Variant report

Variant	esv3414868
Chromosome Location	chr14:70114309-70114743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70049075..70051914-chr14:70112777..70114742,2	K562	blood:
2	chr14:70075910..70078866-chr14:70112750..70114338,2	MCF-7	breast:
3	chr14:70049658..70051914-chr14:70113200..70114742,2	K562	blood:
4	chr14:70107632..70111411-chr14:70113640..70118051,5	MCF-7	breast:
5	chr14:70114480..70116769-chr14:70178429..70180282,2	MCF-7	breast:
6	chr14:70108653..70111894-chr14:70113537..70117255,5	K562	blood:
7	chr14:70113887..70117052-chr14:70117331..70121263,5	K562	blood:

Variant related genes	Relation type
ENSG00000100647	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138425291	chr14:70114312-70114313	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550605654	chr14:70114315-70114316	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568871554	chr14:70114324-70114325	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536214756	chr14:70114362-70114363	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199645810	chr14:70114367-70114368	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74247320	chr14:70114370-70114371	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566506099	chr14:70114386-70114387	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1763223	chr14:70114396-70114397	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs559339014	chr14:70114444-70114445	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs577466642	chr14:70114481-70114482	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs372867343	chr14:70114518-70114519	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs149277841	chr14:70114570-70114571	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556584831	chr14:70114578-70114579	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs574146478	chr14:70114608-70114609	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs574859523	chr14:70114630-70114631	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs542338939	chr14:70114644-70114645	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs57153309	chr14:70114659-70114660	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs35634400	chr14:70114674-70114675	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs572148663	chr14:70114680-70114681	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540135825	chr14:70114707-70114708	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs541559127	chr14:70114726-70114727	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs10138453	chr14:70114738-70114739	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

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
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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:70105200-70115400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:70105600-70115600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:70105800-70114600	Weak transcription	Placenta	Placenta
5	chr14:70105800-70115600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:70106600-70115000	Weak transcription	Fetal Kidney	kidney
7	chr14:70108400-70121200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:70109000-70114600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:70109000-70121400	Enhancers	Stomach Mucosa	stomach
10	chr14:70109400-70115400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:70109400-70121200	Enhancers	Small Intestine	intestine
12	chr14:70109600-70121200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr14:70109800-70115200	Weak transcription	Fetal Thymus	thymus
14	chr14:70109800-70125400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:70110000-70115200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:70110000-70122800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:70110200-70121400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr14:70110400-70114800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:70110400-70115200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr14:70110400-70115200	Weak transcription	Thymus	Thymus
21	chr14:70110400-70115400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:70110400-70116000	Weak transcription	Esophagus	oesophagus
23	chr14:70110400-70121400	Enhancers	Primary B cells from peripheral blood	blood
24	chr14:70110400-70124600	Weak transcription	Fetal Brain Female	brain
25	chr14:70110600-70115000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:70110600-70115000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:70110600-70115400	Weak transcription	Aorta	Aorta
28	chr14:70110800-70115000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr14:70111200-70115000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:70112000-70114400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:70112000-70114400	Weak transcription	Spleen	Spleen
32	chr14:70112000-70115200	Weak transcription	NHEK	skin
33	chr14:70112200-70114400	Weak transcription	Right Atrium	heart
34	chr14:70112200-70115000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:70112200-70115000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:70112200-70115200	Weak transcription	HMEC	breast
37	chr14:70112400-70114800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:70112400-70115000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr14:70112400-70117000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr14:70112600-70123600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr14:70112800-70115200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr14:70113000-70115000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:70113200-70114400	Genic enhancers	GM12878-XiMat	blood
44	chr14:70113400-70114400	Weak transcription	Primary B cells from cord blood	blood
45	chr14:70113600-70115000	Enhancers	Liver	Liver
46	chr14:70113600-70115200	Enhancers	Colon Smooth Muscle	Colon
47	chr14:70113600-70120600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr14:70113600-70121200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:70113800-70114400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:70113800-70114400	Enhancers	HSMM	muscle

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