Variant report

Variant	esv1815313
Chromosome Location	chr14:65735281-65742616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:65735352-65735614	HepG2	liver:	n/a	n/a
2	CTCF	chr14:65736820-65736970	GM12868	blood:	n/a	n/a
3	FOXA2	chr14:65735397-65735575	HepG2	liver:	n/a	n/a
4	GATA3	chr14:65736338-65736934	MCF-7	breast:	n/a	n/a
5	MYC	chr14:65735440-65735680	NB4	blood:	n/a	n/a
6	NR2F2	chr14:65736377-65736963	MCF-7	breast:	n/a	chr14:65736793-65736808
7	SPI1	chr14:65741817-65742159	GM12891	blood:	n/a	n/a
8	SPI1	chr14:65741880-65742093	GM12891	blood:	n/a	n/a
9	SPI1	chr14:65741861-65742068	GM12878	blood:	n/a	n/a
10	STAT3	chr14:65736010-65736171	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65692548..65695388-chr14:65738784..65741190,2	MCF-7	breast:
2	chr14:65741854..65743522-chr14:65876408..65879302,2	MCF-7	breast:
3	chr14:65687978..65690881-chr14:65733392..65735746,2	MCF-7	breast:
4	chr14:65737240..65740930-chr14:65741747..65745215,4	MCF-7	breast:
5	chr14:65736547..65739578-chr14:65875184..65878257,3	MCF-7	breast:
6	chr14:65736947..65738937-chr14:65877471..65879576,2	MCF-7	breast:
7	chr14:65737240..65740930-chr14:65741747..65745215,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-3	chr14:65736163-65736230	ENSG00000258760.1
2	lnc-FUT8-5	chr14:65735547-65735816	NONHSAT037381

No data

Variant related genes	Relation type
ENSG00000214759	TF binding region
PTBP1P	TF binding region
RPL21P7	TF binding region
ENSG00000033170	chromatin interactions
ENSG00000255002	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550630219	chr14:65735313-65735314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529999548	chr14:65735342-65735343	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1256515	chr14:65735357-65735358	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs570134951	chr14:65735376-65735377	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs539111754	chr14:65735430-65735431	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs77668270	chr14:65735432-65735433	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs2151756	chr14:65735437-65735438	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565870716	chr14:65735493-65735494	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs534865551	chr14:65735494-65735495	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs554520886	chr14:65735498-65735499	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs137877719	chr14:65735503-65735504	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs543018458	chr14:65735507-65735508	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs367883036	chr14:65735524-65735525	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs1256516	chr14:65735539-65735540	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576459289	chr14:65735568-65735569	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs539058904	chr14:65735610-65735611	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs78888170	chr14:65735625-65735626	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs1256517	chr14:65735684-65735685	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs541619654	chr14:65735754-65735755	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs199884789	chr14:65735783-65735784	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs372690938	chr14:65735799-65735800	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs561386520	chr14:65735804-65735805	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs34941420	chr14:65735811-65735812	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs79607886	chr14:65735823-65735824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202039432	chr14:65735825-65735826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530443053	chr14:65735834-65735835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550521360	chr14:65735839-65735840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374143102	chr14:65735869-65735870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141644999	chr14:65735900-65735901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1256518	chr14:65735932-65735933	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562568316	chr14:65735970-65735971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192618785	chr14:65735987-65735988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367680037	chr14:65736034-65736035	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs534478037	chr14:65736052-65736053	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs542117468	chr14:65736078-65736079	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs183948274	chr14:65736088-65736089	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs187583825	chr14:65736089-65736090	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs78924904	chr14:65736118-65736119	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs150479225	chr14:65736156-65736157	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs192118278	chr14:65736163-65736164	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs1038237	chr14:65736178-65736179	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1038238	chr14:65736182-65736183	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373198928	chr14:65736237-65736238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541246529	chr14:65736259-65736260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561507030	chr14:65736269-65736270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531167033	chr14:65736299-65736300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1256519	chr14:65736324-65736325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs115141331	chr14:65736348-65736349	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs371675354	chr14:65736352-65736353	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs563974531	chr14:65736375-65736376	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65714000-65735400	Weak transcription	Primary B cells from cord blood	blood
3	chr14:65727400-65749600	Weak transcription	Gastric	stomach
4	chr14:65731400-65735400	Weak transcription	GM12878-XiMat	blood
5	chr14:65733800-65742000	Weak transcription	Brain Substantia Nigra	brain
6	chr14:65733800-65742200	Weak transcription	Brain Anterior Caudate	brain
7	chr14:65734200-65738600	Enhancers	Stomach Mucosa	stomach
8	chr14:65734400-65736600	Enhancers	Pancreas	Pancrea
9	chr14:65734600-65735400	Enhancers	K562	blood
10	chr14:65734600-65735800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr14:65734600-65736800	Enhancers	HepG2	liver
12	chr14:65734800-65735600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr14:65735000-65735800	Weak transcription	Small Intestine	intestine
14	chr14:65735000-65736200	Enhancers	Primary B cells from peripheral blood	blood
15	chr14:65735000-65736400	Weak transcription	Fetal Intestine Small	intestine
16	chr14:65735000-65736600	Enhancers	Primary T cells from cord blood	blood
17	chr14:65735000-65736800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr14:65735000-65742400	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:65735200-65735800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr14:65735200-65735800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr14:65735400-65735800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:65735400-65735800	Enhancers	GM12878-XiMat	blood
23	chr14:65735400-65736000	Enhancers	Primary B cells from cord blood	blood
24	chr14:65735400-65736000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:65735400-65736600	Enhancers	Fetal Thymus	thymus
26	chr14:65735400-65737000	Enhancers	Duodenum Mucosa	Duodenum
27	chr14:65735800-65736600	Enhancers	Small Intestine	intestine
28	chr14:65735800-65748600	Weak transcription	GM12878-XiMat	blood
29	chr14:65736200-65748400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr14:65736400-65736600	Enhancers	Fetal Intestine Small	intestine
31	chr14:65736600-65736800	Weak transcription	Fetal Intestine Small	intestine
32	chr14:65736600-65737400	Weak transcription	Small Intestine	intestine
33	chr14:65736600-65738200	Weak transcription	Primary T cells from cord blood	blood
34	chr14:65737000-65743800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:65738200-65738400	Enhancers	Primary T cells from cord blood	blood
36	chr14:65738600-65744200	Weak transcription	Stomach Mucosa	stomach
37	chr14:65739600-65739800	Enhancers	Thymus	Thymus
38	chr14:65740800-65744200	Enhancers	Brain Cingulate Gyrus	brain
39	chr14:65741000-65741600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:65741600-65746800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:65741800-65742400	Enhancers	Brain Angular Gyrus	brain
42	chr14:65742000-65745400	Enhancers	Brain Substantia Nigra	brain
43	chr14:65742200-65742400	Enhancers	Brain Anterior Caudate	brain
44	chr14:65742400-65743200	Weak transcription	Brain Anterior Caudate	brain
45	chr14:65742400-65743400	Weak transcription	Brain Angular Gyrus	brain
46	chr14:65742400-65747000	Enhancers	Brain Hippocampus Middle	brain

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