Variant report

Variant	esv1819224
Chromosome Location	chr5:105143968-105207575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:105204183..105207083-chr5:105211855..105213539,2	MCF-7	breast:
2	chr5:105110281..105111988-chr5:105184711..105186655,2	K562	blood:
3	chr5:105201689..105204233-chr5:105212848..105215764,2	K562	blood:
4	chr5:105206220..105208070-chr5:105267009..105269408,2	K562	blood:
5	chr5:105176397..105179670-chr5:105180038..105183238,3	K562	blood:
6	chr5:105204746..105207653-chr5:105212671..105215343,2	K562	blood:
7	chr5:105176397..105179670-chr5:105180038..105183238,3	K562	blood:

No data

Extended variants
information (count: 1002 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1002 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12523525	chr5:105143968-105143969	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545740293	chr5:105143975-105143976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565406726	chr5:105143978-105143979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80038654	chr5:105143999-105144000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1482901	chr5:105146252-105146253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73206935	chr5:105146297-105146298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189389497	chr5:105146299-105146300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192431500	chr5:105146340-105146341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538796473	chr5:105146445-105146446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371505311	chr5:105146456-105146457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570295144	chr5:105146457-105146458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34819763	chr5:105146458-105146459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397883773	chr5:105146470-105146471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376827579	chr5:105146483-105146484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568966477	chr5:105146485-105146486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537520434	chr5:105146514-105146515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563654479	chr5:105146528-105146529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140971551	chr5:105146530-105146531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567708973	chr5:105146531-105146532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534224965	chr5:105146557-105146558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529581804	chr5:105146588-105146589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs67864818	chr5:105146602-105146603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3074115	chr5:105146603-105146604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552267451	chr5:105146629-105146630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570872996	chr5:105146655-105146656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577383334	chr5:105146695-105146696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72777169	chr5:105146731-105146732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189424222	chr5:105146751-105146752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576529949	chr5:105146768-105146769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542336064	chr5:105146770-105146771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181223216	chr5:105146774-105146775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375661720	chr5:105146779-105146780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528569245	chr5:105146781-105146782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547295087	chr5:105147818-105147819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570345482	chr5:105147832-105147833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540136903	chr5:105147836-105147837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113968149	chr5:105147837-105147838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187327981	chr5:105147893-105147894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536020441	chr5:105147908-105147909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192399506	chr5:105147921-105147922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182441077	chr5:105147922-105147923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535117932	chr5:105147929-105147930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186124607	chr5:105147946-105147947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577917536	chr5:105147955-105147956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34830294	chr5:105147991-105147992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397793829	chr5:105147993-105147994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200793320	chr5:105147994-105147995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546081628	chr5:105148061-105148062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570373713	chr5:105148072-105148073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372406301	chr5:105148108-105148109	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105143600-105144000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr5:105146200-105146800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:105147800-105148200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:105147800-105148600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:105148200-105152800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:105148600-105153000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:105152600-105153200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:105152600-105153800	Enhancers	NHDF-Ad	bronchial
9	chr5:105152600-105154000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:105152800-105153000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:105152800-105153800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:105153000-105153200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:105153000-105154000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:105153200-105153800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:105153800-105154000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:105162000-105162200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:105162000-105162400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:105162000-105162400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:105162000-105162600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:105162000-105162600	Enhancers	Adipose Nuclei	Adipose
21	chr5:105162200-105162600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:105162200-105162600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:105164000-105172200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:105167800-105168600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr5:105167800-105168600	Enhancers	Ovary	ovary
26	chr5:105171800-105172800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:105171800-105173000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:105171800-105173000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:105172000-105172600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:105172200-105172600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:105172400-105172800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:105172400-105172800	Enhancers	Fetal Lung	lung
33	chr5:105172400-105173000	Enhancers	Fetal Brain Male	brain
34	chr5:105172600-105173600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:105173600-105173800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:105185000-105185600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:105185000-105186200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:105185400-105186000	Enhancers	NHDF-Ad	bronchial
39	chr5:105185400-105186200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:105193600-105196000	Weak transcription	Right Atrium	heart
41	chr5:105194600-105195000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr5:105197800-105199000	Weak transcription	Aorta	Aorta
43	chr5:105199000-105199400	ZNF genes & repeats	Aorta	Aorta
44	chr5:105199400-105200000	Weak transcription	Aorta	Aorta
45	chr5:105203800-105205000	Enhancers	Fetal Muscle Trunk	muscle
46	chr5:105203800-105205000	Enhancers	Placenta	Placenta
47	chr5:105204000-105205200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:105204200-105204600	Enhancers	Adipose Nuclei	Adipose
49	chr5:105204200-105204600	Enhancers	Pancreas	Pancrea
50	chr5:105204600-105204800	Flanking Active TSS	Adipose Nuclei	Adipose

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