Variant report

Variant	esv1810087
Chromosome Location	chr4:26956005-26957489
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550810794	chr4:26956043-26956044	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560927819	chr4:26956050-26956051	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188342812	chr4:26956051-26956052	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546466796	chr4:26956057-26956058	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs566262302	chr4:26956100-26956101	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs541380962	chr4:26956189-26956190	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs57357798	chr4:26956190-26956191	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs538322450	chr4:26956197-26956198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs551774329	chr4:26956223-26956224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560901779	chr4:26956281-26956282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535416066	chr4:26956283-26956284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530477382	chr4:26956301-26956302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568476484	chr4:26956318-26956319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538154679	chr4:26956353-26956354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529634496	chr4:26956379-26956380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143832587	chr4:26956429-26956430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369089182	chr4:26956444-26956445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56001106	chr4:26956486-26956487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs549514518	chr4:26956498-26956499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554052202	chr4:26956545-26956546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577436616	chr4:26956549-26956550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546286383	chr4:26956584-26956585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147233397	chr4:26956621-26956622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191277267	chr4:26956682-26956683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10002654	chr4:26956764-26956765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs565759438	chr4:26956780-26956781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561274321	chr4:26956878-26956879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62302533	chr4:26956931-26956932	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs567678701	chr4:26956962-26956963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183911589	chr4:26956987-26956988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532089131	chr4:26956997-26956998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73116683	chr4:26956998-26956999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113987378	chr4:26957148-26957149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2309497	chr4:26957158-26957159	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547863283	chr4:26957228-26957229	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs187817896	chr4:26957412-26957413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142441371	chr4:26957460-26957461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192709875	chr4:26957462-26957463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577472825	chr4:26957476-26957477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539942921	chr4:26957485-26957486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26911600-26965800	Weak transcription	HMEC	breast
2	chr4:26923200-26965800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:26923200-26977200	Weak transcription	Thymus	Thymus
4	chr4:26923400-26960600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:26938600-26969000	Weak transcription	Gastric	stomach
6	chr4:26938800-26965600	Weak transcription	NHLF	lung
7	chr4:26939200-26969000	Weak transcription	Pancreas	Pancrea
8	chr4:26942000-26961000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr4:26944400-26965600	Weak transcription	Brain Anterior Caudate	brain
10	chr4:26945200-26956800	Weak transcription	Brain Angular Gyrus	brain
11	chr4:26949200-26965600	Weak transcription	NH-A	brain
12	chr4:26949400-26963400	Weak transcription	Lung	lung
13	chr4:26950000-26980200	Weak transcription	Spleen	Spleen
14	chr4:26950200-26979400	Weak transcription	Ovary	ovary
15	chr4:26950400-26959600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr4:26951800-26960200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:26952400-26958800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:26952400-26959200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:26952600-26965600	Weak transcription	Psoas Muscle	Psoas
20	chr4:26952800-26956400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr4:26952800-26963400	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:26953200-26961400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:26954000-26958800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr4:26954600-26956400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:26954800-26956600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr4:26955200-26956400	Enhancers	Primary B cells from cord blood	blood
27	chr4:26955400-26956200	Flanking Active TSS	GM12878-XiMat	blood
28	chr4:26955400-26959800	Weak transcription	HSMM	muscle
29	chr4:26955400-26962600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:26955400-26963600	Weak transcription	HSMMtube	muscle
31	chr4:26955600-26956200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:26955600-26957000	Weak transcription	Small Intestine	intestine
33	chr4:26955600-26960600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr4:26955600-26960600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:26955600-26960600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:26955600-26963000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:26955600-26965600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:26955600-26965600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:26955600-26965600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:26955600-26965600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:26955600-26965600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:26955600-26965600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr4:26955600-26966400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr4:26955800-26956200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:26955800-26957400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr4:26955800-26959200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:26955800-26959200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr4:26955800-26959800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:26956000-26957000	Weak transcription	Brain Hippocampus Middle	brain
50	chr4:26956000-26958000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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