_012009

Variant related genes	Relation type
NPIPB15	TF binding region

Extended variants
information (count: 694 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:694 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62055192	chr16:74408919-74408920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568046163	chr16:74408933-74408934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374522429	chr16:74408966-74408967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533903307	chr16:74408985-74408986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367819401	chr16:74409022-74409023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547485909	chr16:74409092-74409093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570670039	chr16:74409097-74409098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3972002	chr16:74409135-74409136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539596124	chr16:74409139-74409140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556320989	chr16:74409165-74409166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576299636	chr16:74409166-74409167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3972001	chr16:74409183-74409184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535726786	chr16:74409227-74409228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200911188	chr16:74409319-74409320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555508998	chr16:74409354-74409355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572081803	chr16:74409362-74409363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370170443	chr16:74409394-74409395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541144917	chr16:74409436-74409437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374106324	chr16:74409448-74409449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564198167	chr16:74409461-74409462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577817737	chr16:74409485-74409486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112008485	chr16:74409499-74409500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543701133	chr16:74409531-74409532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3972012	chr16:74409582-74409583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77035848	chr16:74409591-74409592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76008389	chr16:74409600-74409601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563894300	chr16:74409614-74409615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529594054	chr16:74409731-74409732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543283515	chr16:74409771-74409772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371982904	chr16:74409798-74409799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561687139	chr16:74409799-74409800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527245453	chr16:74409812-74409813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375649648	chr16:74409890-74409891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547518784	chr16:74410252-74410253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368234368	chr16:74410263-74410264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76998024	chr16:74410278-74410279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570609518	chr16:74410444-74410445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62055193	chr16:74410477-74410478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549744197	chr16:74410495-74410496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569814319	chr16:74410576-74410577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535409676	chr16:74410585-74410586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555210465	chr16:74410596-74410597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565747553	chr16:74410627-74410628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200064689	chr16:74410663-74410664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534651126	chr16:74410714-74410715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369765062	chr16:74410822-74410823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373349349	chr16:74410912-74410913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375762601	chr16:74410925-74410926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201019621	chr16:74410969-74410970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373300213	chr16:74411070-74411071	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	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	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

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74403000-74440600	Weak transcription	Right Atrium	heart
2	chr16:74416200-74416800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:74416400-74416800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:74416400-74416800	Enhancers	Primary T cells from cord blood	blood
5	chr16:74416400-74416800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr16:74416400-74416800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:74423800-74430400	Weak transcription	Ovary	ovary
8	chr16:74423800-74431400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:74423800-74432400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr16:74424000-74430800	Weak transcription	Brain Anterior Caudate	brain
11	chr16:74424600-74430400	Weak transcription	Adipose Nuclei	Adipose
12	chr16:74425400-74425800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:74425400-74429200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr16:74425400-74429800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr16:74429200-74432400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:74429200-74432600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:74429800-74430200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr16:74429800-74430800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:74429800-74430800	Enhancers	Fetal Kidney	kidney
20	chr16:74429800-74431000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:74429800-74431000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr16:74429800-74431000	Enhancers	Fetal Muscle Trunk	muscle
23	chr16:74429800-74432600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:74429800-74432600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr16:74430000-74430800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:74430200-74431000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:74430200-74431000	Enhancers	Fetal Muscle Leg	muscle
28	chr16:74430400-74430600	Enhancers	Rectal Smooth Muscle	rectum
29	chr16:74430400-74430600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr16:74430400-74430800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:74430400-74430800	Enhancers	Adipose Nuclei	Adipose
32	chr16:74430400-74430800	Enhancers	Fetal Lung	lung
33	chr16:74430400-74431000	Enhancers	Fetal Brain Female	brain
34	chr16:74430400-74431000	Enhancers	Ovary	ovary
35	chr16:74430400-74432400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr16:74430400-74433000	Enhancers	Fetal Stomach	stomach
37	chr16:74430400-74433000	Enhancers	HUVEC	blood vessel

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