Variant report

Variant	esv3392804
Chromosome Location	chr5:118398003-118400001
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118397443..118401188-chr5:118403593..118406456,7	K562	blood:
2	chr5:118396867..118401379-chr5:118402129..118406971,7	K562	blood:
3	chr5:118398187..118399775-chr5:118406820..118408507,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172869	chromatin interactions
ENSG00000249494	chromatin interactions
ENSG00000239011	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191381527	chr5:118398031-118398032	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs117041034	chr5:118398032-118398033	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs139923524	chr5:118398068-118398069	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs182107836	chr5:118398069-118398070	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs374064395	chr5:118398082-118398083	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs186887477	chr5:118398092-118398093	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs578110528	chr5:118398108-118398109	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs540435300	chr5:118398113-118398114	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs560212373	chr5:118398117-118398118	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs573606036	chr5:118398123-118398124	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs113593220	chr5:118398138-118398139	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs113981453	chr5:118398143-118398144	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs372930445	chr5:118398148-118398149	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs577627575	chr5:118398152-118398153	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs185701778	chr5:118398158-118398159	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs539325433	chr5:118398164-118398165	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs376755592	chr5:118398165-118398166	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs546402962	chr5:118398168-118398169	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs564999057	chr5:118398197-118398198	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs377659615	chr5:118398209-118398210	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs190155313	chr5:118398213-118398214	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs556826247	chr5:118398253-118398254	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs547229602	chr5:118398262-118398263	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs566969062	chr5:118398271-118398272	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs192997029	chr5:118398280-118398281	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs1979093	chr5:118398288-118398289	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs191102830	chr5:118398302-118398303	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs538179582	chr5:118398318-118398319	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs148909664	chr5:118398319-118398320	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs571817907	chr5:118398344-118398345	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs532448861	chr5:118398374-118398375	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs143435891	chr5:118398400-118398401	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs538764258	chr5:118398444-118398445	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs184852339	chr5:118398519-118398520	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs115567939	chr5:118398603-118398604	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs369773364	chr5:118398704-118398705	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs550353631	chr5:118398712-118398713	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs56070732	chr5:118398727-118398728	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs2377148	chr5:118398728-118398729	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs181208707	chr5:118398730-118398731	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs576123798	chr5:118398740-118398741	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs544994578	chr5:118398743-118398744	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs565188079	chr5:118398752-118398753	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs527551806	chr5:118398753-118398754	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs184964573	chr5:118398787-118398788	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs34474665	chr5:118398788-118398789	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs560925176	chr5:118398789-118398790	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs374298130	chr5:118398796-118398797	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs376129063	chr5:118398799-118398800	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs188213501	chr5:118398801-118398802	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118386000-118399200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:118386600-118399200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:118386600-118399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:118386600-118399400	Weak transcription	HSMMtube	muscle
5	chr5:118396000-118399000	Weak transcription	GM12878-XiMat	blood
6	chr5:118396000-118399200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:118396000-118405600	Weak transcription	Primary B cells from cord blood	blood
8	chr5:118396400-118399200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:118396600-118399200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:118397000-118399200	Weak transcription	K562	blood
11	chr5:118398400-118398600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:118399000-118399200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:118399000-118399200	Enhancers	GM12878-XiMat	blood
14	chr5:118399000-118399200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr5:118399000-118400200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:118399000-118400200	Enhancers	Duodenum Mucosa	Duodenum
17	chr5:118399000-118400200	Enhancers	HepG2	liver
18	chr5:118399200-118399400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:118399200-118399400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:118399200-118399600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:118399200-118399600	Enhancers	Primary hematopoietic stem cells	blood
22	chr5:118399200-118399600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr5:118399200-118399600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:118399200-118399600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:118399200-118399600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:118399200-118399600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:118399200-118399600	Enhancers	Thymus	Thymus
28	chr5:118399200-118399600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr5:118399200-118399800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:118399200-118399800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:118399200-118399800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:118399200-118399800	Enhancers	Fetal Intestine Small	intestine
33	chr5:118399200-118399800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr5:118399200-118399800	Flanking Active TSS	GM12878-XiMat	blood
35	chr5:118399200-118399800	Enhancers	Hela-S3	cervix
36	chr5:118399200-118400000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:118399200-118400000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:118399200-118400000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:118399200-118400000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:118399200-118400000	Enhancers	Stomach Mucosa	stomach
41	chr5:118399200-118400200	Enhancers	Primary B cells from peripheral blood	blood
42	chr5:118399200-118400200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr5:118399200-118400200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:118399200-118400200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:118399200-118400200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr5:118399200-118400200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr5:118399200-118400200	Enhancers	K562	blood
48	chr5:118399200-118400200	Enhancers	Osteobl	bone
49	chr5:118399400-118399600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:118399400-118399800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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