Variant report

Variant	nsv817638
Chromosome Location	chr14:70489680-70500973
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70286691..70287321-chr14:70494272..70494975,2	MCF-7	breast:
2	chr14:70482647..70484897-chr14:70494365..70496259,2	MCF-7	breast:
3	chr14:70489634..70491460-chr14:70492920..70494624,2	MCF-7	breast:
4	chr14:70314565..70316766-chr14:70494055..70496568,2	MCF-7	breast:
5	chr14:70329512..70332305-chr14:70492102..70494618,2	MCF-7	breast:
6	chr14:70284942..70286124-chr14:70494176..70496165,29	MCF-7	breast:
7	chr14:70496489..70498321-chr14:70503496..70506158,2	MCF-7	breast:
8	chr14:70489634..70491460-chr14:70492920..70494624,2	MCF-7	breast:
9	chr14:70492362..70495132-chr14:70501110..70503628,2	K562	blood:
10	chr14:70284087..70286942-chr14:70495674..70497567,4	MCF-7	breast:
11	chr14:70197681..70198585-chr14:70494474..70495292,3	MCF-7	breast:
12	chr14:70487128..70490716-chr14:70493782..70497437,5	MCF-7	breast:
13	chr14:70495096..70497706-chr14:70500490..70502321,2	MCF-7	breast:
14	chr14:70285591..70287548-chr14:70492500..70494063,2	K562	blood:
15	chr14:70494747..70496910-chr14:70498282..70501125,2	MCF-7	breast:
16	chr14:70284835..70286537-chr14:70493931..70495236,17	MCF-7	breast:
17	chr14:70479979..70480909-chr14:70494262..70494803,2	MCF-7	breast:
18	chr14:70487128..70490716-chr14:70493782..70497437,5	MCF-7	breast:
19	chr14:70495096..70497706-chr14:70500490..70502321,2	MCF-7	breast:
20	chr14:70278462..70280862-chr14:70497209..70499902,2	MCF-7	breast:
21	chr14:70232945..70234905-chr14:70499269..70501298,2	MCF-7	breast:
22	chr14:70343652..70344929-chr14:70494172..70494990,6	MCF-7	breast:
23	chr14:70284953..70286076-chr14:70493863..70495399,6	K562	blood:
24	chr14:70497570..70499518-chr14:70502839..70505709,2	MCF-7	breast:
25	chr14:70233736..70235237-chr14:70494701..70496831,2	MCF-7	breast:
26	chr14:70343964..70344902-chr14:70495472..70496137,2	MCF-7	breast:
27	chr14:70359306..70362202-chr14:70488294..70490499,2	MCF-7	breast:
28	chr14:70284132..70286001-chr14:70493432..70495092,2	MCF-7	breast:
29	chr14:70480962..70481548-chr14:70494329..70495228,2	K562	blood:
30	chr14:70343101..70344065-chr14:70494201..70495179,2	MCF-7	breast:
31	chr14:70494747..70496910-chr14:70498282..70501125,2	MCF-7	breast:
32	chr14:70498095..70500229-chr14:70502609..70504593,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100650	chromatin interactions

Extended variants
information (count: 469 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs227405	chr14:70489680-70489681	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138413631	chr14:70489754-70489755	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536248376	chr14:70489761-70489762	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17764895	chr14:70489775-70489776	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113351103	chr14:70489780-70489781	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534947972	chr14:70489831-70489832	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189980507	chr14:70489859-70489860	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143029768	chr14:70489893-70489894	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375597801	chr14:70489910-70489911	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146934835	chr14:70489920-70489921	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144398452	chr14:70489935-70489936	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140885357	chr14:70489957-70489958	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367850441	chr14:70489979-70489980	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575371612	chr14:70489997-70489998	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150129854	chr14:70490017-70490018	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542274320	chr14:70490028-70490029	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370605208	chr14:70490029-70490030	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11846426	chr14:70490034-70490035	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371234626	chr14:70490043-70490044	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528051707	chr14:70490044-70490045	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540955819	chr14:70490065-70490066	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565430425	chr14:70490079-70490080	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376161958	chr14:70490088-70490089	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532611778	chr14:70490112-70490113	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367565359	chr14:70490115-70490116	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147977932	chr14:70490121-70490122	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556401139	chr14:70490167-70490168	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569017043	chr14:70490177-70490178	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371740754	chr14:70490179-70490180	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559918266	chr14:70490195-70490196	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373775929	chr14:70490198-70490199	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548373759	chr14:70490207-70490208	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371020028	chr14:70490215-70490216	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141645627	chr14:70490222-70490223	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533933317	chr14:70490233-70490234	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546920299	chr14:70490260-70490261	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2281663	chr14:70490264-70490265	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs538847724	chr14:70490272-70490273	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150536037	chr14:70490275-70490276	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182097497	chr14:70490321-70490322	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368212190	chr14:70490324-70490325	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187140974	chr14:70490340-70490341	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190507146	chr14:70490368-70490369	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61977406	chr14:70490372-70490373	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181959506	chr14:70490423-70490424	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117684045	chr14:70490431-70490432	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140443422	chr14:70490434-70490435	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544415461	chr14:70490459-70490460	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562771434	chr14:70490472-70490473	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530218992	chr14:70490500-70490501	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70476000-70500000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:70476200-70490600	Weak transcription	Fetal Brain Male	brain
3	chr14:70476200-70499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:70485000-70493200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:70485600-70491600	Weak transcription	Fetal Brain Female	brain
6	chr14:70485800-70493000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:70485800-70495600	Weak transcription	Right Atrium	heart
8	chr14:70485800-70497600	Strong transcription	Hela-S3	cervix
9	chr14:70485800-70498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:70486000-70496200	Weak transcription	Pancreas	Pancrea
11	chr14:70486000-70500400	Weak transcription	Aorta	Aorta
12	chr14:70486400-70490000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr14:70486400-70491600	Weak transcription	Spleen	Spleen
14	chr14:70486400-70491800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:70486400-70502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:70486600-70498200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:70487000-70494400	Strong transcription	Liver	Liver
18	chr14:70487800-70491800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:70487800-70494200	Weak transcription	Fetal Stomach	stomach
20	chr14:70487800-70498400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:70488000-70498600	Weak transcription	Gastric	stomach
22	chr14:70488200-70491000	Strong transcription	Brain Germinal Matrix	brain
23	chr14:70488200-70493800	Strong transcription	HepG2	liver
24	chr14:70488200-70494200	Weak transcription	Brain Substantia Nigra	brain
25	chr14:70488200-70494400	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:70488400-70492400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:70488600-70490200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:70488800-70493200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:70489000-70490000	Enhancers	HMEC	breast
30	chr14:70489000-70490600	Strong transcription	NHEK	skin
31	chr14:70489000-70499200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:70489400-70489800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:70489400-70491000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:70489600-70490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:70489600-70490200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:70490000-70491400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:70490000-70493400	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:70490200-70490600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:70490200-70499200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:70490600-70490800	ZNF genes & repeats	Fetal Brain Male	brain
41	chr14:70490600-70495000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:70490600-70498600	Weak transcription	NHEK	skin
43	chr14:70491000-70491600	Weak transcription	Brain Germinal Matrix	brain
44	chr14:70491000-70493000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:70491400-70498600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:70491600-70492200	Strong transcription	Brain Germinal Matrix	brain
47	chr14:70491600-70492400	Strong transcription	Fetal Brain Female	brain
48	chr14:70491600-70494200	Strong transcription	Spleen	Spleen
49	chr14:70491800-70492800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:70492200-70499400	Weak transcription	Brain Germinal Matrix	brain

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