Variant report

Variant	esv3520381
Chromosome Location	chr1:185009798-185011741
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	CEBPB	chr1:185010103-185010393	K562	blood:	n/a	chr1:185010245-185010256
2	CEBPB	chr1:185010099-185010331	HepG2	liver:	n/a	chr1:185010245-185010256
3	GATA3	chr1:185010658-185010823	SH-SY5Y	brain:	n/a	chr1:185010748-185010757
4	POLR2A	chr1:185009472-185009897	SK-N-MC	brain:	n/a	n/a
5	ZNF384	chr1:185010197-185010384	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:185010943..185013509-chr1:185124566..185127368,2	MCF-7	breast:
2	chr1:184983211..184985118-chr1:185007746..185010406,2	K562	blood:
3	chr1:185010303..185011857-chr1:185026196..185028630,2	K562	blood:
4	chr1:185000396..185004587-chr1:185007338..185010464,3	K562	blood:
5	chr1:185010844..185012522-chr1:185016130..185018992,2	MCF-7	breast:
6	chr1:185010099..185012707-chr1:185046027..185047994,2	K562	blood:
7	chr1:185009803..185012714-chr1:185013040..185014804,2	MCF-7	breast:

Variant related genes	Relation type
RNF2	TF binding region
ENSG00000116668	chromatin interactions
ENSG00000201312	chromatin interactions
ENSG00000121486	chromatin interactions
ENSG00000121481	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555909976	chr1:185009802-185009803	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372630294	chr1:185009806-185009807	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs375322704	chr1:185009807-185009808	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs542646530	chr1:185009851-185009852	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs535041514	chr1:185009955-185009956	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs74646539	chr1:185009965-185009966	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs578183135	chr1:185009987-185009988	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs560013325	chr1:185009988-185009989	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs372915988	chr1:185010010-185010011	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs575472079	chr1:185010024-185010025	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs111679169	chr1:185010060-185010061	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531888901	chr1:185010066-185010067	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs147713217	chr1:185010111-185010112	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs142839922	chr1:185010147-185010148	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs138777971	chr1:185010177-185010178	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs564758004	chr1:185010181-185010182	Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs113589543	chr1:185010219-185010220	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs111870157	chr1:185010250-185010251	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs369994745	chr1:185010256-185010257	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs34739467	chr1:185010294-185010295	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs376089128	chr1:185010305-185010306	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs372464482	chr1:185010312-185010313	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs529920793	chr1:185010324-185010325	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs181446977	chr1:185010333-185010334	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs567765502	chr1:185010347-185010348	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs75667267	chr1:185010368-185010369	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs141599317	chr1:185010378-185010379	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs565493372	chr1:185010386-185010387	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs185935805	chr1:185010420-185010421	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527266709	chr1:185010471-185010472	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371099362	chr1:185010477-185010478	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75329977	chr1:185010493-185010494	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575386490	chr1:185010629-185010630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190036916	chr1:185010642-185010643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554332770	chr1:185010679-185010680	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs572873889	chr1:185010706-185010707	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs540002208	chr1:185010714-185010715	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs564888846	chr1:185010746-185010747	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs551501783	chr1:185010757-185010758	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs374007417	chr1:185010759-185010760	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs576918345	chr1:185010804-185010805	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566439664	chr1:185010892-185010893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112304781	chr1:185010969-185010970	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs183111451	chr1:185010999-185011000	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs562795150	chr1:185011192-185011193	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs527320179	chr1:185011226-185011227	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs76943062	chr1:185011239-185011240	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs529882092	chr1:185011294-185011295	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs187843795	chr1:185011307-185011308	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs150904814	chr1:185011327-185011328	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185008600-185010200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:185009000-185010600	Enhancers	Primary hematopoietic stem cells	blood
3	chr1:185009000-185010600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:185009400-185010200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:185009400-185011000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:185009600-185010200	Enhancers	Fetal Muscle Leg	muscle
7	chr1:185010000-185010600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:185010200-185010400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:185010200-185014000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:185010200-185014000	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:185010400-185010600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:185010400-185010600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:185010600-185011000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:185010600-185013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:185010600-185014000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:185010600-185014000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:185010600-185014000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:185011000-185014000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:185011000-185014000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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