Variant report

Variant	esv1807212
Chromosome Location	chr16:12691443-12705794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:12704032-12704253	HepG2	liver:	n/a	n/a
2	ATF1	chr16:12692604-12692867	K562	blood:	n/a	n/a
3	ATF1	chr16:12704812-12705249	K562	blood:	n/a	n/a
4	BHLHE40	chr16:12704952-12705132	K562	blood:	n/a	n/a
5	CEBPB	chr16:12705130-12705148	K562	blood:	n/a	n/a
6	CEBPB	chr16:12703999-12704306	HepG2	liver:	n/a	n/a
7	CEBPZ	chr16:12704489-12704616	HepG2	liver:	n/a	n/a
8	CTCF	chr16:12698100-12698250	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr16:12698120-12698270	HEK293	kidney:	n/a	n/a
10	CTCF	chr16:12698160-12698310	HepG2	liver:	n/a	n/a
11	CTCF	chr16:12704140-12704290	GM12871	blood:	n/a	n/a
12	CTCF	chr16:12698100-12698250	HepG2	liver:	n/a	n/a
13	CTCF	chr16:12698065-12698289	K562	blood:	n/a	n/a
14	CTCF	chr16:12698029-12698293	HepG2	liver:	n/a	n/a
15	CTCF	chr16:12698064-12698330	K562	blood:	n/a	n/a
16	EP300	chr16:12703761-12704574	HepG2	liver:	n/a	n/a
17	EP300	chr16:12704459-12704465	HepG2	liver:	n/a	n/a
18	EP300	chr16:12704918-12705316	K562	blood:	n/a	n/a
19	FOS	chr16:12704967-12705167	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr16:12704919-12705272	MCF10A-Er-Src	breast:	n/a	n/a
21	FOXA1	chr16:12703889-12704675	HepG2	liver:	n/a	n/a
22	FOXA1	chr16:12703886-12704513	HepG2	liver:	n/a	n/a
23	FOXA2	chr16:12703875-12704716	HepG2	liver:	n/a	n/a
24	FOXA2	chr16:12697963-12698242	HepG2	liver:	n/a	n/a
25	GATA3	chr16:12703953-12704304	MCF-7	breast:	n/a	n/a
26	GATA3	chr16:12703883-12704514	MCF-7	breast:	n/a	n/a
27	HDAC2	chr16:12704895-12705155	K562	blood:	n/a	n/a
28	HDAC2	chr16:12703928-12704305	HepG2	liver:	n/a	n/a
29	HMGN3	chr16:12704999-12705195	K562	blood:	n/a	n/a
30	IRF1	chr16:12705182-12705632	K562	blood:	n/a	n/a
31	IRF1	chr16:12704611-12704795	K562	blood:	n/a	n/a
32	JUN	chr16:12705697-12705815	HepG2	liver:	n/a	n/a
33	JUND	chr16:12692509-12692747	K562	blood:	n/a	n/a
34	JUND	chr16:12704944-12705313	K562	blood:	n/a	n/a
35	MAFF	chr16:12695286-12695336	HepG2	liver:	n/a	chr16:12695291-12695309
36	MAFF	chr16:12704971-12705118	K562	blood:	n/a	n/a
37	MAFK	chr16:12695179-12695364	HepG2	liver:	n/a	chr16:12695292-12695307
38	MAFK	chr16:12704367-12704458	HepG2	liver:	n/a	chr16:12704416-12704431
39	MAFK	chr16:12695206-12695340	HepG2	liver:	n/a	chr16:12695292-12695307
40	MAFK	chr16:12704139-12704513	HepG2	liver:	n/a	chr16:12704416-12704431
41	MAFK	chr16:12704692-12704734	K562	blood:	n/a	n/a
42	MAZ	chr16:12703865-12704015	HepG2	liver:	n/a	n/a
43	MYC	chr16:12694119-12694225	MCF-7	breast:	n/a	n/a
44	MYC	chr16:12696122-12696268	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr16:12695348-12695408	MCF-7	breast:	n/a	n/a
46	NFE2	chr16:12697004-12697010	GM12878	blood:	n/a	n/a
47	POLR2A	chr16:12695423-12695424	MCF-7	breast:	n/a	n/a
48	POLR2A	chr16:12704185-12704383	HepG2	liver:	n/a	n/a
49	POLR2A	chr16:12694111-12694133	MCF-7	breast:	n/a	n/a
50	POLR2A	chr16:12695338-12695420	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:12695664..12697663-chr16:12702091..12704953,2	MCF-7	breast:
2	chr16:12705693..12708514-chr16:12893374..12897390,4	K562	blood:
3	chr16:12705362..12710268-chr16:12710311..12712475,5	K562	blood:
4	chr13:55145343..55147455-chr16:12696633..12698151,2	MCF-7	breast:
5	chr16:12705693..12707355-chr16:12894687..12897390,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPPED1-2	chr16:12704595-12704901	ENSG00000259899.1

