Variant report

Variant	esv3427141
Chromosome Location	chr5:178551711-178551980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178551778-178551828	NT2-D1	testis:	n/a
2	chr5:178551778-178551828	MCF10A-Er-Src	breast:	n/a
3	chr5:178551778-178551828	NHBE	bronchial:	n/a
4	chr5:178551778-178551828	K562	blood:	n/a
5	chr5:178551778-178551828	ECC-1	luminal epithelium:	n/a
6	chr5:178551778-178551828	HEEpiC	esophagus:	n/a
7	chr5:178551778-178551828	ovcar-3	ovarian:	n/a
8	chr5:178551778-178551828	GM12878	blood:	n/a
9	chr5:178551778-178551828	NB4	blood:	n/a
10	chr5:178551778-178551828	AG09309	skin:	n/a
11	chr5:178551778-178551828	AG09319	gingival:	n/a
12	chr5:178551778-178551828	NHDF-neo	bronchial:	n/a
13	chr5:178551778-178551828	PFSK-1	brain:	n/a
14	chr5:178551778-178551828	Hela-S3	cervix:	n/a
15	chr5:178551778-178551828	HUVEC	blood vessel:	n/a
16	chr5:178551778-178551828	SAEC	small airway:	n/a
17	chr5:178551778-178551828	HRPEpiC	eye:	n/a
18	chr5:178551778-178551828	AG10803	skin:	n/a
19	chr5:178551778-178551828	HAEpiC	amniotic membrane:	n/a
20	chr5:178551778-178551828	Jurkat	blood:	n/a
21	chr5:178551778-178551828	LNCaP	prostate:	n/a
22	chr5:178551778-178551828	HCF	heart:	n/a
23	chr5:178551778-178551828	PrEC	prostate:	n/a
24	chr5:178551778-178551828	RPTEC	kidney:	n/a
25	chr5:178551778-178551828	H1-hESC	embryonic stem cell:	embryo
26	chr5:178551778-178551828	HCT-116	colon:	n/a
27	chr5:178551778-178551828	GM12891	blood:	n/a
28	chr5:178551778-178551828	GM19239	blood:	n/a
29	chr5:178551778-178551828	HepG2	liver:	n/a
30	chr5:178551778-178551828	Hepatocyte	liver:	n/a
31	chr5:178551778-178551828	HPAEpiC	pulmonary alveolar:	n/a
32	chr5:178551778-178551828	SK-N-SH	brain:	n/a
33	chr5:178551778-178551828	AG04450	lung:	fetal
34	chr5:178551778-178551828	HNPCEpiC	eye:	n/a
35	chr5:178551778-178551828	GM12892	blood:	n/a
36	chr5:178551778-178551828	MCF-7	breast:	n/a
37	chr5:178551778-178551828	CMK	blood:	n/a
38	chr5:178551778-178551828	HRE	kidney:	n/a
39	chr5:178551778-178551828	HL-60	blood:	n/a
40	chr5:178551778-178551828	NH-A	brain:	n/a
41	chr5:178551778-178551828	SK-N-SH_RA	brain:	n/a
42	chr5:178551778-178551828	HRCEpiC	kidney:	n/a
43	chr5:178551778-178551828	HEK293	kidney:	embryo
44	chr5:178551778-178551828	U87	brain:	n/a
45	chr5:178551778-178551828	SK-N-MC	brain:	n/a
46	chr5:178551778-178551828	HCM	heart:	n/a
47	chr5:178551778-178551828	Caco-2	colon:	n/a
48	chr5:178551778-178551828	GM06990	blood:	n/a
49	chr5:178551778-178551828	AoSMC	blood vessel:	n/a
50	chr5:178551778-178551828	PANC-1	pancreas:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178486462..178489225-chr5:178551148..178554695,3	MCF-7	breast:
2	chr5:178547111..178548841-chr5:178551234..178553296,2	K562	blood:
3	chr5:178547111..178548845-chr5:178551796..178553713,2	K562	blood:

No data

Variant related genes	Relation type
ADAMTS2	CpG island
ENSG00000177932	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569981984	chr5:178551727-178551728	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138224741	chr5:178551735-178551736	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555483577	chr5:178551788-178551789	ZNF genes & repeats Strong transcription Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567122492	chr5:178551792-178551793	ZNF genes & repeats Strong transcription Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs534465059	chr5:178551805-178551806	ZNF genes & repeats Strong transcription Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs552758908	chr5:178551821-178551822	ZNF genes & repeats Strong transcription Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs142717271	chr5:178551823-178551824	ZNF genes & repeats Strong transcription Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545003323	chr5:178551839-178551840	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186505846	chr5:178551847-178551848	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575170880	chr5:178551859-178551860	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542739331	chr5:178551868-178551869	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370073752	chr5:178551870-178551871	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560916137	chr5:178551876-178551877	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111411357	chr5:178551885-178551886	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs73806893	chr5:178551887-178551888	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191839572	chr5:178551888-178551889	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs559715728	chr5:178551909-178551910	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533657687	chr5:178551919-178551920	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367788278	chr5:178551930-178551931	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369213385	chr5:178551935-178551936	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373678472	chr5:178551941-178551942	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs199770691	chr5:178551953-178551954	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200469634	chr5:178551954-178551955	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375272661	chr5:178551956-178551957	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374453171	chr5:178551962-178551963	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs377461767	chr5:178551967-178551968	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370239549	chr5:178551969-178551970	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs375345961	chr5:178551970-178551971	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178527800-178559800	Weak transcription	HSMM	muscle
2	chr5:178538000-178560400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:178538200-178564600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:178545000-178555000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:178545800-178552800	ZNF genes & repeats	Fetal Stomach	stomach
6	chr5:178546000-178554000	Weak transcription	HSMMtube	muscle
7	chr5:178546800-178563200	Strong transcription	Adipose Nuclei	Adipose
8	chr5:178547000-178565400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:178547400-178560200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:178547600-178552800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:178547600-178552800	ZNF genes & repeats	Spleen	Spleen
12	chr5:178547600-178560200	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr5:178547800-178560400	Strong transcription	Ovary	ovary
14	chr5:178548000-178559800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:178548200-178554800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:178548600-178570000	Weak transcription	NHDF-Ad	bronchial
17	chr5:178549000-178553600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:178549400-178557000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:178549400-178590800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:178549600-178553600	ZNF genes & repeats	Gastric	stomach
21	chr5:178549600-178567400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:178549800-178552000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:178550200-178556200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:178550400-178565600	Weak transcription	Esophagus	oesophagus
25	chr5:178550800-178559600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:178551200-178553800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:178551200-178555800	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:178551200-178560200	Weak transcription	Fetal Intestine Small	intestine
29	chr5:178551400-178553000	Strong transcription	NHLF	lung
30	chr5:178551400-178554400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:178551400-178559400	Weak transcription	Fetal Lung	lung
32	chr5:178551400-178559400	Strong transcription	Osteobl	bone
33	chr5:178551600-178582800	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links