Variant report

Variant	esv20477
Chromosome Location	chr4:15626950-15627587
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	chr4:15626638..15628672-chr4:15655533..15657552,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118564	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549078961	chr4:15626964-15626965	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs568886422	chr4:15627019-15627020	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531603740	chr4:15627030-15627031	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150604742	chr4:15627047-15627048	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140020160	chr4:15627076-15627077	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113018419	chr4:15627081-15627082	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143532809	chr4:15627093-15627094	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs199810959	chr4:15627127-15627128	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146749919	chr4:15627183-15627184	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200770772	chr4:15627198-15627199	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139340203	chr4:15627199-15627200	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542485336	chr4:15627232-15627233	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551748603	chr4:15627246-15627247	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571950137	chr4:15627273-15627274	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs149921734	chr4:15627285-15627286	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534128048	chr4:15627342-15627343	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551818950	chr4:15627375-15627376	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144957766	chr4:15627380-15627381	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190168849	chr4:15627395-15627396	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs545478121	chr4:15627422-15627423	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536319399	chr4:15627434-15627435	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77675463	chr4:15627435-15627436	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200771319	chr4:15627436-15627437	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576066623	chr4:15627441-15627442	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149500692	chr4:15627462-15627463	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368780619	chr4:15627476-15627477	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558570736	chr4:15627480-15627481	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372190170	chr4:15627483-15627484	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143031139	chr4:15627489-15627490	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs13117632	chr4:15627514-15627515	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs13142476	chr4:15627516-15627517	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs151153192	chr4:15627539-15627540	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531140858	chr4:15627543-15627544	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376132486	chr4:15627545-15627546	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs144046392	chr4:15627568-15627569	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	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:158 , 50 per page) page: 1 2 3 4

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	chr4:15606000-15633800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:15613400-15635000	Weak transcription	HSMMtube	muscle
8	chr4:15617800-15627400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:15618600-15627000	Weak transcription	Right Ventricle	heart
10	chr4:15618600-15651000	Weak transcription	Spleen	Spleen
11	chr4:15621000-15632600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:15621600-15627000	Weak transcription	Brain Angular Gyrus	brain
13	chr4:15621800-15627000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:15621800-15627000	Weak transcription	Esophagus	oesophagus
15	chr4:15621800-15627000	Weak transcription	Psoas Muscle	Psoas
16	chr4:15622200-15655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:15622400-15638000	Weak transcription	HepG2	liver
18	chr4:15622400-15639600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:15622600-15627000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:15622600-15629200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:15622600-15645800	Weak transcription	Aorta	Aorta
22	chr4:15622800-15635200	Weak transcription	Fetal Stomach	stomach
23	chr4:15623200-15627000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:15623400-15638000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:15623600-15627000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr4:15623800-15627000	Weak transcription	Ovary	ovary
27	chr4:15623800-15627000	Weak transcription	Thymus	Thymus
28	chr4:15623800-15627800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr4:15623800-15633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:15623800-15635200	Weak transcription	Fetal Intestine Small	intestine
31	chr4:15623800-15635400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:15624200-15636000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:15624400-15627600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
34	chr4:15624400-15629600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:15624400-15629800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:15624600-15630200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:15624800-15632800	Strong transcription	Dnd41	blood
38	chr4:15625000-15627000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:15625200-15627600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:15625200-15632600	Strong transcription	HSMM	muscle
41	chr4:15625200-15640000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:15625200-15644800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr4:15625400-15627600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:15625400-15627800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:15625400-15632400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:15625400-15643200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:15625600-15627600	Strong transcription	A549	lung
48	chr4:15625600-15628000	Strong transcription	HUVEC	blood vessel
49	chr4:15625600-15629600	Strong transcription	GM12878-XiMat	blood
50	chr4:15625600-15629800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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