Variant report

Variant	esv2753012
Chromosome Location	chr5:100695487-100756873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:99983058..99983589-chr5:100699944..100700904,2	MCF-7	breast:
2	chr11:45378931..45379643-chr5:100700753..100701279,2	MCF-7	breast:
3	chr5:99814495..99815041-chr5:100726099..100726630,2	MCF-7	breast:
4	chr5:99814517..99815454-chr5:100725734..100726727,3	MCF-7	breast:
5	chr5:100726516..100727169-chr5:101014073..101014596,2	MCF-7	breast:
6	chr5:100726013..100726646-chr5:100925875..100926725,2	MCF-7	breast:

Extended variants
information (count: 680 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1459591	chr5:100695487-100695488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114498135	chr5:100695491-100695492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183928877	chr5:100695499-100695500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77031340	chr5:100695534-100695535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187805093	chr5:100695569-100695570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555515492	chr5:100695586-100695587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573797447	chr5:100695640-100695641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534905764	chr5:100695646-100695647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115983466	chr5:100695655-100695656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577171334	chr5:100695674-100695675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs5869944	chr5:100695677-100695678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199872045	chr5:100695678-100695679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563009162	chr5:100695744-100695745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575284604	chr5:100695748-100695749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542386423	chr5:100695770-100695771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191900868	chr5:100695794-100695795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562305327	chr5:100695816-100695817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116619605	chr5:100695818-100695819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548071088	chr5:100695840-100695841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142809740	chr5:100695850-100695851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149620460	chr5:100695857-100695858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142373728	chr5:100695902-100695903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533339708	chr5:100695926-100695927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1352747	chr5:100695972-100695973	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs374121308	chr5:100695993-100695994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1352746	chr5:100695994-100695995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549249263	chr5:100696031-100696032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567413682	chr5:100696081-100696082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147421885	chr5:100696106-100696107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564666665	chr5:100696229-100696230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116376726	chr5:100696239-100696240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577531947	chr5:100696241-100696242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1352745	chr5:100696277-100696278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs556517732	chr5:100696284-100696285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553106035	chr5:100696324-100696325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138217730	chr5:100696342-100696343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184511356	chr5:100696363-100696364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1380399	chr5:100696364-100696365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76883818	chr5:100696452-100696453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541670217	chr5:100696457-100696458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150520586	chr5:100696491-100696492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72782877	chr5:100696503-100696504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1380398	chr5:100696527-100696528	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113581703	chr5:100696560-100696561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563689570	chr5:100696600-100696601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs346857	chr5:100696640-100696641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549409434	chr5:100696641-100696642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149680631	chr5:100696657-100696658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567744983	chr5:100696683-100696684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146216414	chr5:100696699-100696700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100695000-100696000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:100695400-100696000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:100696000-100699000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:100696000-100699400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:100696600-100696800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:100697200-100697600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:100697600-100699800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:100699000-100700000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:100699400-100700800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:100699800-100700000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:100700000-100700200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:100700000-100700400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:100700000-100700400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:100700000-100700600	Enhancers	Adipose Nuclei	Adipose
15	chr5:100700200-100700600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:100700200-100700600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:100700200-100700600	Enhancers	NHDF-Ad	bronchial
18	chr5:100700400-100700800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:100700400-100702200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:100700600-100705800	Weak transcription	Adipose Nuclei	Adipose
21	chr5:100700600-100705800	Weak transcription	NHDF-Ad	bronchial
22	chr5:100700800-100701800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:100700800-100705400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:100701800-100703200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:100702200-100702600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:100702600-100702800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:100702800-100705400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:100703200-100705600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:100705400-100705600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:100705400-100705600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:100705600-100705800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:100705600-100705800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr5:100705600-100706000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:100705600-100706200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:100705600-100706200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:100705800-100706000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:100705800-100706000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr5:100705800-100706000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr5:100705800-100706000	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr5:100705800-100706200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr5:100705800-100706200	Active TSS	Aorta	Aorta
42	chr5:100705800-100706200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr5:100705800-100706200	Active TSS	Right Atrium	heart
44	chr5:100705800-100706200	Active TSS	NHDF-Ad	bronchial
45	chr5:100705800-100706200	Active TSS	Osteobl	bone
46	chr5:100705800-100706400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:100705800-100706400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:100706000-100706200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:100706000-100706200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr5:100706000-100706200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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