Variant report

Variant	nsv984573
Chromosome Location	chr5:178619213-178643040
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178626882..178628440-chr5:178635586..178638472,2	MCF-7	breast:
2	chr5:178637418..178640045-chr5:178643551..178645345,3	MCF-7	breast:
3	chr5:178619900..178622290-chr5:178622494..178625423,2	MCF-7	breast:
4	chr5:178639660..178640480-chr5:178701010..178701947,3	MCF-7	breast:
5	chr5:178626882..178628440-chr5:178635586..178638472,2	MCF-7	breast:
6	chr5:178613030..178614553-chr5:178617663..178620440,2	K562	blood:
7	chr5:178606888..178609097-chr5:178620867..178622421,2	MCF-7	breast:
8	chr5:178631257..178632902-chr5:178635722..178638591,2	K562	blood:
9	chr5:178639654..178640533-chr5:178687929..178688900,5	MCF-7	breast:
10	chr5:178631257..178632902-chr5:178635722..178638591,2	K562	blood:
11	chr5:178619900..178622290-chr5:178622494..178625423,2	MCF-7	breast:

No data

Extended variants
information (count: 1351 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1351 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571680448	chr5:178619224-178619225	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs191802094	chr5:178619231-178619232	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs530966353	chr5:178619243-178619244	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs531776549	chr5:178619276-178619277	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs548595178	chr5:178619280-178619281	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs111941061	chr5:178619282-178619283	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs536144334	chr5:178619297-178619298	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs554402903	chr5:178619307-178619308	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs568821395	chr5:178619337-178619338	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs573083212	chr5:178619339-178619340	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs539895071	chr5:178619383-178619384	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs11748179	chr5:178619384-178619385	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11741823	chr5:178619399-178619400	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563892542	chr5:178619406-178619407	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs145466459	chr5:178619407-178619408	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs543351166	chr5:178619429-178619430	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs563396157	chr5:178619464-178619465	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs571040478	chr5:178619588-178619589	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs148811575	chr5:178619607-178619608	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs184036443	chr5:178619615-178619616	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs76617916	chr5:178619653-178619654	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs571583946	chr5:178619654-178619655	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs532492155	chr5:178619674-178619675	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs550616079	chr5:178619692-178619693	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs74487592	chr5:178619727-178619728	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs536081508	chr5:178619730-178619731	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs554744734	chr5:178619759-178619760	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs10074081	chr5:178619774-178619775	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs534077420	chr5:178619779-178619780	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs147652686	chr5:178619828-178619829	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs576877021	chr5:178619829-178619830	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs558647757	chr5:178619835-178619836	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs544325446	chr5:178619851-178619852	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs34972314	chr5:178619876-178619877	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs73809716	chr5:178619883-178619884	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs379589	chr5:178619896-178619897	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs543273694	chr5:178619956-178619957	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs142260890	chr5:178619959-178619960	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs543844373	chr5:178619962-178619963	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs187627825	chr5:178619967-178619968	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs192067069	chr5:178619979-178619980	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs532334108	chr5:178619982-178619983	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs550552870	chr5:178619998-178619999	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs540528392	chr5:178620008-178620009	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562688093	chr5:178620009-178620010	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530110889	chr5:178620111-178620112	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2052472	chr5:178620126-178620127	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566624077	chr5:178620139-178620140	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533863469	chr5:178620147-178620148	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2052471	chr5:178620167-178620168	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178594800-178627600	Weak transcription	Right Atrium	heart
2	chr5:178607400-178622200	Weak transcription	NHDF-Ad	bronchial
3	chr5:178607400-178636200	Weak transcription	HSMM	muscle
4	chr5:178607600-178626000	Weak transcription	HSMMtube	muscle
5	chr5:178607800-178629000	Weak transcription	NHLF	lung
6	chr5:178608000-178620800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:178609000-178619400	Weak transcription	Osteobl	bone
8	chr5:178609800-178619600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:178613600-178623200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:178615400-178619600	Weak transcription	Ovary	ovary
11	chr5:178615600-178619600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:178617400-178621000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:178617600-178619800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:178617800-178619400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:178617800-178619400	Enhancers	Fetal Muscle Leg	muscle
16	chr5:178617800-178619600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:178617800-178619800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:178617800-178619800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr5:178617800-178619800	Enhancers	Spleen	Spleen
20	chr5:178617800-178620000	Enhancers	Placenta	Placenta
21	chr5:178617800-178622400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:178617800-178623000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr5:178618200-178619400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:178618400-178619600	Enhancers	Fetal Brain Female	brain
25	chr5:178618400-178619800	Enhancers	Liver	Liver
26	chr5:178618400-178621000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:178618400-178622600	Weak transcription	Adipose Nuclei	Adipose
28	chr5:178618800-178620000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:178618800-178620000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:178618800-178620000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:178618800-178620000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
32	chr5:178618800-178623200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:178619000-178619600	Genic enhancers	Fetal Stomach	stomach
34	chr5:178619000-178620200	Enhancers	Fetal Brain Male	brain
35	chr5:178619000-178622200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:178619000-178625000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:178619000-178635000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:178619200-178619400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:178619200-178619400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:178619200-178619800	Enhancers	Pancreas	Pancrea
41	chr5:178619200-178620200	Enhancers	Fetal Lung	lung
42	chr5:178619200-178620400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr5:178619200-178623200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:178619400-178619800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:178619400-178620000	Enhancers	Brain Hippocampus Middle	brain
46	chr5:178619400-178620200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:178619400-178620600	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr5:178619400-178620800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr5:178619400-178621000	Strong transcription	Osteobl	bone
50	chr5:178619600-178619800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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