Variant report

Variant	esv3434263
Chromosome Location	chr14:66537749-66539647
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:66427325..66428411-chr14:66537144..66538123,6	MCF-7	breast:
2	chr14:66425926..66426823-chr14:66537370..66538030,2	MCF-7	breast:
3	chr14:66281943..66282566-chr14:66537249..66538129,3	MCF-7	breast:
4	chr14:66414502..66416771-chr14:66536392..66538001,2	MCF-7	breast:
5	chr14:66425922..66427142-chr14:66536724..66537891,6	MCF-7	breast:
6	chr14:66538173..66539744-chr14:66540903..66543785,2	MCF-7	breast:
7	chr14:66427400..66429193-chr14:66535777..66538129,25	MCF-7	breast:
8	chr14:66428978..66429819-chr14:66537577..66538194,2	K562	blood:

No data

Extended variants
information (count: 63 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72718467	chr14:66537761-66537762	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145247709	chr14:66537800-66537801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181708435	chr14:66537816-66537817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373763907	chr14:66537842-66537843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575237534	chr14:66537868-66537869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543636992	chr14:66537871-66537872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144947790	chr14:66537891-66537892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532494919	chr14:66537956-66537957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370128970	chr14:66537979-66537980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138761614	chr14:66537996-66537997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543317922	chr14:66538107-66538108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73280041	chr14:66538132-66538133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112150857	chr14:66538219-66538220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184905099	chr14:66538248-66538249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530874958	chr14:66538356-66538357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528903355	chr14:66538380-66538381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550500320	chr14:66538455-66538456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188631753	chr14:66538482-66538483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371389035	chr14:66538501-66538502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576973764	chr14:66538526-66538527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138943122	chr14:66538533-66538534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35926995	chr14:66538536-66538537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199831897	chr14:66538547-66538548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112829519	chr14:66538554-66538555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548187350	chr14:66538560-66538561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553907677	chr14:66538584-66538585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370470220	chr14:66538623-66538624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368005584	chr14:66538661-66538662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145469993	chr14:66538778-66538779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78293636	chr14:66538781-66538782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59111755	chr14:66538787-66538788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555434761	chr14:66538791-66538792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59091919	chr14:66538806-66538807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10134620	chr14:66538808-66538809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs544140798	chr14:66538809-66538810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180899801	chr14:66538822-66538823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569849021	chr14:66538824-66538825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577376903	chr14:66538837-66538838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75728874	chr14:66538847-66538848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536907557	chr14:66538910-66538911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367868471	chr14:66538922-66538923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559443054	chr14:66539019-66539020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549260161	chr14:66539063-66539064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528590749	chr14:66539069-66539070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6573645	chr14:66539115-66539116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs148043280	chr14:66539118-66539119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530671446	chr14:66539162-66539163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550862438	chr14:66539168-66539169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185157410	chr14:66539197-66539198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115620267	chr14:66539212-66539213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	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
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	17440070	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66534800-66543400	Weak transcription	Fetal Brain Female	brain
2	chr14:66536000-66547000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:66536200-66541400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:66537400-66537800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr14:66537400-66537800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:66537400-66537800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr14:66537400-66541000	Weak transcription	Brain Germinal Matrix	brain
8	chr14:66537600-66537800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:66537600-66543000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:66537800-66542200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links