Variant report

Variant	esv1802727
Chromosome Location	chr14:65634797-65646536
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65643251..65645362-chr14:65877953..65879634,2	MCF-7	breast:
2	chr14:65635954..65639205-chr14:65640166..65643842,3	MCF-7	breast:
3	chr14:65631339..65634911-chr14:65637124..65640936,4	MCF-7	breast:
4	chr14:65631339..65634911-chr14:65637124..65640936,4	MCF-7	breast:
5	chr14:65645421..65648212-chr14:65877162..65880498,3	MCF-7	breast:
6	chr14:65646236..65649201-chr14:65694087..65695699,2	MCF-7	breast:
7	chr14:65630699..65635625-chr14:65877685..65881184,7	MCF-7	breast:
8	chr14:65642446..65645436-chr14:65699678..65702269,2	MCF-7	breast:
9	chr14:65640216..65642886-chr14:65645703..65648052,2	MCF-7	breast:
10	chr14:65635781..65638807-chr14:65641309..65644199,4	MCF-7	breast:
11	chr14:65635781..65638807-chr14:65641309..65644199,4	MCF-7	breast:
12	chr14:65637279..65639473-chr14:65641141..65644140,2	K562	blood:
13	chr14:65641252..65644123-chr14:65876327..65878727,2	MCF-7	breast:
14	chr14:65639777..65642769-chr14:65644370..65646796,2	K562	blood:
15	chr14:65629176..65630722-chr14:65633709..65636408,2	K562	blood:
16	chr14:65637279..65639473-chr14:65641141..65644140,2	K562	blood:
17	chr14:65633532..65639308-chr14:65876570..65881222,11	MCF-7	breast:
18	chr14:65639777..65642769-chr14:65644370..65646796,2	K562	blood:
19	chr14:65635954..65639205-chr14:65640166..65643842,3	MCF-7	breast:
20	chr14:65640216..65642886-chr14:65645703..65648052,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258878	chromatin interactions
ENSG00000033170	chromatin interactions

Extended variants
information (count: 542 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11621526	chr14:65634797-65634798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569051568	chr14:65634798-65634799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538044072	chr14:65634816-65634817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557698587	chr14:65634819-65634820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538424512	chr14:65634833-65634834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187337675	chr14:65634866-65634867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141725295	chr14:65634873-65634874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553754116	chr14:65634919-65634920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs55958790	chr14:65634934-65634935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568562607	chr14:65634985-65634986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529223447	chr14:65634995-65634996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144568331	chr14:65635000-65635001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576084005	chr14:65635070-65635071	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs57581750	chr14:65635090-65635091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12886660	chr14:65635095-65635096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs112795837	chr14:65635128-65635129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148429188	chr14:65635159-65635160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141658862	chr14:65635182-65635183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560074889	chr14:65635249-65635250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374146833	chr14:65635297-65635298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368399074	chr14:65635318-65635319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560078078	chr14:65635336-65635337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs17102450	chr14:65635342-65635343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs531748636	chr14:65635354-65635355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542506835	chr14:65635378-65635379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112413638	chr14:65635440-65635441	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573093520	chr14:65635490-65635491	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs150539179	chr14:65635492-65635493	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs569042680	chr14:65635494-65635495	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547701192	chr14:65635513-65635514	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190089937	chr14:65635582-65635583	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs4899166	chr14:65635663-65635664	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556228918	chr14:65635683-65635684	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181434267	chr14:65635694-65635695	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538376403	chr14:65635721-65635722	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs558284522	chr14:65635749-65635750	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12887819	chr14:65635751-65635752	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs12889075	chr14:65635755-65635756	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs79494237	chr14:65635779-65635780	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34936049	chr14:65635795-65635796	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs185525879	chr14:65635812-65635813	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189940618	chr14:65635853-65635854	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531805527	chr14:65635871-65635872	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549072833	chr14:65635877-65635878	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566865950	chr14:65635937-65635938	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs565415392	chr14:65635950-65635951	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs8017456	chr14:65635981-65635982	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs182209959	chr14:65635993-65635994	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567549969	chr14:65636041-65636042	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77780150	chr14:65636050-65636051	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	17440070	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65624000-65637000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:65624000-65637200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:65625400-65637200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:65626000-65637200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:65626400-65637200	Weak transcription	Esophagus	oesophagus
6	chr14:65627200-65637000	Weak transcription	Primary B cells from cord blood	blood
7	chr14:65631600-65635000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:65631600-65635000	Weak transcription	Brain Substantia Nigra	brain
9	chr14:65631600-65635600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:65631800-65637200	Weak transcription	Fetal Intestine Large	intestine
11	chr14:65631800-65637200	Weak transcription	Fetal Intestine Small	intestine
12	chr14:65632000-65636000	Weak transcription	HepG2	liver
13	chr14:65632800-65635600	Enhancers	GM12878-XiMat	blood
14	chr14:65633000-65636000	Enhancers	Brain Hippocampus Middle	brain
15	chr14:65633800-65636000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:65633800-65637600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:65633800-65637600	Weak transcription	Spleen	Spleen
18	chr14:65634000-65635600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:65634200-65635000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:65634200-65637000	Weak transcription	Stomach Mucosa	stomach
21	chr14:65634600-65635600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr14:65635000-65635400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:65635000-65635600	Enhancers	Brain Angular Gyrus	brain
24	chr14:65635000-65635600	Enhancers	Brain Anterior Caudate	brain
25	chr14:65635000-65635600	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:65635000-65635600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr14:65635000-65636400	Enhancers	Brain Substantia Nigra	brain
28	chr14:65635400-65635600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr14:65635400-65636000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr14:65635600-65635800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:65635600-65635800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:65635600-65635800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:65635600-65635800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:65635600-65635800	Enhancers	Duodenum Mucosa	Duodenum
35	chr14:65635600-65636000	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr14:65635600-65636000	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr14:65635600-65636000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr14:65635600-65636200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:65635600-65636400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:65635600-65636400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr14:65635600-65636400	Enhancers	Adipose Nuclei	Adipose
42	chr14:65635600-65636400	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr14:65635600-65636400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr14:65635600-65636400	Flanking Active TSS	GM12878-XiMat	blood
45	chr14:65635600-65636600	Enhancers	HSMM	muscle
46	chr14:65635600-65637200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr14:65635600-65637200	Enhancers	Primary B cells from peripheral blood	blood
48	chr14:65635600-65637200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:65635600-65637200	Enhancers	NH-A	brain
50	chr14:65635600-65637200	Enhancers	NHDF-Ad	bronchial

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