Variant report

Variant	nsv517712
Chromosome Location	chr14:71061549-71061956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:71061425-71061608	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:71061692-71061721	ProgFib	skin:	n/a	n/a
3	POLR2A	chr14:71061619-71061623	A549	lung:	n/a	n/a
4	POLR2A	chr14:71061715-71061725	MCF-7	breast:	n/a	n/a
5	POLR2A	chr14:71061194-71062202	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:71061754-71061759	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:71061444-71061672	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr14:71061481-71061632	K562	blood:	n/a	n/a
9	POLR2A	chr14:71061920-71061923	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:71061729-71061794	MCF-7	breast:	n/a	n/a
11	POU2F2	chr14:71061222-71061633	GM12891	blood:	n/a	chr14:71061510-71061524

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71060891..71063654-chr14:71065972..71067588,2	MCF-7	breast:

Variant related genes	Relation type
MED6	TF binding region
ENSG00000133997	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7156661	chr14:71061549-71061550	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550756851	chr14:71061555-71061556	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184965027	chr14:71061567-71061568	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs148771586	chr14:71061584-71061585	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs188261491	chr14:71061585-71061586	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs142430018	chr14:71061609-71061610	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534250644	chr14:71061622-71061623	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs558519015	chr14:71061650-71061651	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576802925	chr14:71061730-71061731	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs60120955	chr14:71061733-71061734	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562394472	chr14:71061773-71061774	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs574605762	chr14:71061778-71061779	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs542011450	chr14:71061835-71061836	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs17113651	chr14:71061836-71061837	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7157685	chr14:71061844-71061845	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs111590154	chr14:71061862-71061863	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs56151422	chr14:71061863-71061864	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148618440	chr14:71061864-71061865	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs397780753	chr14:71061867-71061868	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs141273171	chr14:71061868-71061869	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs7158848	chr14:71061956-71061957	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	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
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	21364760	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
Epilepsy	20502679	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71029000-71066000	Weak transcription	Small Intestine	intestine
2	chr14:71042000-71066600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:71043600-71063400	Strong transcription	Primary B cells from cord blood	blood
4	chr14:71044400-71063600	Strong transcription	Primary T cells from cord blood	blood
5	chr14:71044600-71063400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:71045000-71063400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:71045000-71064200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:71045200-71063400	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:71045200-71063600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:71045200-71063800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:71045200-71064400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:71045400-71063000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:71045400-71063200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:71045400-71063400	Strong transcription	Brain Anterior Caudate	brain
15	chr14:71045400-71063600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:71045400-71063800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr14:71045400-71064600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr14:71045600-71063800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:71045600-71064600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:71045600-71064600	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr14:71045800-71063400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:71045800-71063400	Strong transcription	Fetal Thymus	thymus
23	chr14:71045800-71063600	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:71046200-71064400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:71046400-71063400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:71046400-71063400	Strong transcription	Placenta	Placenta
27	chr14:71046400-71064800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:71046600-71063400	Strong transcription	Liver	Liver
29	chr14:71046600-71063400	Strong transcription	Fetal Lung	lung
30	chr14:71046800-71061800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:71046800-71063200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr14:71046800-71063400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr14:71046800-71064600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:71047000-71063400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:71047000-71063400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:71047000-71063400	Strong transcription	Adipose Nuclei	Adipose
37	chr14:71047000-71063400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr14:71047000-71063400	Strong transcription	HSMM	muscle
39	chr14:71047000-71064000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:71047200-71063400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:71047200-71064600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr14:71047400-71063200	Strong transcription	Fetal Intestine Large	intestine
43	chr14:71047400-71063400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:71047400-71063400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:71047400-71063400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr14:71047400-71063400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr14:71047400-71063400	Strong transcription	Dnd41	blood
48	chr14:71047400-71063600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr14:71047400-71064600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:71047400-71064800	Strong transcription	Primary monocytes fromperipheralblood	blood

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