Variant report

Variant	esv3342019
Chromosome Location	chr1:113440679-113442927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113442871..113445131-chr1:113497859..113500702,2	K562	blood:
2	chr1:113439726..113442354-chr1:113496714..113499544,2	K562	blood:
3	chr1:113432563..113435506-chr1:113438129..113441050,2	K562	blood:
4	chr1:113441801..113445545-chr1:113447072..113449494,3	K562	blood:
5	chr1:113442578..113444928-chr1:113615994..113617542,2	K562	blood:
6	chr1:113441028..113443640-chr1:113445198..113447610,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155380	chromatin interactions
ENSG00000228040	chromatin interactions
ENSG00000226419	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541929589	chr1:113440774-113440775	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs376633721	chr1:113440787-113440788	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs9662796	chr1:113441092-113441093	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs112663955	chr1:113441381-113441382	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs372781838	chr1:113441495-113441496	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs201144974	chr1:113441562-113441563	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs539700824	chr1:113441576-113441577	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs13043149	chr1:113441579-113441580	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535504493	chr1:113441591-113441592	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs559346850	chr1:113441599-113441600	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369741901	chr1:113441647-113441648	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs558533605	chr1:113441688-113441689	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs537474298	chr1:113441701-113441702	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs543874203	chr1:113441724-113441725	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7512895	chr1:113441738-113441739	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs574018982	chr1:113441762-113441763	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs373086150	chr1:113441833-113441834	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559238378	chr1:113441838-113441839	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184542168	chr1:113441854-113441855	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs572748871	chr1:113441978-113441979	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs542814513	chr1:113441994-113441995	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs561525764	chr1:113442001-113442002	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs564870190	chr1:113442003-113442004	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs530403774	chr1:113442005-113442006	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs144559454	chr1:113442006-113442007	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs560955173	chr1:113442055-113442056	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs529713749	chr1:113442071-113442072	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs377234533	chr1:113442150-113442151	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546677781	chr1:113442195-113442196	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs190069469	chr1:113442197-113442198	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs535272135	chr1:113442218-113442219	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs543446912	chr1:113442221-113442222	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs72683432	chr1:113442300-113442301	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs371408804	chr1:113442337-113442338	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs113960257	chr1:113442354-113442355	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs77496340	chr1:113442402-113442403	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573984287	chr1:113442420-113442421	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536345132	chr1:113442426-113442427	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553472426	chr1:113442455-113442456	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572686949	chr1:113442456-113442457	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146630612	chr1:113442464-113442465	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564759521	chr1:113442473-113442474	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563171296	chr1:113442509-113442510	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532108547	chr1:113442523-113442524	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140248869	chr1:113442524-113442525	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531930019	chr1:113442573-113442574	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368565291	chr1:113442663-113442664	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11102560	chr1:113442671-113442672	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs182128381	chr1:113442702-113442703	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560321385	chr1:113442709-113442710	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113437200-113446800	Weak transcription	HUVEC	blood vessel
2	chr1:113438000-113442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:113439200-113441000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:113439200-113445800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:113439200-113446000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:113439200-113459200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:113439200-113460400	Weak transcription	Aorta	Aorta
8	chr1:113439400-113447800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:113439800-113442000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:113440200-113456400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:113440400-113459600	Weak transcription	Primary T cells from cord blood	blood
12	chr1:113442000-113443000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:113442200-113442400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr1:113442200-113442400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:113442200-113442400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:113442200-113442400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:113442200-113442400	Enhancers	HepG2	liver
18	chr1:113442200-113442400	Enhancers	HMEC	breast
19	chr1:113442200-113442800	Enhancers	Stomach Mucosa	stomach
20	chr1:113442400-113443800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:113442400-113445000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:113442400-113445600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:113442600-113443800	Weak transcription	HepG2	liver
24	chr1:113442600-113444000	Weak transcription	HMEC	breast
25	chr1:113442800-113443800	Weak transcription	Stomach Mucosa	stomach

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