Variant report

Variant	esv3381395
Chromosome Location	chr5:178082246-178086544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178068917..178070441-chr5:178081330..178082973,2	MCF-7	breast:
2	chr5:178085944..178088842-chr5:178089934..178092038,2	K562	blood:
3	chr5:178072351..178074150-chr5:178081295..178082959,2	MCF-7	breast:
4	chr5:178082180..178084775-chr5:178097053..178099400,3	MCF-7	breast:
5	chr5:178067993..178069564-chr5:178084194..178086392,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35604659	chr5:178082252-178082253	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115688070	chr5:178082314-178082315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554923019	chr5:178082318-178082319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573389392	chr5:178082329-178082330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112037198	chr5:178082372-178082373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373735131	chr5:178082389-178082390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368267572	chr5:178082390-178082391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558659919	chr5:178082403-178082404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576997333	chr5:178082405-178082406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544255829	chr5:178082422-178082423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201773222	chr5:178082436-178082437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562492110	chr5:178082448-178082449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373546882	chr5:178082465-178082466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574453025	chr5:178082473-178082474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376526691	chr5:178082474-178082475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148146592	chr5:178082504-178082505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180967224	chr5:178082517-178082518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141601721	chr5:178082521-178082522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187132290	chr5:178082558-178082559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146221412	chr5:178082594-178082595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139088638	chr5:178082595-178082596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568918951	chr5:178082663-178082664	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs577017496	chr5:178082683-178082684	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs545874874	chr5:178082697-178082698	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs536199858	chr5:178082705-178082706	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs548912084	chr5:178082760-178082761	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs567043501	chr5:178082786-178082787	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs534439889	chr5:178082824-178082825	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs11740396	chr5:178082841-178082842	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576081096	chr5:178082869-178082870	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs73804419	chr5:178082906-178082907	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192401105	chr5:178082910-178082911	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs556255303	chr5:178082918-178082919	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs6893399	chr5:178082945-178082946	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541450275	chr5:178082995-178082996	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	21990379	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178079000-178082400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:178079000-178082400	Weak transcription	NHDF-Ad	bronchial
3	chr5:178079200-178082400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:178079200-178082400	Weak transcription	Osteobl	bone
5	chr5:178082000-178083000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:178082200-178083000	Enhancers	Fetal Heart	heart
7	chr5:178082400-178082600	Enhancers	Rectal Smooth Muscle	rectum
8	chr5:178082400-178082600	Enhancers	Osteobl	bone
9	chr5:178082400-178082800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:178082400-178082800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:178082400-178082800	Enhancers	NHEK	skin
12	chr5:178082400-178083000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:178082400-178083000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr5:178082400-178083000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:178082400-178083000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:178082400-178083000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:178082400-178083000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:178082400-178083000	Enhancers	NHDF-Ad	bronchial
19	chr5:178082600-178082800	Enhancers	Fetal Stomach	stomach
20	chr5:178082600-178083000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:178082600-178083000	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr5:178082600-178083000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
23	chr5:178082600-178083000	Flanking Active TSS	Osteobl	bone

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