Variant report

Variant	esv3464803
Chromosome Location	chr4:15642440-15643201
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	chr4:15642778..15644328-chr4:15756806..15758696,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138828275	chr4:15642444-15642445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370566676	chr4:15642459-15642460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375103156	chr4:15642473-15642474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368298100	chr4:15642483-15642484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368901189	chr4:15642546-15642547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537364243	chr4:15642583-15642584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533839379	chr4:15642590-15642591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557105507	chr4:15642604-15642605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140846602	chr4:15642608-15642609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545452832	chr4:15642617-15642618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552691960	chr4:15642637-15642638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191896759	chr4:15642656-15642657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541839383	chr4:15642659-15642660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372375223	chr4:15642663-15642664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561822043	chr4:15642672-15642673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551390151	chr4:15642694-15642695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553594277	chr4:15642698-15642699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530801741	chr4:15642713-15642714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544518234	chr4:15642717-15642718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564229540	chr4:15642719-15642720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368055661	chr4:15642744-15642745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552699164	chr4:15642802-15642803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559824179	chr4:15642862-15642863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7696122	chr4:15642949-15642950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7696127	chr4:15642953-15642954	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs11723478	chr4:15642958-15642959	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs202234789	chr4:15643001-15643002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116266523	chr4:15643053-15643054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550873638	chr4:15643058-15643059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115383304	chr4:15643063-15643064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371338340	chr4:15643088-15643089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150143975	chr4:15643153-15643154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552774038	chr4:15643158-15643159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572931046	chr4:15643193-15643194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	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
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15568400-15655600	Weak transcription	Gastric	stomach
2	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
3	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
4	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
5	chr4:15605800-15650200	Weak transcription	Stomach Mucosa	stomach
6	chr4:15618600-15651000	Weak transcription	Spleen	Spleen
7	chr4:15622200-15655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:15622600-15645800	Weak transcription	Aorta	Aorta
9	chr4:15625200-15644800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:15625400-15643200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:15625800-15643400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:15625800-15643600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:15625800-15643600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:15625800-15643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:15626400-15646000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:15627400-15645800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:15627400-15650000	Weak transcription	Fetal Heart	heart
18	chr4:15627400-15651200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:15627400-15652400	Weak transcription	Fetal Brain Male	brain
20	chr4:15627600-15645600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:15627600-15646800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:15627600-15650200	Weak transcription	Right Ventricle	heart
23	chr4:15628000-15655600	Weak transcription	Lung	lung
24	chr4:15628200-15645800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:15629600-15650400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:15631200-15644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:15633400-15643800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:15633400-15643800	Strong transcription	Fetal Intestine Large	intestine
29	chr4:15633600-15643400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:15633600-15643600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr4:15633600-15646400	Strong transcription	Fetal Thymus	thymus
32	chr4:15634000-15643600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:15634000-15643800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:15634200-15644400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr4:15634600-15642600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr4:15634600-15642600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr4:15634600-15643400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:15634600-15643600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:15634600-15646600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr4:15634800-15643600	Strong transcription	Fetal Muscle Leg	muscle
41	chr4:15635000-15644000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:15635000-15644400	Strong transcription	Osteobl	bone
43	chr4:15635000-15647000	Strong transcription	HSMM	muscle
44	chr4:15635200-15643800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:15635400-15643800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:15635600-15642800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:15635600-15643200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:15635600-15644400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:15635600-15645000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:15635600-15646400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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