Variant report

Variant	esv2762547
Chromosome Location	chr5:119427979-119487383
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	chr5:119457407..119460056-chr5:119489321..119491015,2	K562	blood:
2	chr5:119425445..119427707-chr5:119431108..119433766,2	MCF-7	breast:

Extended variants
information (count: 1873 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1873 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559135187	chr5:119428012-119428013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181601723	chr5:119428017-119428018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531811319	chr5:119428095-119428096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185971980	chr5:119428096-119428097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564932524	chr5:119428107-119428108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190298729	chr5:119428132-119428133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566127044	chr5:119428159-119428160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75577946	chr5:119428171-119428172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567236383	chr5:119428176-119428177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183397028	chr5:119428272-119428273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549924173	chr5:119428294-119428295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113602842	chr5:119428328-119428329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569782854	chr5:119428337-119428338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538718808	chr5:119428349-119428350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558416694	chr5:119428370-119428371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113022950	chr5:119428424-119428425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187976410	chr5:119428444-119428445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554471341	chr5:119428447-119428448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377351850	chr5:119428449-119428450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574408020	chr5:119428460-119428461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534729404	chr5:119428510-119428511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114200192	chr5:119428565-119428566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191195837	chr5:119428574-119428575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144539509	chr5:119428582-119428583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111676653	chr5:119428621-119428622	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs561913414	chr5:119428624-119428625	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs527644838	chr5:119428654-119428655	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs547405820	chr5:119428743-119428744	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148446059	chr5:119428758-119428759	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs374705372	chr5:119428775-119428776	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs36035385	chr5:119428792-119428793	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544634400	chr5:119428795-119428796	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs549846179	chr5:119428809-119428810	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146016046	chr5:119428853-119428854	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532212183	chr5:119428873-119428874	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552264589	chr5:119428878-119428879	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60547170	chr5:119428895-119428896	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534575010	chr5:119428896-119428897	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35090167	chr5:119428907-119428908	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117966070	chr5:119428910-119428911	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568000448	chr5:119428925-119428926	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536944009	chr5:119428930-119428931	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182401340	chr5:119428951-119428952	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576538069	chr5:119428955-119428956	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187771019	chr5:119429025-119429026	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs375347331	chr5:119429048-119429049	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs78721232	chr5:119429052-119429053	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs572185499	chr5:119429066-119429067	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs541161154	chr5:119429101-119429102	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs560935613	chr5:119429109-119429110	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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	22037309	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119423200-119428800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:119424400-119428600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:119424600-119428600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr5:119424800-119428600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:119425000-119428600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:119425000-119428800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:119425200-119428800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:119425200-119432000	Weak transcription	Dnd41	blood
9	chr5:119426800-119431000	Weak transcription	Fetal Heart	heart
10	chr5:119428600-119429000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:119428600-119429400	Enhancers	Primary hematopoietic stem cells	blood
12	chr5:119428600-119429400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:119428600-119429600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:119428800-119429000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:119428800-119429000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr5:119428800-119429200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:119429000-119429200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:119429000-119429400	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr5:119429200-119429400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:119429400-119430000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:119429400-119431600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:119429400-119431800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr5:119429400-119432200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:119429600-119431600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:119430000-119439200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:119430800-119431200	Enhancers	Fetal Muscle Leg	muscle
27	chr5:119431000-119431200	Enhancers	Psoas Muscle	Psoas
28	chr5:119431000-119431400	Enhancers	Fetal Heart	heart
29	chr5:119431000-119431400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr5:119431000-119432200	Enhancers	HSMM	muscle
31	chr5:119431600-119432000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:119431600-119432000	Enhancers	A549	lung
33	chr5:119431600-119432000	Enhancers	NHDF-Ad	bronchial
34	chr5:119431600-119432200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:119431600-119432800	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr5:119431600-119433200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:119431600-119433400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:119431800-119433000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr5:119432000-119432200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:119432000-119432200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr5:119432000-119432200	Flanking Active TSS	NHDF-Ad	bronchial
42	chr5:119432000-119432400	Active TSS	Right Atrium	heart
43	chr5:119432000-119432400	Active TSS	A549	lung
44	chr5:119432000-119433200	Enhancers	Dnd41	blood
45	chr5:119432200-119432400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr5:119432200-119432400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:119432200-119432400	Enhancers	Liver	Liver
48	chr5:119432200-119432400	Flanking Active TSS	HSMM	muscle
49	chr5:119432200-119432600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:119432200-119432600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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