Variant report

Variant	nsv525761
Chromosome Location	chr14:71260091-71260307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71237542..71240325-chr14:71258119..71261097,3	MCF-7	breast:
2	chr14:71258916..71261246-chr14:71275354..71278057,3	MCF-7	breast:
3	chr14:71258809..71265000-chr14:71273870..71277389,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259153	chromatin interactions
ENSG00000006432	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10143031	chr14:71260091-71260092	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574701165	chr14:71260098-71260099	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs377031552	chr14:71260123-71260124	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs541971798	chr14:71260126-71260127	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560434942	chr14:71260142-71260143	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553216638	chr14:71260182-71260183	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs527942722	chr14:71260222-71260223	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs534650750	chr14:71260253-71260254	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200506297	chr14:71260254-71260255	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369845402	chr14:71260260-71260261	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545209318	chr14:71260264-71260265	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs369342545	chr14:71260272-71260273	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113948531	chr14:71260302-71260303	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs17108548	chr14:71260307-71260308	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:68)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	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
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Aortic dissecting aneurysms	22263138	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71220800-71266400	Weak transcription	Fetal Intestine Large	intestine
2	chr14:71222600-71274600	Weak transcription	Hela-S3	cervix
3	chr14:71223000-71266600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:71238600-71266600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:71239000-71269600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:71242400-71266600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:71242600-71266200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:71246800-71266800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:71247400-71266600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:71247800-71274600	Weak transcription	Stomach Mucosa	stomach
11	chr14:71248200-71271200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:71249000-71266400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:71249400-71266200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:71249400-71266600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:71249400-71266600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:71249400-71274400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:71249400-71274400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:71249400-71274600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:71249600-71274600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:71249800-71274600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr14:71250400-71266600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:71252000-71262800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:71252600-71268400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:71255800-71260600	Weak transcription	Fetal Stomach	stomach
25	chr14:71256400-71260400	Weak transcription	Ovary	ovary
26	chr14:71256400-71260600	Weak transcription	Psoas Muscle	Psoas
27	chr14:71256400-71260600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:71256600-71269600	Weak transcription	Brain Hippocampus Middle	brain
29	chr14:71257000-71260600	Weak transcription	Fetal Kidney	kidney
30	chr14:71257200-71274600	Weak transcription	Brain Anterior Caudate	brain
31	chr14:71257200-71274600	Weak transcription	Spleen	Spleen
32	chr14:71257600-71261200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:71257600-71261200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:71257600-71261400	Strong transcription	NHEK	skin
35	chr14:71257800-71261200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:71257800-71274800	Weak transcription	Colonic Mucosa	Colon
37	chr14:71258000-71260200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:71258000-71260200	Strong transcription	Gastric	stomach
39	chr14:71258000-71260800	Strong transcription	Fetal Intestine Small	intestine
40	chr14:71258000-71261200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:71258000-71261200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:71258000-71261400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:71258000-71261400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:71258000-71261400	Strong transcription	HMEC	breast
45	chr14:71258200-71261000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr14:71258200-71261000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:71258200-71261200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:71258200-71261200	Strong transcription	HepG2	liver
49	chr14:71258200-71267200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:71258400-71260600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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