Variant report

Variant	esv3378305
Chromosome Location	chr5:54040695-54045193
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:54037020..54040567-chr5:54043537..54047094,3	MCF-7	breast:
2	chr5:54037843..54039936-chr5:54044579..54046953,2	K562	blood:
3	chr5:54037843..54041857-chr5:54043536..54048349,6	K562	blood:
4	chr5:54037843..54041857-chr5:54043536..54048349,6	K562	blood:
5	chr5:54044170..54046541-chr5:54049727..54052446,2	MCF-7	breast:
6	chr5:54044930..54047645-chr5:54048300..54051015,2	K562	blood:
7	chr5:54039960..54041992-chr5:54042143..54044677,2	K562	blood:
8	chr5:53812268..53814960-chr5:54041334..54044388,3	MCF-7	breast:
9	chr5:54040322..54042008-chr5:54061113..54064039,2	K562	blood:
10	chr5:54039960..54041992-chr5:54042143..54044677,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178996	chromatin interactions

Extended variants
information (count: 181 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28537567	chr5:54040697-54040698	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs547112281	chr5:54040698-54040699	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs63000560	chr5:54040718-54040719	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs62354972	chr5:54040720-54040721	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs61223732	chr5:54040722-54040723	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550831596	chr5:54040724-54040725	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs373185350	chr5:54040725-54040726	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs539770320	chr5:54040728-54040729	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558049435	chr5:54040771-54040772	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs183184950	chr5:54040772-54040773	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573016231	chr5:54040793-54040794	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs13189693	chr5:54040864-54040865	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187799497	chr5:54040866-54040867	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs377691100	chr5:54040870-54040871	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs573443407	chr5:54040922-54040923	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs58554899	chr5:54040973-54040974	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs543888532	chr5:54041019-54041020	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs56081854	chr5:54041084-54041085	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs74732837	chr5:54041085-54041086	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs192619006	chr5:54041094-54041095	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs560848851	chr5:54041115-54041116	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs527932024	chr5:54041161-54041162	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs543054938	chr5:54041256-54041257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561114117	chr5:54041268-54041269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114204347	chr5:54041270-54041271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534489066	chr5:54041292-54041293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550275490	chr5:54041318-54041319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571740883	chr5:54041329-54041330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534712607	chr5:54041349-54041350	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533173105	chr5:54041359-54041360	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs56020939	chr5:54041375-54041376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570985007	chr5:54041417-54041418	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533836455	chr5:54041430-54041431	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184963384	chr5:54041491-54041492	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs578242410	chr5:54041539-54041540	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs537422318	chr5:54041558-54041559	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139075808	chr5:54041614-54041615	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577276954	chr5:54041627-54041628	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs78585791	chr5:54041638-54041639	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs147055349	chr5:54041657-54041658	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138398340	chr5:54041677-54041678	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536330762	chr5:54041699-54041700	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373683481	chr5:54041700-54041701	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34299494	chr5:54041720-54041721	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187501075	chr5:54041747-54041748	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561293711	chr5:54041757-54041758	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs531759344	chr5:54041779-54041780	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370232837	chr5:54041864-54041865	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543800827	chr5:54041949-54041950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192718860	chr5:54041951-54041952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
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
Cancer	16751803	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54034600-54041400	Weak transcription	Lung	lung
2	chr5:54036400-54041600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:54036400-54042000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:54036800-54041800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:54036800-54044800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:54037200-54042800	Weak transcription	Gastric	stomach
7	chr5:54037400-54041000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:54037400-54041200	Enhancers	NHEK	skin
9	chr5:54037600-54040800	Enhancers	HMEC	breast
10	chr5:54037600-54040800	Enhancers	Osteobl	bone
11	chr5:54037600-54041200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:54037600-54041200	Enhancers	NH-A	brain
13	chr5:54037600-54041400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:54037600-54042000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:54037800-54040800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:54037800-54041600	Enhancers	NHLF	lung
17	chr5:54038200-54040800	Enhancers	Adipose Nuclei	Adipose
18	chr5:54038200-54040800	Enhancers	HUVEC	blood vessel
19	chr5:54038200-54041200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:54038200-54041400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr5:54038200-54041600	Enhancers	HSMM	muscle
22	chr5:54038200-54041800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:54038200-54041800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr5:54038200-54041800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:54038200-54041800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr5:54038200-54041800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:54038200-54041800	Enhancers	Fetal Heart	heart
28	chr5:54038200-54042000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr5:54038200-54042600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:54038400-54040800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:54038400-54041600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr5:54038400-54041800	Enhancers	Fetal Lung	lung
33	chr5:54038400-54042800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:54038600-54041600	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr5:54038600-54041600	Weak transcription	Left Ventricle	heart
36	chr5:54038600-54041800	Enhancers	Duodenum Mucosa	Duodenum
37	chr5:54038800-54041200	Enhancers	Hela-S3	cervix
38	chr5:54038800-54041400	Weak transcription	Pancreas	Pancrea
39	chr5:54039000-54041600	Enhancers	Primary hematopoietic stem cells	blood
40	chr5:54039000-54042000	Enhancers	Dnd41	blood
41	chr5:54039400-54040800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr5:54039400-54040800	Enhancers	Fetal Muscle Leg	muscle
43	chr5:54039400-54041800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:54039600-54040800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:54039600-54040800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:54039600-54041400	Enhancers	Primary B cells from cord blood	blood
47	chr5:54039600-54041600	Enhancers	Primary B cells from peripheral blood	blood
48	chr5:54039600-54041800	Enhancers	Fetal Thymus	thymus
49	chr5:54039600-54042000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:54039600-54042600	Enhancers	Spleen	Spleen

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