Variant report

Variant	esv989976
Chromosome Location	chr4:143134988-143137921
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	chr4:143130801..143132443-chr4:143135559..143138476,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563330247	chr4:143135040-143135041	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573530299	chr4:143135050-143135051	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181074011	chr4:143135051-143135052	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184886172	chr4:143135057-143135058	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577812807	chr4:143135146-143135147	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190527374	chr4:143135174-143135175	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181751421	chr4:143135195-143135196	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375284581	chr4:143135219-143135220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547707834	chr4:143135235-143135236	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556923529	chr4:143135259-143135260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145136468	chr4:143135306-143135307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544990551	chr4:143135309-143135310	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186637655	chr4:143135316-143135317	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148300893	chr4:143135347-143135348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570100867	chr4:143135401-143135402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573760965	chr4:143135425-143135426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377193467	chr4:143135440-143135441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191940639	chr4:143135520-143135521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2636682	chr4:143135542-143135543	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs141436413	chr4:143135556-143135557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541049495	chr4:143135562-143135563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150823528	chr4:143135573-143135574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574792939	chr4:143135593-143135594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542097615	chr4:143135605-143135606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563544941	chr4:143135626-143135627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73850823	chr4:143135629-143135630	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs543928708	chr4:143135662-143135663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565210821	chr4:143135702-143135703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532439404	chr4:143135737-143135738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545033982	chr4:143135742-143135743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113568010	chr4:143135744-143135745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35840165	chr4:143135777-143135778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559277934	chr4:143135837-143135838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530375468	chr4:143135858-143135859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548593730	chr4:143135862-143135863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2322545	chr4:143135880-143135881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113025095	chr4:143135890-143135891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570266697	chr4:143135906-143135907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537227503	chr4:143135925-143135926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181039073	chr4:143135932-143135933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570577517	chr4:143135933-143135934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534665165	chr4:143135965-143135966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111791885	chr4:143135980-143135981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185652511	chr4:143135985-143135986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574481070	chr4:143135997-143135998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189674891	chr4:143135998-143135999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376437573	chr4:143136001-143136002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575422218	chr4:143136074-143136075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74616445	chr4:143136097-143136098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563901269	chr4:143136226-143136227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Renal cell carcinoma	20952505	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143072000-143137000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:143095000-143154200	Weak transcription	Left Ventricle	heart
4	chr4:143112600-143137600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:143114600-143150600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:143116800-143141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:143122600-143143600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:143128800-143135000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:143128800-143157200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:143128800-143158600	Weak transcription	NHDF-Ad	bronchial
11	chr4:143129000-143153400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:143129000-143155200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:143129000-143157200	Weak transcription	Dnd41	blood
14	chr4:143129200-143147400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:143129200-143152200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:143129200-143155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:143129200-143157200	Weak transcription	NHEK	skin
18	chr4:143129200-143169600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:143129600-143139000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:143130200-143157200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:143131600-143152200	Weak transcription	HSMM	muscle
22	chr4:143133200-143137200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:143133400-143135800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:143133600-143135400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:143133600-143157200	Weak transcription	HMEC	breast
26	chr4:143133800-143135600	Strong transcription	Primary T cells from cord blood	blood
27	chr4:143133800-143146200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:143134400-143135200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr4:143134400-143135600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr4:143134400-143136400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:143134600-143135000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr4:143134600-143135400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:143134800-143135400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:143134800-143135600	Strong transcription	HSMMtube	muscle
35	chr4:143134800-143139600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:143134800-143144000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:143135000-143135400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:143135000-143150600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr4:143135200-143135800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:143135400-143140800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:143135400-143141400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:143135400-143141400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:143135400-143184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:143135600-143138400	Weak transcription	Primary T cells from cord blood	blood
45	chr4:143135600-143139000	Weak transcription	HSMMtube	muscle
46	chr4:143135600-143143800	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:143135800-143144000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:143135800-143146000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:143136400-143136800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:143136800-143137600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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