Variant report

Variant	esv1807514
Chromosome Location	chr5:151242208-151252867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:151150311..151152701-chr5:151245242..151247045,2	K562	blood:
2	chr5:151237615..151239787-chr5:151247109..151248948,2	K562	blood:
3	chr5:151146976..151149918-chr5:151242837..151245370,2	K562	blood:
4	chr5:151238710..151240284-chr5:151243500..151245293,2	K562	blood:

Variant related genes	Relation type
ENSG00000145907	chromatin interactions
ENSG00000177556	chromatin interactions

Extended variants
information (count: 337 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7707162	chr5:151242208-151242209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs149913516	chr5:151242225-151242226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574164445	chr5:151242235-151242236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372157825	chr5:151242302-151242303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183929901	chr5:151242314-151242315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7706897	chr5:151242315-151242316	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7707359	chr5:151242339-151242340	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs188606895	chr5:151242343-151242344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144995588	chr5:151242359-151242360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575879568	chr5:151242395-151242396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73285957	chr5:151242430-151242431	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543190939	chr5:151242479-151242480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561188163	chr5:151242486-151242487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181358321	chr5:151242595-151242596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185055206	chr5:151242633-151242634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564499364	chr5:151242672-151242673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532148699	chr5:151242687-151242688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550572039	chr5:151242691-151242692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569111501	chr5:151242725-151242726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529978770	chr5:151242750-151242751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190301181	chr5:151242770-151242771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569996254	chr5:151242783-151242784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566718016	chr5:151242846-151242847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535071184	chr5:151242879-151242880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367949890	chr5:151242915-151242916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530554699	chr5:151242948-151242949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143160409	chr5:151242969-151242970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537385022	chr5:151242985-151242986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147852884	chr5:151242995-151242996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539001809	chr5:151243023-151243024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557114485	chr5:151243056-151243057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181944498	chr5:151243093-151243094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543000329	chr5:151243111-151243112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554698893	chr5:151243123-151243124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573109461	chr5:151243171-151243172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374977161	chr5:151243185-151243186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539904697	chr5:151243241-151243242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187378025	chr5:151243244-151243245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532133341	chr5:151243292-151243293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189484218	chr5:151243346-151243347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367631007	chr5:151243354-151243355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555510071	chr5:151243375-151243376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180787259	chr5:151243381-151243382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552917310	chr5:151243405-151243406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548506087	chr5:151243419-151243420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142325062	chr5:151243431-151243432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146412027	chr5:151243450-151243451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552430251	chr5:151243452-151243453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558155448	chr5:151243499-151243500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375162064	chr5:151243526-151243527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151231200-151242800	Weak transcription	Aorta	Aorta
2	chr5:151235200-151264200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:151242200-151242600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:151242200-151243000	Enhancers	GM12878-XiMat	blood
5	chr5:151242800-151243000	Enhancers	Aorta	Aorta
6	chr5:151243000-151243400	Weak transcription	Aorta	Aorta
7	chr5:151243400-151245000	Enhancers	Aorta	Aorta
8	chr5:151243800-151244400	Enhancers	Fetal Lung	lung
9	chr5:151247200-151247600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:151247800-151248600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:151248000-151248800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:151248200-151248600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr5:151248200-151248600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr5:151248200-151248800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:151249800-151250800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:151249800-151250800	Enhancers	HSMM	muscle
17	chr5:151249800-151251000	Enhancers	HSMMtube	muscle
18	chr5:151249800-151251200	Enhancers	NHDF-Ad	bronchial
19	chr5:151250000-151250400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:151250000-151250800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:151250000-151250800	Enhancers	NH-A	brain
22	chr5:151250000-151250800	Enhancers	Osteobl	bone
23	chr5:151250000-151251000	Enhancers	HMEC	breast
24	chr5:151250000-151251800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:151250000-151252200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:151250200-151250600	Enhancers	NHLF	lung
27	chr5:151250200-151250800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:151250200-151250800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:151250200-151250800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:151250200-151250800	Enhancers	NHEK	skin
31	chr5:151250400-151250800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:151250400-151250800	Enhancers	A549	lung
33	chr5:151250800-151251600	Weak transcription	HSMM	muscle
34	chr5:151251600-151251800	Enhancers	HSMM	muscle

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