Variant report

Variant	esv3530163
Chromosome Location	chr14:65709233-65712969
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:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65708443..65711390-chr14:65727270..65732025,4	MCF-7	breast:
2	chr14:65707546..65709332-chr14:65714126..65717111,2	K562	blood:
3	chr14:65709528..65711067-chr14:65712244..65714160,2	MCF-7	breast:
4	chr14:65703266..65707350-chr14:65709369..65712516,3	K562	blood:
5	chr14:65709528..65711067-chr14:65712244..65714160,2	MCF-7	breast:
6	chr14:65630625..65634047-chr14:65708648..65711135,3	MCF-7	breast:
7	chr14:65708389..65714331-chr14:65715596..65724154,17	MCF-7	breast:
8	chr14:65707878..65709895-chr14:65801423..65803291,2	MCF-7	breast:
9	chr14:65583338..65585299-chr14:65708352..65712057,3	MCF-7	breast:
10	chr14:65703752..65707201-chr14:65707603..65710596,4	MCF-7	breast:
11	chr14:65710525..65712418-chr14:65882853..65884868,2	MCF-7	breast:
12	chr14:65687275..65689393-chr14:65708965..65710587,2	MCF-7	breast:
13	chr14:65709860..65711374-chr14:65803916..65806781,2	MCF-7	breast:
14	chr14:65708249..65716123-chr14:65876687..65882798,15	MCF-7	breast:
15	chr14:65691185..65703550-chr14:65706694..65715001,23	MCF-7	breast:
16	chr14:65711767..65715817-chr14:65877100..65880952,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-2	chr14:65708499-65709934	XLOC_011054

No data

Variant related genes	Relation type
ENSG00000255002	chromatin interactions
ENSG00000266740	chromatin interactions
ENSG00000258878	chromatin interactions
ENSG00000033170	chromatin interactions
EIF2C1	miRNA target sites

Extended variants
information (count: 165 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562348823	chr14:65709239-65709240	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs146994494	chr14:65709307-65709308	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs544793485	chr14:65709369-65709370	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs181274959	chr14:65709463-65709464	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs572474951	chr14:65709464-65709465	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs533547141	chr14:65709504-65709505	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs547246903	chr14:65709520-65709521	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs147588069	chr14:65709545-65709546	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs534489836	chr14:65709562-65709563	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs529604457	chr14:65709580-65709581	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs1256485	chr14:65709598-65709599	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574433691	chr14:65709646-65709647	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs368072220	chr14:65709659-65709660	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs537092561	chr14:65709672-65709673	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs538303063	chr14:65709719-65709720	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs551480096	chr14:65709722-65709723	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs571442376	chr14:65709749-65709750	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs533729659	chr14:65709775-65709776	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs61987800	chr14:65709777-65709778	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573833604	chr14:65709782-65709783	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs536167604	chr14:65709785-65709786	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs75000422	chr14:65709796-65709797	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs145884658	chr14:65709807-65709808	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs1256486	chr14:65709826-65709827	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564956213	chr14:65709831-65709832	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
26	rs565207376	chr14:65709833-65709834	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs572625237	chr14:65709881-65709882	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
28	rs148185043	chr14:65709884-65709885	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
29	rs540824527	chr14:65709914-65709915	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs199786736	chr14:65709920-65709921	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs560670006	chr14:65709926-65709927	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs529549292	chr14:65709930-65709931	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs558492948	chr14:65709936-65709937	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs1383594	chr14:65709939-65709940	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562872455	chr14:65709948-65709949	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs141163125	chr14:65709966-65709967	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs575635170	chr14:65709970-65709971	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs561578148	chr14:65709985-65709986	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs373336853	chr14:65709986-65709987	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs571404427	chr14:65709993-65709994	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs76986492	chr14:65710004-65710005	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs185346797	chr14:65710027-65710028	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs189765686	chr14:65710116-65710117	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs1262271	chr14:65710122-65710123	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs1383595	chr14:65710211-65710212	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs180705726	chr14:65710224-65710225	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs187197758	chr14:65710235-65710236	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs150266493	chr14:65710265-65710266	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs192510405	chr14:65710266-65710267	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs1760969	chr14:65710301-65710302	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

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
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
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	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65697400-65710600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:65703400-65711800	Enhancers	Fetal Intestine Small	intestine
4	chr14:65704800-65710400	Weak transcription	Small Intestine	intestine
5	chr14:65705000-65710400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr14:65705000-65710600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:65706000-65710600	Weak transcription	NHEK	skin
8	chr14:65706400-65709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:65706400-65710000	Weak transcription	Gastric	stomach
10	chr14:65706400-65710000	Weak transcription	K562	blood
11	chr14:65706600-65710400	Weak transcription	Pancreas	Pancrea
12	chr14:65706600-65710400	Weak transcription	HMEC	breast
13	chr14:65706600-65710400	Weak transcription	HSMM	muscle
14	chr14:65706600-65710600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:65706600-65718200	Weak transcription	Spleen	Spleen
16	chr14:65706800-65709800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:65706800-65709800	Weak transcription	NHLF	lung
18	chr14:65706800-65710400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:65706800-65710600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:65706800-65710600	Weak transcription	Osteobl	bone
21	chr14:65706800-65711000	Weak transcription	Hela-S3	cervix
22	chr14:65706800-65716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:65707000-65709600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr14:65707000-65709800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:65707000-65709800	Weak transcription	Placenta	Placenta
26	chr14:65707000-65709800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:65707000-65710200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:65707000-65710400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:65707000-65710400	Weak transcription	NHDF-Ad	bronchial
30	chr14:65707000-65710600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:65707000-65710600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr14:65707000-65710800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:65707000-65716200	Weak transcription	Brain Anterior Caudate	brain
34	chr14:65708000-65709400	Enhancers	HepG2	liver
35	chr14:65708400-65710400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:65708400-65710400	Weak transcription	Fetal Thymus	thymus
37	chr14:65708400-65716200	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:65708400-65716200	Weak transcription	Brain Substantia Nigra	brain
39	chr14:65708600-65710000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:65708800-65710600	Enhancers	HUVEC	blood vessel
41	chr14:65709000-65710600	Weak transcription	GM12878-XiMat	blood
42	chr14:65709000-65713200	Enhancers	Fetal Intestine Large	intestine
43	chr14:65709200-65709400	Enhancers	NH-A	brain
44	chr14:65709200-65710000	Enhancers	Stomach Mucosa	stomach
45	chr14:65709200-65710600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr14:65709200-65711400	Flanking Active TSS	A549	lung
47	chr14:65709400-65709800	Weak transcription	NH-A	brain
48	chr14:65709400-65711000	Flanking Active TSS	HepG2	liver
49	chr14:65709600-65711200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr14:65709800-65710000	Enhancers	NHLF	lung

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