Variant report

Variant	esv2760982
Chromosome Location	chr5:106680849-106702473
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	chr5:106691889..106694112-chr5:106696558..106699437,2	K562	blood:
2	chr5:106691889..106694112-chr5:106696558..106699437,2	K562	blood:

Extended variants
information (count: 887 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:887 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550043927	chr5:106680855-106680856	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143893517	chr5:106680881-106680882	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201196786	chr5:106680895-106680896	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535542354	chr5:106680905-106680906	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184428242	chr5:106680912-106680913	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189068234	chr5:106680971-106680972	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73777830	chr5:106680993-106680994	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533949876	chr5:106681003-106681004	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568055346	chr5:106681068-106681069	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59946695	chr5:106681078-106681079	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553712529	chr5:106681230-106681231	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193022951	chr5:106681259-106681260	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546225806	chr5:106681314-106681315	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72784141	chr5:106681333-106681334	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116167612	chr5:106681370-106681371	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542413477	chr5:106681405-106681406	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538354344	chr5:106681441-106681442	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561780574	chr5:106681454-106681455	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539613350	chr5:106681457-106681458	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556712822	chr5:106681462-106681463	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75857677	chr5:106681469-106681470	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541030743	chr5:106681473-106681474	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59741026	chr5:106681493-106681494	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367874707	chr5:106681568-106681569	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147270651	chr5:106681606-106681607	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs252679	chr5:106681669-106681670	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs151263545	chr5:106681673-106681674	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79161016	chr5:106681686-106681687	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562153562	chr5:106681692-106681693	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529077907	chr5:106681699-106681700	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548734864	chr5:106681738-106681739	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75510623	chr5:106681803-106681804	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573912081	chr5:106681845-106681846	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60896142	chr5:106681846-106681847	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570798527	chr5:106681851-106681852	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139087954	chr5:106681886-106681887	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556608541	chr5:106681937-106681938	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576640936	chr5:106681998-106681999	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368883200	chr5:106681999-106682000	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552836578	chr5:106682020-106682021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs536064008	chr5:106682049-106682050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs555949297	chr5:106682070-106682071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs59952828	chr5:106682091-106682092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs141404933	chr5:106682105-106682106	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs111650417	chr5:106682141-106682142	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs562806339	chr5:106682148-106682149	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs577593735	chr5:106682150-106682151	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs150598047	chr5:106682169-106682170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs59063416	chr5:106682219-106682220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191214681	chr5:106682226-106682227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106675200-106683400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:106680200-106682000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:106680600-106682200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr5:106682000-106695600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:106683400-106683600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:106683400-106683600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:106683600-106693600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:106683600-106697800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:106692400-106693200	Enhancers	Fetal Heart	heart
10	chr5:106693600-106693800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:106693600-106695800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:106694600-106695800	Enhancers	Brain Germinal Matrix	brain
13	chr5:106694800-106695400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr5:106694800-106695600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:106694800-106695800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:106694800-106695800	Enhancers	Fetal Lung	lung
17	chr5:106694800-106695800	Enhancers	HUVEC	blood vessel
18	chr5:106694800-106695800	Enhancers	NHDF-Ad	bronchial
19	chr5:106694800-106696400	Enhancers	Dnd41	blood
20	chr5:106694800-106702400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr5:106695000-106695200	Enhancers	Liver	Liver
22	chr5:106695000-106695600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:106695000-106695600	Enhancers	Adipose Nuclei	Adipose
24	chr5:106695000-106695800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:106695000-106695800	Enhancers	A549	lung
26	chr5:106695000-106696000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr5:106695000-106696000	Enhancers	Fetal Stomach	stomach
28	chr5:106695000-106696200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:106695000-106699000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr5:106695200-106695400	Enhancers	GM12878-XiMat	blood
31	chr5:106695200-106695800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:106695200-106695800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:106695200-106696000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:106695200-106696000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr5:106695200-106696000	Enhancers	Osteobl	bone
36	chr5:106695200-106696200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr5:106695200-106696200	Enhancers	Hela-S3	cervix
38	chr5:106695200-106696400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:106695400-106696600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:106695400-106697400	Weak transcription	Liver	Liver
41	chr5:106695600-106696000	Enhancers	Primary hematopoietic stem cells	blood
42	chr5:106695600-106696200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:106695600-106697800	Weak transcription	Adipose Nuclei	Adipose
44	chr5:106695800-106696000	Enhancers	Primary B cells from cord blood	blood
45	chr5:106695800-106696000	Enhancers	HMEC	breast
46	chr5:106695800-106697400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:106695800-106697400	Weak transcription	A549	lung
48	chr5:106695800-106697600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:106695800-106697600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:106695800-106697600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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