Variant report

Variant	esv3338924
Chromosome Location	chr1:151570753-151573301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151569138..151571685-chr1:151583171..151587169,4	MCF-7	breast:
2	1:151427826-151434310..1:151565791-151575769	K562	blood:
3	chr1:151556628..151559025-chr1:151567592..151570969,4	MCF-7	breast:
4	1:151516085-151535167..1:151565791-151575769	H1-hESC	embryonic stem cell:	embryo
5	1:151254384-151268403..1:151565791-151575769	K562	blood:
6	chr1:151569147..151571647-chr1:151575005..151576628,2	MCF-7	breast:
7	1:151496437-151509688..1:151565791-151575769	K562	blood:
8	1:151411623-151426875..1:151565791-151575769	Hela-S3	cervix:
9	1:151333184-151350267..1:151565791-151575769	GM12878	blood:
10	chr1:151511392..151513624-chr1:151569200..151573110,3	MCF-7	breast:
11	1:151565791-151575769..1:151618750-151636526	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252840	chromatin interactions
ENSG00000143416	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000250734	chromatin interactions
ENSG00000143376	chromatin interactions
ENSG00000143373	chromatin interactions
ENSG00000207606	chromatin interactions
ENSG00000143375	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000143393	chromatin interactions
ENSG00000232671	chromatin interactions
ENSG00000223861	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1781415	chr1:151570782-151570783	Weak transcription	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115135388	chr1:151570815-151570816	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs150988446	chr1:151570823-151570824	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs71625125	chr1:151570854-151570855	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs373716448	chr1:151570869-151570870	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs563323370	chr1:151570891-151570892	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs183830124	chr1:151570915-151570916	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs546706362	chr1:151570931-151570932	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs552115020	chr1:151570936-151570937	Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs1781414	chr1:151571047-151571048	Weak transcription	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs188431498	chr1:151571068-151571069	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs140848673	chr1:151571069-151571070	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs567957942	chr1:151571100-151571101	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs536845585	chr1:151571101-151571102	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs556242470	chr1:151571108-151571109	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs576087790	chr1:151571111-151571112	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs150135107	chr1:151571139-151571140	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs145537880	chr1:151571143-151571144	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs556959086	chr1:151571151-151571152	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs141219764	chr1:151571171-151571172	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs146931662	chr1:151571240-151571241	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs541749509	chr1:151571247-151571248	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs182082691	chr1:151571265-151571266	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs185790494	chr1:151571285-151571286	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs189919351	chr1:151571316-151571317	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs386635416	chr1:151571328-151571329	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs144111802	chr1:151571329-151571330	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs537788890	chr1:151571331-151571332	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs532215718	chr1:151571374-151571375	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs551966632	chr1:151571412-151571413	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs182072219	chr1:151571492-151571493	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs528067022	chr1:151571499-151571500	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs548513577	chr1:151571501-151571502	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs556087897	chr1:151571510-151571511	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs530628206	chr1:151571527-151571528	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs550327706	chr1:151571600-151571601	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs371636095	chr1:151571602-151571603	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs570288474	chr1:151571622-151571623	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs71090194	chr1:151571625-151571626	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs539157394	chr1:151571627-151571628	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs200747118	chr1:151571632-151571633	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs558772496	chr1:151571681-151571682	Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs201879857	chr1:151571687-151571688	Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs185288904	chr1:151571688-151571689	Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs78978563	chr1:151571702-151571703	Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs148370527	chr1:151571707-151571708	Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs7532867	chr1:151571713-151571714	Weak transcription	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs112544989	chr1:151571749-151571750	Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs373320736	chr1:151571755-151571756	Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs148928231	chr1:151571756-151571757	Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151555400-151580800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:151566600-151574200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:151566800-151572000	Weak transcription	Fetal Heart	heart
4	chr1:151569600-151574200	Weak transcription	HepG2	liver
5	chr1:151569800-151570800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:151570200-151574200	Weak transcription	K562	blood
7	chr1:151570200-151578600	Weak transcription	A549	lung
8	chr1:151570400-151578600	Weak transcription	Hela-S3	cervix
9	chr1:151570800-151571000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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