Variant report

Variant	nsv902109
Chromosome Location	chr14:78603877-78634174
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:78607964..78608565-chr14:79064063..79064660,2	MCF-7	breast:
2	chr14:78630320..78630924-chr14:79163432..79164245,2	MCF-7	breast:
3	chr14:78630303..78630829-chr14:79062175..79062814,2	MCF-7	breast:
4	chr14:78488090..78488730-chr14:78630706..78631207,2	MCF-7	breast:
5	chr14:78630297..78631161-chr14:79032243..79033558,5	MCF-7	breast:
6	chr14:78618637..78620285-chr14:78622605..78625562,2	K562	blood:
7	chr14:78614052..78615678-chr14:78620676..78623543,2	K562	blood:
8	chr14:78614052..78615678-chr14:78620676..78623543,2	K562	blood:
9	chr14:78634011..78634749-chr14:79064036..79064558,2	MCF-7	breast:
10	chr14:78616020..78618185-chr14:78621150..78622748,2	K562	blood:
11	chr14:78488074..78488806-chr14:78619122..78619815,2	MCF-7	breast:
12	chr14:78607670..78608593-chr14:79032573..79033556,3	MCF-7	breast:
13	chr14:78616020..78618185-chr14:78621150..78622748,2	K562	blood:
14	chr14:78629719..78632310-chr14:78635472..78637600,2	K562	blood:
15	chr14:78618637..78620285-chr14:78622605..78625562,2	K562	blood:

No data

Extended variants
information (count: 993 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:993 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8022610	chr14:78603877-78603878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139185597	chr14:78603909-78603910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575362978	chr14:78603929-78603930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56026104	chr14:78603945-78603946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536094129	chr14:78603993-78603994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560353851	chr14:78604002-78604003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79081237	chr14:78604018-78604019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527465001	chr14:78604037-78604038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181489815	chr14:78604065-78604066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572507420	chr14:78604114-78604115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535237103	chr14:78604153-78604154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35650011	chr14:78604167-78604168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557857353	chr14:78604168-78604169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577841174	chr14:78604176-78604177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs8007460	chr14:78604242-78604243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs563312923	chr14:78604273-78604274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573874780	chr14:78604274-78604275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35894228	chr14:78604286-78604287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs17754364	chr14:78604287-78604288	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs35870109	chr14:78604298-78604299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559605227	chr14:78604310-78604311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571099415	chr14:78604336-78604337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7145998	chr14:78604366-78604367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11621839	chr14:78604382-78604383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs564227856	chr14:78604486-78604487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34821845	chr14:78604514-78604515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs72627187	chr14:78604526-78604527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186607789	chr14:78604527-78604528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148028048	chr14:78604535-78604536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191145730	chr14:78604583-78604584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4903708	chr14:78604610-78604611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566383794	chr14:78604666-78604667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534883139	chr14:78604697-78604698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147200530	chr14:78604724-78604725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181086481	chr14:78604756-78604757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560757877	chr14:78604775-78604776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77500488	chr14:78604798-78604799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61978108	chr14:78604831-78604832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573515658	chr14:78604836-78604837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542621568	chr14:78604886-78604887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4903709	chr14:78604887-78604888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs573127895	chr14:78604929-78604930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544796718	chr14:78604969-78604970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142912901	chr14:78604987-78604988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534105560	chr14:78605036-78605037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530622987	chr14:78605070-78605071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34112755	chr14:78605107-78605108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116072614	chr14:78605117-78605118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10145980	chr14:78605124-78605125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150710789	chr14:78605129-78605130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78598600-78613000	Weak transcription	Brain Substantia Nigra	brain
2	chr14:78603000-78604600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:78606000-78606200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:78606200-78609200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:78607000-78609400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:78607400-78607600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:78608000-78610000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:78609200-78610200	Enhancers	K562	blood
9	chr14:78609200-78610400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:78609400-78610600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:78609400-78610600	Enhancers	NH-A	brain
12	chr14:78609400-78611000	Enhancers	NHEK	skin
13	chr14:78609600-78610600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:78610000-78610800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:78610000-78611000	Enhancers	A549	lung
16	chr14:78616400-78617000	Enhancers	Lung	lung
17	chr14:78616800-78617000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr14:78617000-78618200	Weak transcription	Lung	lung
19	chr14:78617000-78618800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr14:78617200-78619800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:78617400-78619800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:78617600-78620000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr14:78618200-78618400	Enhancers	Lung	lung
24	chr14:78618200-78618400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr14:78618200-78619400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr14:78618200-78619400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:78618200-78619400	Enhancers	NHEK	skin
28	chr14:78618400-78618800	Weak transcription	Lung	lung
29	chr14:78618400-78619200	Enhancers	Brain Cingulate Gyrus	brain
30	chr14:78618400-78619400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr14:78618400-78619600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:78618600-78619200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:78618800-78619200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr14:78618800-78619200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:78618800-78619200	Enhancers	Brain Hippocampus Middle	brain
36	chr14:78618800-78619400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:78618800-78619400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:78618800-78619400	Enhancers	Primary hematopoietic stem cells	blood
39	chr14:78618800-78619400	Enhancers	Lung	lung
40	chr14:78618800-78619600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr14:78618800-78619800	Enhancers	Spleen	Spleen
42	chr14:78619000-78619600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:78619000-78619600	Enhancers	NH-A	brain
44	chr14:78619000-78619800	Enhancers	A549	lung
45	chr14:78619200-78619800	Enhancers	Brain Germinal Matrix	brain
46	chr14:78619200-78621000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:78619200-78623800	Weak transcription	Brain Hippocampus Middle	brain
48	chr14:78619400-78622200	Weak transcription	NHEK	skin
49	chr14:78619400-78622400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:78619600-78622200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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