Variant report

Variant	esv1834575
Chromosome Location	chr5:119380512-119434193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
2	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:
3	chr3:99997776..99998276-chr5:119383981..119384507,2	MCF-7	breast:
4	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:
5	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:
6	chr5:119390926..119393461-chr5:119405366..119407503,2	K562	blood:
7	chr5:119398548..119400773-chr5:119411952..119413721,2	K562	blood:

Extended variants
information (count: 1637 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1637 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146096361	chr5:119381014-119381015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370853064	chr5:119381080-119381081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138944579	chr5:119381128-119381129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191838456	chr5:119381290-119381291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572097552	chr5:119381319-119381320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149233877	chr5:119381441-119381442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112847676	chr5:119381491-119381492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558013555	chr5:119381588-119381589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574114471	chr5:119381678-119381679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563144116	chr5:119381755-119381756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542876720	chr5:119381794-119381795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143446865	chr5:119381856-119381857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183105496	chr5:119381910-119381911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376335589	chr5:119382002-119382003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148006572	chr5:119382011-119382012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545583253	chr5:119382090-119382091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565382108	chr5:119382138-119382139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141703771	chr5:119382149-119382150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547915494	chr5:119382171-119382172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146359661	chr5:119382193-119382194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530480330	chr5:119382207-119382208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578215739	chr5:119382295-119382296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549942416	chr5:119382329-119382330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73792818	chr5:119382361-119382362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569928117	chr5:119382382-119382383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1209530	chr5:119382496-119382497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552287257	chr5:119382545-119382546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187355254	chr5:119382653-119382654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372132317	chr5:119382680-119382681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528119486	chr5:119382729-119382730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548097111	chr5:119382751-119382752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537647285	chr5:119382807-119382808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191813300	chr5:119382839-119382840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574224654	chr5:119382841-119382842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184318211	chr5:119382867-119382868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566344307	chr5:119382913-119382914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62377413	chr5:119383000-119383001	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576666742	chr5:119383010-119383011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545389758	chr5:119383012-119383013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565431455	chr5:119383020-119383021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548753791	chr5:119383049-119383050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570242139	chr5:119383062-119383063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187170628	chr5:119383092-119383093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139720444	chr5:119383115-119383116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541504133	chr5:119383149-119383150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74836823	chr5:119383168-119383169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537139770	chr5:119383180-119383181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548952902	chr5:119383198-119383199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530262350	chr5:119383239-119383240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550138080	chr5:119383263-119383264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119380200-119382600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:119382600-119383200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:119383200-119385000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:119385000-119385200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:119385600-119385800	ZNF genes & repeats	Fetal Brain Male	brain
6	chr5:119385800-119388800	Weak transcription	Fetal Brain Male	brain
7	chr5:119388400-119389800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr5:119388600-119388800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:119388600-119390000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:119388600-119390400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:119388800-119389200	Enhancers	Fetal Brain Male	brain
12	chr5:119388800-119389400	Enhancers	Fetal Heart	heart
13	chr5:119388800-119389600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:119389000-119389200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:119389000-119389400	Enhancers	NHDF-Ad	bronchial
16	chr5:119389000-119389800	Enhancers	HSMMtube	muscle
17	chr5:119389200-119389600	Active TSS	Aorta	Aorta
18	chr5:119389200-119389800	Enhancers	Osteobl	bone
19	chr5:119389200-119390000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:119389400-119389800	Weak transcription	NHDF-Ad	bronchial
21	chr5:119389400-119390000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:119389400-119391400	Weak transcription	Fetal Heart	heart
23	chr5:119389600-119389800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:119389600-119390200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:119389800-119390000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:119389800-119390000	Enhancers	NHDF-Ad	bronchial
27	chr5:119390000-119391400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:119390000-119392200	Weak transcription	NHDF-Ad	bronchial
29	chr5:119390200-119390400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:119390400-119392000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:119391400-119392600	Enhancers	Fetal Heart	heart
32	chr5:119391600-119391800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:119391800-119392000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:119391800-119392000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:119392000-119392600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:119392200-119392600	Enhancers	NHDF-Ad	bronchial
37	chr5:119392600-119398000	Weak transcription	Fetal Heart	heart
38	chr5:119393200-119394400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:119393400-119394200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr5:119393600-119394000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:119397600-119399000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:119397800-119399400	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr5:119398000-119398200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:119398000-119399600	Enhancers	Fetal Heart	heart
45	chr5:119398200-119398400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:119398400-119398600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:119398400-119399000	Enhancers	HMEC	breast
48	chr5:119398600-119398800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:119398800-119399000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:119407600-119408000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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