No data

Variant related genes	Relation type
ENSG00000259899	TF binding region
ENSG00000259899	chromatin interactions

Extended variants
information (count: 1321 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1321 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145899810	chr16:12695414-12695415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs377330417	chr16:12695417-12695418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371084046	chr16:12695433-12695434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs533349337	chr16:12695443-12695444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs533994639	chr16:12695450-12695451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs550242525	chr16:12695454-12695455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs568214140	chr16:12695458-12695459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138171382	chr16:12695488-12695489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs553152195	chr16:12695500-12695501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs142788046	chr16:12695510-12695511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs544973736	chr16:12695512-12695513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs373510033	chr16:12695513-12695514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs115480507	chr16:12695522-12695523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146082168	chr16:12695533-12695534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs36053312	chr16:12695534-12695535	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575514883	chr16:12695540-12695541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs577697911	chr16:12695542-12695543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs536638280	chr16:12695548-12695549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs556583146	chr16:12695553-12695554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs544543049	chr16:12695577-12695578	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs574940285	chr16:12695676-12695677	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374403524	chr16:12695677-12695678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150770964	chr16:12695680-12695681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563634124	chr16:12695684-12695685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529323157	chr16:12695690-12695691	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192638150	chr16:12695694-12695695	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111615383	chr16:12695704-12695705	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7188733	chr16:12695714-12695715	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551728078	chr16:12695725-12695726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571314659	chr16:12695726-12695727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536698269	chr16:12695729-12695730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556645559	chr16:12695762-12695763	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145275862	chr16:12695775-12695776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535874793	chr16:12695784-12695785	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374679073	chr16:12695789-12695790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183161651	chr16:12695797-12695798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11647392	chr16:12695807-12695808	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs147642382	chr16:12695811-12695812	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575520167	chr16:12695812-12695813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529573921	chr16:12695823-12695824	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114155757	chr16:12695838-12695839	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs140260912	chr16:12695840-12695841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529281529	chr16:12695849-12695850	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144184371	chr16:12695851-12695852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559985076	chr16:12695855-12695856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7198944	chr16:12695857-12695858	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs369600518	chr16:12695869-12695870	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115751053	chr16:12695871-12695872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs75180017	chr16:12695882-12695883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs117194205	chr16:12695886-12695887	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12695400-12695600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:12696600-12697200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:12697800-12703800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:12703400-12706400	Enhancers	HepG2	liver
5	chr16:12703400-12706800	Enhancers	Liver	Liver
6	chr16:12703600-12704600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr16:12703800-12704600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:12703800-12706800	Enhancers	K562	blood
9	chr16:12703800-12708000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:12704000-12704200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:12704000-12704400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:12704000-12704400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:12704000-12708800	Enhancers	Placenta	Placenta
14	chr16:12704200-12708400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:12704400-12705600	Enhancers	A549	lung
16	chr16:12704400-12707400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:12704400-12707400	Enhancers	Stomach Mucosa	stomach
18	chr16:12704600-12705000	Enhancers	HMEC	breast
19	chr16:12704600-12708200	Enhancers	NHEK	skin
20	chr16:12704800-12705000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr16:12704800-12705000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr16:12704800-12705000	Enhancers	Esophagus	oesophagus
23	chr16:12704800-12705800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr16:12704800-12707200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr16:12704800-12709400	Enhancers	Fetal Intestine Large	intestine
26	chr16:12705000-12705200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr16:12705000-12705600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr16:12705000-12706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:12705000-12706400	Weak transcription	HMEC	breast
30	chr16:12705000-12707800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr16:12705000-12709000	Enhancers	Fetal Intestine Small	intestine
32	chr16:12705400-12705600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr16:12705600-12705800	Flanking Active TSS	A549	lung
34	chr16:12705600-12706400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr16:12705600-12706800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr16:12705600-12707200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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