Variant report

Variant	esv3358965
Chromosome Location	chr5:148198584-148201132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:148199938..148200717-chr5:148336805..148337485,2	MCF-7	breast:
2	chr5:148186231..148189148-chr5:148197237..148199113,2	K562	blood:
3	chr5:148200300..148200818-chr5:148377879..148378457,2	MCF-7	breast:

Extended variants
information (count: 141 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576326411	chr5:148198584-148198585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs137856870	chr5:148198697-148198698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562219214	chr5:148198728-148198729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181215339	chr5:148198786-148198787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531143816	chr5:148198810-148198811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559359878	chr5:148198827-148198828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537629399	chr5:148198868-148198869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149644326	chr5:148198944-148198945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4705059	chr5:148198999-148199000	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1344785	chr5:148199001-148199002	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4705060	chr5:148199004-148199005	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs549265732	chr5:148199024-148199025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567846830	chr5:148199044-148199045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528115532	chr5:148199047-148199048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60944697	chr5:148199102-148199103	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs10077925	chr5:148199131-148199132	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544659435	chr5:148199189-148199190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537112214	chr5:148199190-148199191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565715628	chr5:148199225-148199226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10078004	chr5:148199242-148199243	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565708029	chr5:148199261-148199262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35283004	chr5:148199267-148199268	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs146630832	chr5:148199382-148199383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112251083	chr5:148199385-148199386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112020928	chr5:148199387-148199388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11281976	chr5:148199389-148199390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78709806	chr5:148199390-148199391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79947758	chr5:148199391-148199392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77914323	chr5:148199392-148199393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs67339154	chr5:148199445-148199446	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569925373	chr5:148199448-148199449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369904379	chr5:148199504-148199505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143479178	chr5:148199505-148199506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373668329	chr5:148199517-148199518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555665229	chr5:148199530-148199531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369377813	chr5:148199532-148199533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111908320	chr5:148199542-148199543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541451824	chr5:148199543-148199544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373415949	chr5:148199544-148199545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374881498	chr5:148199546-148199547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374134170	chr5:148199571-148199572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543464870	chr5:148199573-148199574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576975733	chr5:148199577-148199578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545570276	chr5:148199606-148199607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376967841	chr5:148199607-148199608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35145920	chr5:148199610-148199611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71582316	chr5:148199611-148199612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537251809	chr5:148199613-148199614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10569054	chr5:148199618-148199619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550738056	chr5:148199636-148199637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
Basal cell lymphoma	17053054	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
Charcot-marie-tooth disease	22275255	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:148186400-148205400	Weak transcription	Aorta	Aorta
2	chr5:148189000-148204800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:148189000-148205200	Weak transcription	Psoas Muscle	Psoas
4	chr5:148194600-148205200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:148194600-148205200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:148195000-148198600	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:148195000-148205200	Weak transcription	Brain Substantia Nigra	brain
8	chr5:148195200-148205200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:148195400-148205000	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:148195400-148205200	Weak transcription	Brain Anterior Caudate	brain
11	chr5:148196600-148205200	Weak transcription	Right Atrium	heart
12	chr5:148197000-148198600	Enhancers	Brain Hippocampus Middle	brain
13	chr5:148197400-148204200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:148197400-148204200	Weak transcription	Adipose Nuclei	Adipose
15	chr5:148197600-148204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:148197600-148205400	Weak transcription	Spleen	Spleen
17	chr5:148197800-148198800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:148197800-148200200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:148197800-148203600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:148198000-148199800	Weak transcription	Primary B cells from cord blood	blood
21	chr5:148198000-148203400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:148198200-148198600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:148198200-148198600	Enhancers	Stomach Smooth Muscle	stomach
24	chr5:148198400-148199000	Enhancers	Fetal Heart	heart
25	chr5:148198400-148199400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:148198600-148199200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr5:148198600-148199800	Weak transcription	NHDF-Ad	bronchial
28	chr5:148198600-148205200	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:148198800-148199400	Enhancers	Primary hematopoietic stem cells	blood
30	chr5:148199200-148199400	Enhancers	Primary B cells from peripheral blood	blood
31	chr5:148199400-148201400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr5:148199400-148204400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:148199400-148204600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:148199800-148200000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:148199800-148200400	Enhancers	NHDF-Ad	bronchial
36	chr5:148199800-148202000	Enhancers	Primary B cells from cord blood	blood
37	chr5:148200000-148200200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:148200200-148203200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr5:148200200-148205200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr5:148200400-148204200	Weak transcription	NHDF-Ad	bronchial

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