Variant report

Variant	esv1843569
Chromosome Location	chr5:42008999-42128184
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:42122185..42124242-chr5:42127395..42129833,2	MCF-7	breast:
2	chr5:41902588..41905209-chr5:42048616..42051351,2	K562	blood:
3	chr5:42108690..42109427-chr5:42127456..42127968,2	MCF-7	breast:
4	chr5:42057339..42057915-chr5:42889168..42890099,2	K562	blood:
5	chr5:42108690..42109427-chr5:42127456..42127968,2	MCF-7	breast:
6	chr14:39638324..39641258-chr5:42070731..42072523,2	MCF-7	breast:
7	chr5:41856094..41857973-chr5:42056939..42058102,22	K562	blood:
8	chr5:42051426..42053654-chr5:42055217..42057669,2	K562	blood:
9	chr5:42088817..42090333-chr5:42092349..42094008,2	K562	blood:
10	chr5:42097992..42098898-chr8:102360247..102361219,2	MCF-7	breast:
11	chr5:42088817..42090333-chr5:42092349..42094008,2	K562	blood:
12	chr5:42005693..42007368-chr5:42011421..42013927,2	MCF-7	breast:
13	chr5:41924690..41926858-chr5:42021925..42024916,2	K562	blood:
14	chr5:41859110..41859726-chr5:42056831..42057996,3	K562	blood:
15	chr5:42037141..42039596-chr5:42040271..42043042,2	MCF-7	breast:
16	chr5:42127815..42129414-chr5:42135015..42137366,2	K562	blood:
17	chr5:42011659..42014498-chr5:42016092..42018930,3	K562	blood:
18	chr5:42005538..42006287-chr5:42057068..42058036,3	MCF-7	breast:
19	chr5:42010842..42015595-chr5:42016092..42019954,4	K562	blood:
20	chr5:42010842..42015595-chr5:42016092..42019954,4	K562	blood:
21	chr5:42058478..42060752-chr5:42063665..42066653,2	K562	blood:
22	chr5:42122185..42124242-chr5:42127395..42129833,2	MCF-7	breast:
23	chr13:108004543..108005043-chr5:42099053..42099670,2	MCF-7	breast:
24	chr5:42011659..42014498-chr5:42016092..42018930,3	K562	blood:
25	chr5:41843846..41845908-chr5:42054612..42056725,2	K562	blood:
26	chr5:42037141..42039596-chr5:42040271..42043042,2	MCF-7	breast:
27	chr5:41856847..41857569-chr5:42057071..42057972,2	MCF-7	breast:
28	chr5:42051426..42053654-chr5:42055217..42057669,2	K562	blood:
29	chr5:42058478..42060752-chr5:42063665..42066653,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205765	chromatin interactions
ENSG00000182400	chromatin interactions
ENSG00000151876	chromatin interactions

Extended variants
information (count: 2221 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2221 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs156700	chr5:42008999-42009000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371515313	chr5:42009041-42009042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536956657	chr5:42009047-42009048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535748356	chr5:42009129-42009130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113193475	chr5:42009152-42009153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540298785	chr5:42009160-42009161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13181992	chr5:42009239-42009240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565269296	chr5:42009266-42009267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138499152	chr5:42009299-42009300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368199445	chr5:42009308-42009309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115598542	chr5:42009400-42009401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs156842	chr5:42009401-42009402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34278335	chr5:42009443-42009444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3221594	chr5:42009468-42009469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562343355	chr5:42009469-42009470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs634711	chr5:42009477-42009478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67265268	chr5:42009478-42009479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11491444	chr5:42009489-42009490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7356674	chr5:42009495-42009496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397843230	chr5:42009510-42009511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530038754	chr5:42009515-42009516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77380317	chr5:42009521-42009522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547969353	chr5:42009524-42009525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10941560	chr5:42009695-42009696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145071876	chr5:42009696-42009697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377659773	chr5:42009700-42009701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111294338	chr5:42009750-42009751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186005521	chr5:42009751-42009752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574906137	chr5:42009801-42009802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527560035	chr5:42009845-42009846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189246872	chr5:42009875-42009876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369985154	chr5:42009882-42009883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542307367	chr5:42009917-42009918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570393423	chr5:42009941-42009942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537565343	chr5:42009983-42009984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549861674	chr5:42009989-42009990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142615960	chr5:42010010-42010011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146896224	chr5:42010039-42010040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369088931	chr5:42010072-42010073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560643234	chr5:42010132-42010133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572499388	chr5:42010184-42010185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371650977	chr5:42010202-42010203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555179699	chr5:42010278-42010279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546375278	chr5:42010284-42010285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3863160	chr5:42010322-42010323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138952626	chr5:42010329-42010330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547248375	chr5:42010356-42010357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3863161	chr5:42010365-42010366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs3863162	chr5:42010368-42010369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs3863163	chr5:42010376-42010377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42008800-42014400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:42013400-42015600	Enhancers	Liver	Liver
3	chr5:42013600-42014000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr5:42014400-42016400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:42014800-42016600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:42015200-42016400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:42015200-42016600	Enhancers	HSMM	muscle
8	chr5:42015200-42016600	Enhancers	HSMMtube	muscle
9	chr5:42015400-42015800	Enhancers	NHLF	lung
10	chr5:42015400-42016200	Enhancers	NH-A	brain
11	chr5:42015400-42016400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:42015400-42016600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:42015400-42016600	Enhancers	NHDF-Ad	bronchial
14	chr5:42015600-42016000	Bivalent Enhancer	Liver	Liver
15	chr5:42015600-42016400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:42016000-42016200	Enhancers	Liver	Liver
17	chr5:42016200-42022200	Weak transcription	NH-A	brain
18	chr5:42016400-42020400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:42016400-42021000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:42016600-42020600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:42016600-42020600	Weak transcription	HSMMtube	muscle
22	chr5:42016600-42020800	Weak transcription	HSMM	muscle
23	chr5:42016600-42021000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:42020400-42023800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:42020600-42022200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:42020600-42022400	Enhancers	HSMMtube	muscle
27	chr5:42020800-42021200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:42020800-42021200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:42020800-42021400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:42020800-42021400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:42020800-42023200	Enhancers	HSMM	muscle
32	chr5:42021000-42021400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:42021000-42021400	Enhancers	NHEK	skin
34	chr5:42021000-42021600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:42021000-42022200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:42021400-42021800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:42021600-42021800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:42021800-42022000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:42021800-42023600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:42022000-42022200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:42022200-42022400	Enhancers	NH-A	brain
42	chr5:42022200-42023000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:42023800-42026400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:42026400-42028400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:42028400-42034600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:42032200-42033400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:42033000-42033200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:42034600-42036000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:42035800-42036200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:42036000-42036200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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