Variant report

Variant	esv3530631
Chromosome Location	chr14:55542536-55543793
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55516915..55519975-chr14:55539860..55542972,3	MCF-7	breast:
2	chr14:55541160..55544026-chr14:55549457..55552985,4	K562	blood:
3	chr14:55540168..55541709-chr14:55541911..55544234,2	MCF-7	breast:
4	chr14:55537560..55539994-chr14:55540251..55542557,2	K562	blood:
5	chr14:55540374..55545656-chr14:55545839..55552985,7	K562	blood:
6	chr14:55532764..55536002-chr14:55540824..55544423,3	MCF-7	breast:
7	chr14:55517772..55519783-chr14:55542874..55545035,3	MCF-7	breast:
8	chr14:55541558..55543377-chr14:55546059..55547718,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168175	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561622933	chr14:55542585-55542586	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529037195	chr14:55542589-55542590	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368322300	chr14:55542679-55542680	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563100869	chr14:55542757-55542758	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533641963	chr14:55542798-55542799	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372344702	chr14:55542808-55542809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528966613	chr14:55542831-55542832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs8005399	chr14:55542845-55542846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs533945448	chr14:55542851-55542852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79940222	chr14:55542852-55542853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567412928	chr14:55542896-55542897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs34407334	chr14:55542918-55542919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537983339	chr14:55542942-55542943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs150305950	chr14:55542944-55542945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575112897	chr14:55542956-55542957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551682056	chr14:55542963-55542964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539678243	chr14:55542979-55542980	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557768883	chr14:55542992-55542993	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573136242	chr14:55543004-55543005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111263189	chr14:55543018-55543019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539836152	chr14:55543037-55543038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561699111	chr14:55543053-55543054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573754368	chr14:55543102-55543103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200441256	chr14:55543103-55543104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149548367	chr14:55543104-55543105	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs6573000	chr14:55543127-55543128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181906969	chr14:55543137-55543138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552006135	chr14:55543147-55543148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560621048	chr14:55543148-55543149	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140461384	chr14:55543185-55543186	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10144886	chr14:55543193-55543194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187017588	chr14:55543199-55543200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs537913914	chr14:55543204-55543205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7147753	chr14:55543244-55543245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536003137	chr14:55543254-55543255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs568663249	chr14:55543262-55543263	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370651868	chr14:55543265-55543266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539251796	chr14:55543280-55543281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557971093	chr14:55543284-55543285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs55985563	chr14:55543288-55543289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs367700973	chr14:55543289-55543290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573036768	chr14:55543328-55543329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534120490	chr14:55543366-55543367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556528560	chr14:55543377-55543378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191393737	chr14:55543379-55543380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544286510	chr14:55543387-55543388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs562575430	chr14:55543443-55543444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555889810	chr14:55543457-55543458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577716555	chr14:55543502-55543503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs2147968	chr14:55543507-55543508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16397240	CNVD
Breast cancer	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55530000-55544200	Weak transcription	Right Atrium	heart
2	chr14:55530000-55544200	Weak transcription	Right Ventricle	heart
3	chr14:55530000-55554000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:55530800-55544200	Weak transcription	Colonic Mucosa	Colon
5	chr14:55531000-55544200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:55532400-55544000	Weak transcription	Esophagus	oesophagus
7	chr14:55535000-55544400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:55535600-55544000	Weak transcription	A549	lung
9	chr14:55536600-55543000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:55536600-55544200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:55538000-55542800	Enhancers	HSMM	muscle
12	chr14:55538000-55543000	Enhancers	HMEC	breast
13	chr14:55538200-55542800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:55538400-55543000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:55539200-55543800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr14:55539200-55544400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:55539400-55542800	Enhancers	Primary B cells from peripheral blood	blood
18	chr14:55539400-55542800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:55539400-55543200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:55539400-55544000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:55539600-55543200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:55539600-55543600	Weak transcription	Placenta	Placenta
23	chr14:55539600-55543800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr14:55539600-55543800	Weak transcription	Fetal Intestine Large	intestine
25	chr14:55539600-55544400	Weak transcription	Left Ventricle	heart
26	chr14:55539800-55543600	Weak transcription	Fetal Intestine Small	intestine
27	chr14:55540200-55542800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr14:55540200-55544000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:55540400-55542800	Enhancers	HSMMtube	muscle
30	chr14:55540400-55542800	Enhancers	NH-A	brain
31	chr14:55540600-55543000	Enhancers	Hela-S3	cervix
32	chr14:55541200-55542800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:55541200-55543000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:55541200-55543000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:55541400-55542600	Enhancers	Duodenum Mucosa	Duodenum
36	chr14:55541400-55542800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr14:55541400-55543000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:55541600-55543800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:55541600-55543800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:55541600-55544000	Weak transcription	Fetal Muscle Leg	muscle
41	chr14:55541600-55556800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:55541800-55542600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:55541800-55542800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:55541800-55542800	Enhancers	NHLF	lung
45	chr14:55541800-55542800	Enhancers	Osteobl	bone
46	chr14:55541800-55543000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:55541800-55543800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:55541800-55543800	Weak transcription	Stomach Mucosa	stomach
49	chr14:55541800-55543800	Enhancers	NHEK	skin
50	chr14:55541800-55544000	Weak transcription	H9 Cell Line	embryonic stem cell

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