Variant report

Variant	esv3444044
Chromosome Location	chr5:40860244-40888483
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:28)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:40754836..40755851-chr5:40878943..40880145,7	K562	blood:
2	chr5:40879793..40882550-chr5:40882872..40884630,2	K562	blood:
3	chr5:40887409..40889987-chr5:40893974..40896767,2	MCF-7	breast:
4	chr5:40840448..40842077-chr5:40865618..40867918,2	K562	blood:
5	chr5:40833884..40836712-chr5:40873210..40875645,3	MCF-7	breast:
6	chr5:40862902..40865200-chr5:40878368..40881036,2	K562	blood:
7	chr5:40862902..40865200-chr5:40878368..40881036,2	K562	blood:
8	chr5:40774463..40775388-chr5:40879209..40879987,4	MCF-7	breast:
9	chr5:40857647..40860536-chr5:40876647..40878892,2	K562	blood:
10	chr5:40839617..40842545-chr5:40884343..40886931,2	K562	blood:
11	chr5:40754832..40756166-chr5:40878991..40879947,5	MCF-7	breast:
12	chr5:40853807..40855420-chr5:40862463..40864172,2	K562	blood:
13	chr5:40753879..40756719-chr5:40886752..40889953,3	K562	blood:
14	chr5:40834243..40835904-chr5:40876719..40878395,2	K562	blood:
15	chr5:40833348..40835885-chr5:40864377..40867574,3	MCF-7	breast:
16	chr5:40833805..40835893-chr5:40886432..40888322,2	MCF-7	breast:
17	chr5:40861136..40863091-chr5:40865638..40868114,2	K562	blood:
18	chr5:40832972..40835291-chr5:40861016..40862549,2	MCF-7	breast:
19	chr5:40833133..40835990-chr5:40867095..40868657,2	K562	blood:
20	chr5:40877064..40878620-chr5:40889249..40891456,2	MCF-7	breast:
21	chr5:40858083..40859601-chr5:40868438..40871076,2	K562	blood:
22	chr5:40825063..40827594-chr5:40875913..40878688,2	K562	blood:
23	chr5:40861136..40863091-chr5:40865638..40868114,2	K562	blood:
24	chr5:40826490..40828948-chr5:40858944..40860973,4	K562	blood:
25	chr5:40825327..40827684-chr5:40878879..40880894,2	K562	blood:
26	chr5:40833772..40836669-chr5:40869821..40875738,8	MCF-7	breast:
27	chr5:40879793..40882550-chr5:40882872..40884630,2	K562	blood:
28	chr5:40857647..40860536-chr5:40876647..40878892,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPL37-1	chr5:40861163-40863498	ucscGeneNc_uc003jmd_1

No data

Variant related genes	Relation type
ENSG00000132357	chromatin interactions
ENSG00000113638	chromatin interactions
ENSG00000145592	chromatin interactions

Extended variants
information (count: 1063 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1063 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143266204	chr5:40860248-40860249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79220182	chr5:40860275-40860276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564445377	chr5:40860310-40860311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190989756	chr5:40860335-40860336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531697250	chr5:40860374-40860375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541743779	chr5:40860375-40860376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549891016	chr5:40860441-40860442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562139396	chr5:40860448-40860449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62357608	chr5:40860518-40860519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75294779	chr5:40860521-40860522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148327849	chr5:40860545-40860546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559242654	chr5:40860580-40860581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532914292	chr5:40860607-40860608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183554565	chr5:40860631-40860632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187906504	chr5:40860648-40860649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551477088	chr5:40860684-40860685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113246747	chr5:40860756-40860757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533155723	chr5:40860763-40860764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555043131	chr5:40860779-40860780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573629271	chr5:40860846-40860847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140519064	chr5:40860860-40860861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548448369	chr5:40860884-40860885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563343742	chr5:40860991-40860992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528997381	chr5:40861045-40861046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113483496	chr5:40861051-40861052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577370304	chr5:40861072-40861073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565843707	chr5:40861119-40861120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111476914	chr5:40861153-40861154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192383144	chr5:40861175-40861176	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs184583150	chr5:40861191-40861192	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs34824851	chr5:40861254-40861255	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs1097604	chr5:40861295-40861296	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188540755	chr5:40861336-40861337	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs376750683	chr5:40861421-40861422	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs376127640	chr5:40861430-40861431	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs192756472	chr5:40861520-40861521	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs150454608	chr5:40861609-40861610	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs184817334	chr5:40861638-40861639	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs138435898	chr5:40861707-40861708	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs111305477	chr5:40861742-40861743	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs143044764	chr5:40861743-40861744	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs146157610	chr5:40861767-40861768	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs544751487	chr5:40861778-40861779	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs530519603	chr5:40861779-40861780	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs62357609	chr5:40861790-40861791	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs567111832	chr5:40861797-40861798	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs837387	chr5:40861805-40861806	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575091568	chr5:40861820-40861821	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs570391340	chr5:40861824-40861825	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs368706904	chr5:40861826-40861827	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40852800-40865200	Weak transcription	Pancreas	Pancrea
2	chr5:40854600-40862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:40856200-40871400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:40858600-40863200	Weak transcription	Right Atrium	heart
5	chr5:40862200-40862600	Enhancers	HepG2	liver
6	chr5:40865000-40866600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:40866400-40867600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:40866600-40867200	Enhancers	Placenta	Placenta
9	chr5:40866600-40868000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:40867600-40871800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:40868000-40868600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:40870400-40871400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:40870600-40871400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:40870800-40871800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:40870800-40871800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:40870800-40872000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr5:40871000-40871400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:40871000-40871800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:40871000-40871800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:40871000-40871800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:40871000-40872000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:40871200-40871600	Enhancers	Stomach Mucosa	stomach
23	chr5:40871200-40871800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:40871400-40871800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:40871400-40872200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:40871800-40872000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:40871800-40872200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:40872000-40876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:40872200-40872800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:40872200-40873400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:40872200-40874000	Enhancers	GM12878-XiMat	blood
32	chr5:40872800-40873600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:40873400-40873800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:40879400-40879600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:40879400-40879600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:40879400-40879600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:40879400-40879600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr5:40879400-40879600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr5:40879400-40879600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr5:40879400-40879600	Enhancers	Fetal Lung	lung
41	chr5:40879400-40879600	Enhancers	A549	lung
42	chr5:40879400-40879600	Enhancers	K562	blood
43	chr5:40879400-40879600	Enhancers	NHDF-Ad	bronchial
44	chr5:40879400-40879600	Enhancers	NHLF	lung
45	chr5:40879400-40879600	Enhancers	Osteobl	bone
46	chr5:40879400-40879800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:40879400-40880000	Enhancers	Liver	Liver
48	chr5:40879400-40880000	Enhancers	Hela-S3	cervix
49	chr5:40882400-40884800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:40883000-40883400	Enhancers	Fetal Intestine Large	intestine

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