Variant report

Variant	nsv5041
Chromosome Location	chr5:142653189-142697896
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:17)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:142664010..142666464-chr5:142736050..142738721,2	K562	blood:
2	chr5:142692596..142694749-chr5:142742836..142745085,2	K562	blood:
3	chr5:142658714..142660899-chr5:142788959..142790974,2	K562	blood:
4	chr5:142667219..142669950-chr5:142671988..142675283,3	K562	blood:
5	chr5:142672258..142673872-chr5:142678279..142679872,2	K562	blood:
6	chr5:142655877..142658006-chr5:142659926..142661730,2	K562	blood:
7	chr5:142655877..142658006-chr5:142659926..142661730,2	K562	blood:
8	chr5:142677715..142680053-chr5:142689105..142691252,2	K562	blood:
9	chr5:142652889..142654732-chr5:142654919..142656480,2	K562	blood:
10	chr5:142685940..142686838-chr5:143204805..143205503,2	K562	blood:
11	chr5:142667219..142669950-chr5:142671988..142675283,3	K562	blood:
12	chr5:142692199..142694089-chr5:142770902..142772456,2	K562	blood:
13	chr5:142692942..142695069-chr5:142695202..142696766,2	K562	blood:
14	chr5:142659505..142662280-chr5:142782348..142785528,3	K562	blood:
15	chr5:142661940..142664778-chr5:142666941..142669072,2	K562	blood:
16	chr5:142677715..142680053-chr5:142689105..142691252,2	K562	blood:
17	chr5:142667219..142669950-chr5:142672970..142675283,2	K562	blood:
18	chr5:142661940..142664778-chr5:142666941..142669072,2	K562	blood:
19	chr5:142608719..142611580-chr5:142662478..142664615,2	K562	blood:
20	chr5:142692942..142695069-chr5:142695202..142696766,2	K562	blood:
21	chr5:142672258..142673872-chr5:142678279..142679872,2	K562	blood:
22	chr5:142694144..142696912-chr5:142699243..142701777,2	K562	blood:
23	chr5:142667219..142669950-chr5:142672970..142675283,2	K562	blood:
24	chr5:142652889..142654732-chr5:142654919..142656480,2	K562	blood:

No data

(count:17 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	NR3C1	hsa-miR-124-3p	chr5:142661451-142661445
2	NR3C1	hsa-miR-124-3p	chr5:142660962-142660956
3	NR3C1	hsa-miR-22-3p	chr5:142660842-142660835
4	NR3C1	hsa-miR-130b-3p	chr5:142659482-142659503
5	NR3C1	hsa-miR-18a-5p	chr5:142660075-142660068
6	NR3C1	hsa-miR-421	chr5:142660121-142660148
7	NR3C1	hsa-miR-421	chr5:142657948-142657971
8	NR3C1	hsa-miR-22-3p	chr5:142660836-142660859
9	NR3C1	hsa-miR-18a-5p	chr5:142660069-142660091
10	NR3C1	hsa-miR-421	chr5:142657752-142657773
11	NR3C1	hsa-miR-590-3p	chr5:142657783-142657803
12	NR3C1	hsa-miR-421	chr5:142660784-142660808
13	NR3C1	hsa-miR-124-3p	chr5:142661433-142661427
14	NR3C1	hsa-miR-124-3p	chr5:142660956-142660975
15	NR3C1	hsa-miR-155-5p	chr5:142657828-142657850
16	NR3C1	hsa-miR-421	chr5:142658643-142658664
17	NR3C1	hsa-miR-590-3p	chr5:142657778-142657772

