Variant report

Variant	esv3320610
Chromosome Location	chr1:112983417-112987677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:112984512..112987342-chr1:113013542..113016072,2	MCF-7	breast:
2	chr1:112967128..112969629-chr1:112981211..112983831,2	K562	blood:
3	chr1:112973405..112975410-chr1:112980572..112983534,2	MCF-7	breast:
4	chr1:112983699..112985541-chr1:112987960..112989566,2	K562	blood:
5	chr1:112981054..112982976-chr1:112986896..112988745,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367543828	chr1:112983480-112983481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114065450	chr1:112983496-112983497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553129137	chr1:112983497-112983498	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572635074	chr1:112983510-112983511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200489544	chr1:112983544-112983545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375019503	chr1:112983545-112983546	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs397700446	chr1:112983547-112983548	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199752808	chr1:112983548-112983549	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111700425	chr1:112983643-112983644	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371633864	chr1:112983721-112983722	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145610730	chr1:112983739-112983740	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532431724	chr1:112983744-112983745	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544130044	chr1:112983761-112983762	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575128307	chr1:112983791-112983792	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544190092	chr1:112983806-112983807	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35461580	chr1:112983814-112983815	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116746209	chr1:112983815-112983816	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529872327	chr1:112983832-112983833	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114914416	chr1:112983842-112983843	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116406205	chr1:112983879-112983880	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572383750	chr1:112983968-112983969	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551903037	chr1:112983980-112983981	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571554611	chr1:112983982-112983983	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184060973	chr1:112984055-112984056	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551012189	chr1:112984100-112984101	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140446265	chr1:112984109-112984110	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529888304	chr1:112984131-112984132	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375609334	chr1:112984272-112984273	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs144200210	chr1:112984273-112984274	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs189038837	chr1:112984275-112984276	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs536529892	chr1:112984365-112984366	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200638770	chr1:112984369-112984370	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567692017	chr1:112984373-112984374	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs34857693	chr1:112984404-112984405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76169572	chr1:112984430-112984431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538347308	chr1:112984478-112984479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558187371	chr1:112984552-112984553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146532715	chr1:112984567-112984568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544168963	chr1:112984679-112984680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2488789	chr1:112984692-112984693	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs574713120	chr1:112984717-112984718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540523717	chr1:112984718-112984719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578205808	chr1:112984749-112984750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527324959	chr1:112984768-112984769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141224874	chr1:112984852-112984853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532300282	chr1:112984996-112984997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545529616	chr1:112985017-112985018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565350654	chr1:112985076-112985077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191532118	chr1:112985083-112985084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550987276	chr1:112985087-112985088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112942400-112988200	Weak transcription	Small Intestine	intestine
2	chr1:112952400-112990600	Weak transcription	Esophagus	oesophagus
3	chr1:112957400-112986600	Weak transcription	NHLF	lung
4	chr1:112957600-112997600	Weak transcription	Brain Anterior Caudate	brain
5	chr1:112959600-112991600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:112959800-112992800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:112960000-112995200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:112960000-112996800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:112960200-112991600	Weak transcription	Hela-S3	cervix
10	chr1:112960400-112991400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:112961200-112995600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:112961800-112986800	Weak transcription	HMEC	breast
13	chr1:112962000-112990800	Weak transcription	Fetal Brain Male	brain
14	chr1:112962600-112990400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:112962600-112991600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:112965800-112986400	Weak transcription	NHDF-Ad	bronchial
17	chr1:112965800-112996200	Weak transcription	Placenta	Placenta
18	chr1:112967000-112991600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:112968600-112986600	Weak transcription	NHEK	skin
20	chr1:112968600-112987400	Weak transcription	Fetal Intestine Large	intestine
21	chr1:112968600-112987600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:112968600-112990600	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:112968600-112994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:112968600-112995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:112968600-112995600	Weak transcription	Colonic Mucosa	Colon
26	chr1:112972200-112991400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:112973400-112985400	Weak transcription	Left Ventricle	heart
28	chr1:112973600-112988800	Weak transcription	Lung	lung
29	chr1:112974000-112997000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:112975600-112984200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:112976200-112994200	Weak transcription	Psoas Muscle	Psoas
32	chr1:112977600-112986600	Weak transcription	NH-A	brain
33	chr1:112979400-112988800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:112979600-112990000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:112979600-112990800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:112979600-112998600	Weak transcription	Right Ventricle	heart
37	chr1:112979600-112998600	Weak transcription	Spleen	Spleen
38	chr1:112979800-112983800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:112979800-112983800	Weak transcription	Fetal Kidney	kidney
40	chr1:112979800-112986000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:112979800-112986000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:112979800-112986200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:112979800-112986400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:112979800-112987400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:112979800-112987600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:112979800-112990800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:112979800-112992000	Weak transcription	Brain Angular Gyrus	brain
48	chr1:112979800-112992200	Weak transcription	Brain Germinal Matrix	brain
49	chr1:112980000-112988200	Weak transcription	GM12878-XiMat	blood
50	chr1:112981000-112997200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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