Variant report

Variant	esv3529665
Chromosome Location	chr1:119107554-119108788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119100585..119102807-chr1:119107328..119110035,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537370937	chr1:119107582-119107583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147885807	chr1:119107612-119107613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12128952	chr1:119107626-119107627	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545079199	chr1:119107638-119107639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560448751	chr1:119107643-119107644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572490959	chr1:119107655-119107656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61837234	chr1:119107695-119107696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74671862	chr1:119107703-119107704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75150123	chr1:119107708-119107709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372976315	chr1:119107726-119107727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187078001	chr1:119107733-119107734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561176077	chr1:119107854-119107855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6695410	chr1:119107872-119107873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs370663393	chr1:119107924-119107925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549929359	chr1:119107962-119107963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141508171	chr1:119107985-119107986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532794915	chr1:119107994-119107995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547125077	chr1:119108142-119108143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375788000	chr1:119108144-119108145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536387036	chr1:119108151-119108152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548284043	chr1:119108173-119108174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368252758	chr1:119108254-119108255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555350914	chr1:119108305-119108306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143829777	chr1:119108374-119108375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188905348	chr1:119108413-119108414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371419303	chr1:119108425-119108426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577063936	chr1:119108505-119108506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111954180	chr1:119108557-119108558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534911492	chr1:119108561-119108562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151103469	chr1:119108574-119108575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1936068	chr1:119108658-119108659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs542586407	chr1:119108696-119108697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561062293	chr1:119108706-119108707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563074201	chr1:119108720-119108721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576087632	chr1:119108748-119108749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543614025	chr1:119108784-119108785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	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
Glioblastoma multiforme	21080181	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	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
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
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
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119106200-119108400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr1:119106800-119108000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:119106800-119108200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:119106800-119108200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:119106800-119108200	Enhancers	Fetal Muscle Leg	muscle
6	chr1:119106800-119108200	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:119107000-119107600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:119107000-119107800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:119107000-119107800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:119107200-119108000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:119107200-119108400	Enhancers	Colon Smooth Muscle	Colon
12	chr1:119108400-119109400	Weak transcription	Placenta Amnion	Placenta Amnion

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