Variant related genes	Relation type
ENSG00000113580	chromatin interactions

Extended variants
information (count: 1617 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1617 , 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	rs570676645	chr5:142653189-142653190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539752778	chr5:142653197-142653198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546841714	chr5:142653220-142653221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs118081797	chr5:142653222-142653223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73295690	chr5:142653255-142653256	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs201163264	chr5:142653279-142653280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555615220	chr5:142653290-142653291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575672976	chr5:142653292-142653293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559777967	chr5:142653320-142653321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534652347	chr5:142653323-142653324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537926791	chr5:142653347-142653348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189439268	chr5:142653400-142653401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368584370	chr5:142653431-142653432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548205353	chr5:142653472-142653473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76761057	chr5:142653512-142653513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568014115	chr5:142653612-142653613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577073439	chr5:142653641-142653642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182270617	chr5:142653760-142653761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553292051	chr5:142653764-142653765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79153794	chr5:142653791-142653792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541784295	chr5:142653810-142653811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145579406	chr5:142653843-142653844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34164906	chr5:142653871-142653872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368496908	chr5:142653877-142653878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187501589	chr5:142653904-142653905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139647364	chr5:142653915-142653916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375306156	chr5:142653919-142653920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577626157	chr5:142653921-142653922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190635091	chr5:142653931-142653932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533345498	chr5:142653934-142653935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537055554	chr5:142654031-142654032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78648210	chr5:142654036-142654037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546931354	chr5:142654044-142654045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182881122	chr5:142654065-142654066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372075010	chr5:142654070-142654071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537453125	chr5:142654086-142654087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549380760	chr5:142654101-142654102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60381322	chr5:142654107-142654108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557062818	chr5:142654118-142654119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538349970	chr5:142654137-142654138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374929791	chr5:142654141-142654142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558239787	chr5:142654180-142654181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570698444	chr5:142654192-142654193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576888032	chr5:142654309-142654310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553330603	chr5:142654329-142654330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185271937	chr5:142654339-142654340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190287880	chr5:142654343-142654344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182853124	chr5:142654438-142654439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541723754	chr5:142654442-142654443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539202722	chr5:142654443-142654444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	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
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Schizophrenia	19546859	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	21062161	CNVD
Developmental delay	19128483	CNVD
Leukoplakia	24403051	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1402 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142642600-142658200	Weak transcription	Osteobl	bone
2	chr5:142643000-142658000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:142646600-142672400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr5:142647800-142658800	Weak transcription	Hela-S3	cervix
5	chr5:142648400-142654600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:142648800-142656600	Weak transcription	Primary B cells from cord blood	blood
7	chr5:142649000-142658000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:142649600-142656000	Weak transcription	HSMM	muscle
9	chr5:142650000-142657200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:142650000-142674000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:142650200-142658000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr5:142650400-142658000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:142650600-142677200	Weak transcription	Aorta	Aorta
14	chr5:142650800-142659200	Weak transcription	Thymus	Thymus
15	chr5:142651400-142654800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr5:142651600-142654600	Weak transcription	A549	lung
17	chr5:142652000-142654600	Weak transcription	GM12878-XiMat	blood
18	chr5:142652000-142655000	Weak transcription	Dnd41	blood
19	chr5:142652200-142669800	Weak transcription	Left Ventricle	heart
20	chr5:142652400-142659400	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:142652800-142655800	Weak transcription	NHDF-Ad	bronchial
22	chr5:142652800-142660200	Weak transcription	NH-A	brain
23	chr5:142653000-142656600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:142653000-142658400	Weak transcription	Fetal Lung	lung
25	chr5:142653000-142671200	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:142653200-142655600	Weak transcription	Primary T cells from cord blood	blood
27	chr5:142653200-142658000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:142653200-142674800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr5:142654000-142659400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:142654200-142659200	Weak transcription	HSMMtube	muscle
31	chr5:142654400-142654600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:142654400-142656400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:142654400-142656400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr5:142654600-142654800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:142654600-142654800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:142654600-142654800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:142654600-142655000	Enhancers	K562	blood
38	chr5:142654600-142655000	Enhancers	NHEK	skin
39	chr5:142654600-142656000	Genic enhancers	A549	lung
40	chr5:142654600-142656200	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr5:142654600-142656400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr5:142654600-142659400	Strong transcription	GM12878-XiMat	blood
43	chr5:142654600-142666600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:142654800-142655000	Enhancers	HMEC	breast
45	chr5:142654800-142656000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:142654800-142656000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:142654800-142656400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr5:142654800-142658200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:142654800-142658400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:142654800-142659400	Weak transcription	NHLF	lung

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