Variant report

Variant	nsv600500
Chromosome Location	chr5:178659691-178713712
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178673165..178675582-chr5:178682729..178684288,2	MCF-7	breast:
2	chr5:178639654..178640533-chr5:178687929..178688900,5	MCF-7	breast:
3	chr5:178694647..178697268-chr5:179049140..179050881,2	MCF-7	breast:
4	chr5:178639660..178640480-chr5:178701010..178701947,3	MCF-7	breast:
5	chr5:178669101..178670915-chr5:178673147..178675746,2	MCF-7	breast:
6	chr5:178570203..178571201-chr5:178687913..178688718,3	MCF-7	breast:
7	chr5:178669552..178671241-chr5:178672789..178674406,2	K562	blood:
8	chr5:178662646..178664463-chr5:178900746..178903231,2	K562	blood:
9	chr5:178219952..178220766-chr5:178688074..178688887,3	MCF-7	breast:
10	chr5:178669552..178671241-chr5:178672789..178674406,2	K562	blood:
11	chr5:178698907..178700648-chr5:178703533..178706246,2	MCF-7	breast:
12	chr5:178649094..178651976-chr5:178660819..178662665,2	MCF-7	breast:
13	chr5:178652878..178655223-chr5:178665952..178668603,2	K562	blood:
14	chr5:178694614..178696474-chr5:178699270..178701166,2	K562	blood:
15	chr5:178545417..178547035-chr5:178698975..178701216,2	K562	blood:
16	chr5:178673165..178675582-chr5:178682729..178684288,2	MCF-7	breast:
17	chr5:178694614..178696474-chr5:178699270..178701166,2	K562	blood:
18	chr5:178669101..178670915-chr5:178673147..178675746,2	MCF-7	breast:
19	chr5:178694614..178696834-chr5:178698467..178700770,2	K562	blood:
20	chr5:178688082..178688899-chr5:178920410..178921212,2	MCF-7	breast:
21	chr5:178570556..178571105-chr5:178687987..178688905,2	MCF-7	breast:
22	chr5:178593807..178594987-chr5:178687910..178688845,5	MCF-7	breast:
23	chr5:178698907..178700648-chr5:178703533..178706246,2	MCF-7	breast:
24	chr5:178694614..178696834-chr5:178698467..178700770,2	K562	blood:
25	chr5:178687965..178688655-chr5:178920708..178921301,2	K562	blood:
26	chr5:178650071..178651966-chr5:178658345..178660809,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169045	chromatin interactions

Extended variants
information (count: 2539 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2539 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs456909	chr5:178659691-178659692	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533682028	chr5:178659709-178659710	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142581012	chr5:178659714-178659715	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187146475	chr5:178659715-178659716	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146738505	chr5:178659735-178659736	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557386713	chr5:178659741-178659742	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72818676	chr5:178659772-178659773	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542928543	chr5:178659774-178659775	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370781402	chr5:178659781-178659782	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79556951	chr5:178659791-178659792	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189933539	chr5:178659794-178659795	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181297150	chr5:178659837-178659838	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573261471	chr5:178659844-178659845	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540740484	chr5:178659850-178659851	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565330651	chr5:178659954-178659955	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185366448	chr5:178659998-178659999	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138044547	chr5:178660010-178660011	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562522670	chr5:178660024-178660025	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200504785	chr5:178660045-178660046	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530051219	chr5:178660085-178660086	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115486854	chr5:178660105-178660106	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115717939	chr5:178660110-178660111	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114151468	chr5:178660159-178660160	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189775611	chr5:178660205-178660206	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555356980	chr5:178660261-178660262	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570180001	chr5:178660279-178660280	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537530470	chr5:178660302-178660303	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557558143	chr5:178660322-178660323	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201320060	chr5:178660386-178660387	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs398000067	chr5:178660391-178660392	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200621108	chr5:178660392-178660393	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547354213	chr5:178660420-178660421	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs536990942	chr5:178660454-178660455	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs182074311	chr5:178660481-178660482	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs573277523	chr5:178660487-178660488	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs186271714	chr5:178660590-178660591	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs559107282	chr5:178660597-178660598	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs7714209	chr5:178660640-178660641	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs143484638	chr5:178660641-178660642	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs562745203	chr5:178660644-178660645	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs150511306	chr5:178660649-178660650	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs541724537	chr5:178660730-178660731	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs559990089	chr5:178660764-178660765	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs76312903	chr5:178660770-178660771	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs138355375	chr5:178660930-178660931	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs552496886	chr5:178660962-178660963	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs563719574	chr5:178660969-178660970	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs531479314	chr5:178661044-178661045	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs114690751	chr5:178661045-178661046	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs569440940	chr5:178661071-178661072	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178645000-178667800	Weak transcription	Right Atrium	heart
2	chr5:178652000-178670000	Weak transcription	NHLF	lung
3	chr5:178652400-178670400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:178655000-178664400	Weak transcription	Fetal Lung	lung
5	chr5:178655200-178666800	Weak transcription	Adipose Nuclei	Adipose
6	chr5:178655600-178660400	Strong transcription	Osteobl	bone
7	chr5:178655600-178661000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:178655800-178663400	Weak transcription	Spleen	Spleen
9	chr5:178656000-178671000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:178656200-178661000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:178656200-178661000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:178656200-178661400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:178656600-178660200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:178657000-178660000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:178657200-178662400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:178657600-178660600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:178658200-178660800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:178658400-178661200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:178658800-178661200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:178659000-178660800	Weak transcription	Ovary	ovary
21	chr5:178659000-178661000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:178659000-178661400	Enhancers	Fetal Stomach	stomach
23	chr5:178659000-178661600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:178659200-178660400	Enhancers	Fetal Brain Female	brain
25	chr5:178659200-178660600	Enhancers	Fetal Brain Male	brain
26	chr5:178659200-178661400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:178659400-178659800	Strong transcription	HSMMtube	muscle
28	chr5:178659400-178670200	Weak transcription	HSMM	muscle
29	chr5:178659600-178663800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:178659600-178664000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:178659800-178669800	Weak transcription	HSMMtube	muscle
32	chr5:178660000-178663800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:178660200-178663800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:178660400-178661400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr5:178660400-178663000	Weak transcription	Osteobl	bone
36	chr5:178660600-178662200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:178660800-178661000	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr5:178660800-178661200	Enhancers	Ovary	ovary
39	chr5:178660800-178661400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:178661000-178661400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:178661000-178661400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr5:178661000-178661400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:178661000-178661400	Enhancers	Fetal Muscle Leg	muscle
44	chr5:178661000-178664200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:178661200-178661400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:178661200-178661400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:178661200-178663200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:178661200-178670200	Weak transcription	Ovary	ovary
49	chr5:178661400-178662000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:178661400-178662000	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links