Variant report

Variant	esv3526791
Chromosome Location	chr5:151143264-151143640
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	chr5:151135770..151140060-chr5:151140703..151143772,4	MCF-7	breast:
2	chr5:151141912..151146351-chr5:151146659..151152863,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145907	chromatin interactions
ENSG00000177556	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184159309	chr5:151143272-151143273	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs78199780	chr5:151143275-151143276	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs145325299	chr5:151143279-151143280	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12332543	chr5:151143287-151143288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs575398377	chr5:151143291-151143292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs2964583	chr5:151143313-151143314	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs13165459	chr5:151143401-151143402	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs13165475	chr5:151143414-151143415	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs13165492	chr5:151143458-151143459	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs13165495	chr5:151143460-151143461	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs13165623	chr5:151143481-151143482	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs13165624	chr5:151143483-151143484	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs139314805	chr5:151143487-151143488	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs13165521	chr5:151143548-151143549	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs113832976	chr5:151143567-151143568	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs372138676	chr5:151143584-151143585	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs57902716	chr5:151143585-151143586	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187503736	chr5:151143587-151143588	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs368168214	chr5:151143603-151143604	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200020673	chr5:151143613-151143614	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs10063460	chr5:151143615-151143616	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151138800-151149600	Weak transcription	Aorta	Aorta
2	chr5:151138800-151149800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:151139000-151148800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:151139200-151147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:151139200-151149600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:151139400-151145400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:151139400-151147400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:151139400-151148000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:151139400-151149800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:151139400-151149800	Weak transcription	Right Atrium	heart
11	chr5:151143000-151143400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:151143200-151149800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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