Variant report

Variant	esv3510338
Chromosome Location	chr14:106252705-106304836
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	BHLHE40	chr14:106267595-106267837	K562	blood:	n/a	n/a
2	BHLHE40	chr14:106302852-106302870	GM12878	blood:	n/a	n/a
3	BHLHE40	chr14:106284335-106284788	GM12878	blood:	n/a	n/a
4	BHLHE40	chr14:106267341-106267400	HepG2	liver:	n/a	n/a
5	CBX3	chr14:106267503-106267828	K562	blood:	n/a	n/a
6	CBX3	chr14:106267541-106267834	K562	blood:	n/a	n/a
7	CBX3	chr14:106267457-106267834	HCT-116	colon:	n/a	n/a
8	CHD2	chr14:106302397-106303072	GM12878	blood:	n/a	n/a
9	CHD2	chr14:106284310-106285024	GM12878	blood:	n/a	n/a
10	CHD2	chr14:106285294-106285308	GM12878	blood:	n/a	n/a
11	CHD2	chr14:106301716-106302109	GM12878	blood:	n/a	n/a
12	CHD2	chr14:106303442-106304093	GM12878	blood:	n/a	n/a
13	CTCF	chr14:106283480-106283630	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr14:106282780-106282930	BE2_C	brain:	n/a	n/a
15	CTCF	chr14:106296641-106296770	HepG2	liver:	n/a	n/a
16	CTCF	chr14:106302571-106302812	GM19239	blood:	n/a	n/a
17	CTCF	chr14:106296640-106296790	HepG2	liver:	n/a	n/a
18	CTCF	chr14:106265265-106265327	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr14:106296688-106296747	GM19240	blood:	n/a	n/a
20	CTCF	chr14:106296620-106296770	NB4	blood:	n/a	n/a
21	CTCF	chr14:106270160-106270202	LNCaP	prostate:	n/a	n/a
22	CTCF	chr14:106302610-106302671	GM12891	blood:	n/a	n/a
23	CTCF	chr14:106296684-106296778	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:106296685-106296725	HepG2	liver:	n/a	n/a
25	CTCF	chr14:106296690-106296758	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:106296673-106296768	GM12891	blood:	n/a	n/a
27	CTCF	chr14:106296622-106296795	GM19238	blood:	n/a	n/a
28	CTCF	chr14:106296671-106296740	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:106296769-106296772	GM19239	blood:	n/a	n/a
30	CUX1	chr14:106267373-106267736	K562	blood:	n/a	n/a
31	CUX1	chr14:106284307-106284507	GM12878	blood:	n/a	n/a
32	EBF1	chr14:106284221-106285349	GM12878	blood:	n/a	chr14:106284927-106284938 chr14:106285019-106285029 chr14:106285017-106285030 chr14:106284979-106284990 chr14:106284928-106284938 chr14:106285019-106285028
33	EBF1	chr14:106284223-106285167	GM12878	blood:	n/a	chr14:106284927-106284938 chr14:106285019-106285029 chr14:106285017-106285030 chr14:106284979-106284990 chr14:106284928-106284938 chr14:106285019-106285028
34	EBF1	chr14:106284815-106285037	GM12878	blood:	n/a	chr14:106284927-106284938 chr14:106285019-106285029 chr14:106285017-106285030 chr14:106284979-106284990 chr14:106284928-106284938 chr14:106285019-106285028
35	EGR1	chr14:106284272-106284566	ECC-1	luminal epithelium:	n/a	n/a
36	EP300	chr14:106267441-106267774	K562	blood:	n/a	n/a
37	EP300	chr14:106260318-106260490	GM12878	blood:	n/a	n/a
38	EP300	chr14:106284028-106284825	ECC-1	luminal epithelium:	n/a	n/a
39	EP300	chr14:106284337-106284875	GM12878	blood:	n/a	n/a
40	EP300	chr14:106284281-106285072	GM12878	blood:	n/a	n/a
41	EP300	chr14:106284236-106284987	GM12878	blood:	n/a	n/a
42	EP300	chr14:106284193-106284743	ECC-1	luminal epithelium:	n/a	n/a
43	ESR1	chr14:106284247-106284597	ECC-1	luminal epithelium:	n/a	n/a
44	ESR1	chr14:106284110-106284734	ECC-1	luminal epithelium:	n/a	n/a
45	ESR1	chr14:106284087-106284733	ECC-1	luminal epithelium:	n/a	n/a
46	ESR1	chr14:106292608-106292762	T-47D	breast:	n/a	n/a
47	ESR1	chr14:106284185-106284726	ECC-1	luminal epithelium:	n/a	n/a
48	ESR1	chr14:106284218-106284680	ECC-1	luminal epithelium:	n/a	n/a
49	ESR1	chr14:106284268-106284621	ECC-1	luminal epithelium:	n/a	n/a
50	ESRRA	chr14:106267226-106267965	GM12878	blood:	n/a	chr14:106267793-106267811

