Variant report

Variant	esv2570262
Chromosome Location	chr1:150681575-150683080
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	CUX1	chr1:150681185-150681648	GM12878	blood:	n/a	n/a
2	GATA3	chr1:150682963-150683051	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150674686..150676800-chr1:150681691..150685110,3	K562	blood:
2	chr1:150681352..150684281-chr1:150686110..150688305,2	K562	blood:
3	chr1:150681352..150684293-chr1:150686425..150688305,2	K562	blood:

Variant related genes	Relation type
HORMAD1	TF binding region
ENSG00000143452	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148101620	chr1:150681584-150681585	Strong transcription Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs180717293	chr1:150681650-150681651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113194221	chr1:150681717-150681718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs587775590	chr1:150681724-150681725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs587670958	chr1:150681742-150681743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs587701760	chr1:150681775-150681776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs587607757	chr1:150681855-150681856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184117457	chr1:150681892-150681893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs587714898	chr1:150681895-150681896	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs587595310	chr1:150681944-150681945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs587671609	chr1:150681945-150681946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs587730570	chr1:150681973-150681974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs587634445	chr1:150682019-150682020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11579902	chr1:150682068-150682069	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs28605628	chr1:150682070-150682071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11204707	chr1:150682094-150682095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369856281	chr1:150682095-150682096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11204709	chr1:150682101-150682102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11204710	chr1:150682110-150682111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
20	rs11204711	chr1:150682115-150682116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
21	rs202187844	chr1:150682151-150682152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs200206383	chr1:150682160-150682161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs587771188	chr1:150682179-150682180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs28802901	chr1:150682198-150682199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12071245	chr1:150682215-150682216	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs375786651	chr1:150682226-150682227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs587708503	chr1:150682244-150682245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs587760890	chr1:150682268-150682269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs587636195	chr1:150682272-150682273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35354583	chr1:150682282-150682283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs587711608	chr1:150682313-150682314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs587595511	chr1:150682343-150682344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs587673335	chr1:150682376-150682377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs587714146	chr1:150682378-150682379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs587612517	chr1:150682385-150682386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs79483148	chr1:150682399-150682400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs79486014	chr1:150682408-150682409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs76979223	chr1:150682416-150682417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182184029	chr1:150682417-150682418	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77774697	chr1:150682418-150682419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79180408	chr1:150682431-150682432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs587747803	chr1:150682456-150682457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs587612994	chr1:150682458-150682459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186715436	chr1:150682463-150682464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs587754384	chr1:150682507-150682508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191679446	chr1:150682534-150682535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs587717321	chr1:150682537-150682538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182148367	chr1:150682540-150682541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs113002851	chr1:150682541-150682542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs587674676	chr1:150682566-150682567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	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
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Cancer	23975201	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150670600-150702600	Weak transcription	Hela-S3	cervix
2	chr1:150679200-150698600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:150680600-150681800	Enhancers	GM12878-XiMat	blood
4	chr1:150680800-150682600	Weak transcription	K562	blood
5	chr1:150681200-150681600	Strong transcription	A549	lung
6	chr1:150681600-150702600	Weak transcription	A549	lung
7	chr1:150682600-150683000	Enhancers	K562	blood
8	chr1:150682600-150683400	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:150683000-150683400	Weak transcription	K562	blood

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