Variant report

Variant	esv2760903
Chromosome Location	chr4:15458598-15464619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15240046..15241001-chr4:15458873..15460011,5	MCF-7	breast:
2	chr4:15233081..15233861-chr4:15459159..15460153,3	MCF-7	breast:
3	chr4:15233266..15233775-chr4:15458638..15459594,3	MCF-7	breast:

Extended variants
information (count: 210 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4140932	chr4:15458598-15458599	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527762053	chr4:15458625-15458626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189624198	chr4:15458649-15458650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16891995	chr4:15458657-15458658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530046248	chr4:15458677-15458678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367735339	chr4:15458679-15458680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180848732	chr4:15458760-15458761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570277477	chr4:15458769-15458770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539192213	chr4:15458795-15458796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558870907	chr4:15458831-15458832	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566293639	chr4:15458852-15458853	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534696007	chr4:15458853-15458854	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs554712860	chr4:15458957-15458958	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs370889308	chr4:15458969-15458970	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200938001	chr4:15458970-15458971	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114471809	chr4:15458977-15458978	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115023367	chr4:15458984-15458985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs185135355	chr4:15459001-15459002	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs543994889	chr4:15459003-15459004	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150220253	chr4:15459073-15459074	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368403773	chr4:15459115-15459116	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs559279134	chr4:15459120-15459121	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190288483	chr4:15459142-15459143	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs62289303	chr4:15459147-15459148	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561050485	chr4:15459155-15459156	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115573057	chr4:15459162-15459163	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs182560254	chr4:15459248-15459249	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs563738587	chr4:15459313-15459314	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186191353	chr4:15459350-15459351	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs138720536	chr4:15459396-15459397	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs191506347	chr4:15459442-15459443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11722737	chr4:15459443-15459444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs149361839	chr4:15459450-15459451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551316837	chr4:15459525-15459526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184202392	chr4:15459526-15459527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537177459	chr4:15459534-15459535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147006478	chr4:15459540-15459541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576817959	chr4:15459614-15459615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539343665	chr4:15459625-15459626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553243336	chr4:15459636-15459637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567145854	chr4:15459638-15459639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572654840	chr4:15459644-15459645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541645552	chr4:15459681-15459682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561015578	chr4:15459719-15459720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566760706	chr4:15459741-15459742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574580419	chr4:15459750-15459751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188753560	chr4:15459767-15459768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371260107	chr4:15459772-15459773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563531498	chr4:15459781-15459782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs57005363	chr4:15459809-15459810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15438400-15458800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:15438800-15471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:15448400-15458800	Weak transcription	Primary T cells from cord blood	blood
4	chr4:15453000-15458800	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:15453400-15458600	Weak transcription	Left Ventricle	heart
6	chr4:15453600-15458600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:15453600-15459000	Weak transcription	Brain Anterior Caudate	brain
8	chr4:15453600-15459000	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:15453800-15458600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:15454000-15458800	Weak transcription	Fetal Lung	lung
11	chr4:15454200-15458600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:15454200-15458600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:15454200-15458800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:15454200-15458800	Weak transcription	Stomach Mucosa	stomach
15	chr4:15454200-15459000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:15454400-15458800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:15454400-15458800	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:15454600-15458600	Weak transcription	Fetal Stomach	stomach
19	chr4:15454800-15459000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:15454800-15459000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:15456200-15459600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:15456200-15459800	Enhancers	NHLF	lung
23	chr4:15456400-15458800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr4:15456400-15459800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:15457200-15458600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:15457200-15458600	Weak transcription	Right Atrium	heart
27	chr4:15457200-15458800	Weak transcription	HSMM	muscle
28	chr4:15457400-15458800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:15457400-15459000	Weak transcription	Brain Substantia Nigra	brain
30	chr4:15457600-15458600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:15457600-15458600	Weak transcription	Placenta	Placenta
32	chr4:15457600-15458800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:15457600-15458800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:15457600-15458800	Weak transcription	Liver	Liver
35	chr4:15457600-15458800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr4:15457600-15458800	Weak transcription	NHDF-Ad	bronchial
37	chr4:15457600-15458800	Weak transcription	Osteobl	bone
38	chr4:15457600-15459000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:15457800-15458800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:15457800-15458800	Weak transcription	Adipose Nuclei	Adipose
41	chr4:15458000-15459600	Enhancers	Aorta	Aorta
42	chr4:15458200-15459600	Enhancers	Primary hematopoietic stem cells	blood
43	chr4:15458200-15459800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:15458200-15459800	Enhancers	Ovary	ovary
45	chr4:15458400-15458800	Enhancers	Primary B cells from cord blood	blood
46	chr4:15458400-15459000	Enhancers	Stomach Smooth Muscle	stomach
47	chr4:15458400-15459200	Enhancers	Spleen	Spleen
48	chr4:15458400-15459400	Enhancers	Fetal Brain Female	brain
49	chr4:15458400-15459600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:15458400-15459800	Enhancers	Primary B cells from peripheral blood	blood

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