No.	Distal block	Cell Line	Cell type
1	chr14:106275048..106276567-chr14:106290274..106293230,2	MCF-7	breast:
2	chr14:106275048..106276567-chr14:106290274..106293230,2	MCF-7	breast:
3	chr14:106276485..106277986-chr14:106279543..106281690,2	MCF-7	breast:
4	chr14:106272339..106275249-chr14:106284061..106286088,2	MCF-7	breast:
5	chr14:106287731..106289344-chr14:106305806..106307641,2	MCF-7	breast:
6	chr14:106272339..106275249-chr14:106284061..106286088,2	MCF-7	breast:
7	chr14:106276485..106277986-chr14:106279543..106281690,2	MCF-7	breast:
8	chr12:125397315..125399250-chr14:106297763..106299810,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270371	TF binding region
ENSG00000150991	chromatin interactions

Extended variants
information (count: 751 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:751 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74093886	chr14:106252792-106252793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570234698	chr14:106252823-106252824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35328557	chr14:106252850-106252851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141141604	chr14:106252872-106252873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537310900	chr14:106252953-106252954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139904936	chr14:106252996-106252997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10145102	chr14:106253092-106253093	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs79549442	chr14:106253176-106253177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2725176	chr14:106253183-106253184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150910438	chr14:106259229-106259230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs562311952	chr14:106259249-106259250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs189569467	chr14:106259285-106259286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551343551	chr14:106259346-106259347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs560572730	chr14:106259388-106259389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs192974329	chr14:106259405-106259406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs549482847	chr14:106259433-106259434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs567746586	chr14:106259438-106259439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs184293141	chr14:106259439-106259440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369691669	chr14:106259482-106259483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs188349876	chr14:106259486-106259487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs367657149	chr14:106259537-106259538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs550419906	chr14:106259631-106259632	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12894831	chr14:106259642-106259643	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539328965	chr14:106259650-106259651	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117111862	chr14:106259698-106259699	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138363494	chr14:106259749-106259750	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78627922	chr14:106259753-106259754	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79574199	chr14:106259769-106259770	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2753578	chr14:106259853-106259854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149247867	chr14:106259854-106259855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565296663	chr14:106259914-106259915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147366311	chr14:106259928-106259929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543854384	chr14:106259992-106259993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181836580	chr14:106260018-106260019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577404761	chr14:106260021-106260022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75048221	chr14:106260032-106260033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557605975	chr14:106260047-106260048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571226416	chr14:106260073-106260074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560165120	chr14:106260156-106260157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527718711	chr14:106260187-106260188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186449495	chr14:106260226-106260227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561238398	chr14:106260228-106260229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371409933	chr14:106260242-106260243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188913624	chr14:106260256-106260257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77269068	chr14:106260258-106260259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531845769	chr14:106260303-106260304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550258997	chr14:106260308-106260309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571910353	chr14:106260312-106260313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538855265	chr14:106260331-106260332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181711775	chr14:106260339-106260340	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
cataract	16735990	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Williams Syndrome	20824207	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:106251800-106253200	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:106259200-106259800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
3	chr14:106259600-106260800	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:106259600-106261000	Enhancers	Primary B cells from cord blood	blood
5	chr14:106259800-106260400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr14:106259800-106260600	Enhancers	Primary hematopoietic stem cells	blood
7	chr14:106259800-106260600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:106260000-106260400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:106260400-106263000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:106263000-106263600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:106263200-106263600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:106269800-106270200	Enhancers	Primary B cells from peripheral blood	blood
13	chr14:106272600-106273200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:106276200-106277000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr14:106281200-106284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:106281200-106285800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:106281600-106288200	Enhancers	Primary hematopoietic stem cells	blood
18	chr14:106281800-106288800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:106282000-106284800	Enhancers	Primary B cells from peripheral blood	blood
20	chr14:106282000-106288200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr14:106282600-106282800	Enhancers	Primary B cells from cord blood	blood
22	chr14:106282800-106283400	Weak transcription	Primary B cells from cord blood	blood
23	chr14:106283400-106288400	Enhancers	Primary B cells from cord blood	blood
24	chr14:106284000-106285800	Enhancers	GM12878-XiMat	blood
25	chr14:106284000-106286800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:106284600-106285000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr14:106284600-106285400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:106284800-106285400	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr14:106285400-106287200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:106285400-106288200	Enhancers	Primary B cells from peripheral blood	blood
31	chr14:106287200-106287400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:106287400-106287600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:106287600-106287800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:106287800-106290400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:106288200-106289400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr14:106288800-106289200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:106289200-106290400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:106289400-106289600	Enhancers	Primary B cells from peripheral blood	blood
39	chr14:106296200-106297000	Weak transcription	Primary B cells from cord blood	blood
40	chr14:106296400-106297200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:106296400-106297600	Enhancers	Primary B cells from peripheral blood	blood
42	chr14:106296600-106297000	Enhancers	Fetal Thymus	thymus
43	chr14:106296800-106297600	Enhancers	Thymus	Thymus
44	chr14:106297000-106297400	Strong transcription	Primary B cells from cord blood	blood
45	chr14:106297200-106304400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:106297400-106304400	Weak transcription	Primary B cells from cord blood	blood
47	chr14:106297600-106301200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr14:106299800-106309800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr14:106301000-106303800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:106301000-106306000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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