Variant report

Variant	nsv983835
Chromosome Location	chr14:65732460-65735370
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	BHLHE40	chr14:65734705-65734835	K562	blood:	n/a	n/a
2	CEBPB	chr14:65734642-65734922	K562	blood:	n/a	n/a
3	CEBPB	chr14:65735352-65735614	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:65734678-65734975	K562	blood:	n/a	n/a
5	CTCF	chr14:65733584-65733653	LNCaP	prostate:	n/a	n/a
6	EP300	chr14:65734671-65734886	K562	blood:	n/a	n/a
7	FOXA1	chr14:65733483-65733719	T-47D	breast:	n/a	n/a
8	GATA1	chr14:65734548-65735050	PBDE	blood:	n/a	chr14:65734749-65734758 chr14:65734613-65734623 chr14:65734556-65734565 chr14:65734608-65734629
9	GATA2	chr14:65734656-65734921	K562	blood:	n/a	chr14:65734749-65734758
10	GATA3	chr14:65733481-65733724	T-47D	breast:	n/a	n/a
11	POLR2A	chr14:65734693-65734849	K562	blood:	n/a	n/a
12	TAL1	chr14:65734646-65734945	K562	blood:	n/a	n/a
13	TEAD4	chr14:65734551-65734922	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65687978..65690881-chr14:65733392..65735746,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214759	TF binding region
RPL21P7	TF binding region
ENSG00000255002	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150109852	chr14:65732462-65732463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138765179	chr14:65732581-65732582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544281342	chr14:65732595-65732596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1256509	chr14:65732722-65732723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1270537	chr14:65732731-65732732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540010858	chr14:65732749-65732750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536417398	chr14:65732785-65732786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529111044	chr14:65732828-65732829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549250089	chr14:65732842-65732843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569105706	chr14:65732856-65732857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531290887	chr14:65732873-65732874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551408259	chr14:65732883-65732884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144880637	chr14:65732925-65732926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571331927	chr14:65732948-65732949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533899430	chr14:65732955-65732956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553940222	chr14:65732958-65732959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111452529	chr14:65732984-65732985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535719867	chr14:65733000-65733001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555978525	chr14:65733032-65733033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146918684	chr14:65733060-65733061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544558518	chr14:65733061-65733062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112170972	chr14:65733068-65733069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202158096	chr14:65733122-65733123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370204972	chr14:65733123-65733124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375126461	chr14:65733124-65733125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142711020	chr14:65733134-65733135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58748881	chr14:65733141-65733142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71126721	chr14:65733143-65733144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10138830	chr14:65733147-65733148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568324316	chr14:65733148-65733149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs67256320	chr14:65733159-65733160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398025431	chr14:65733161-65733162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10149673	chr14:65733172-65733173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200139313	chr14:65733181-65733182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200035017	chr14:65733189-65733190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186083665	chr14:65733190-65733191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540241371	chr14:65733205-65733206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540314467	chr14:65733218-65733219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569951274	chr14:65733223-65733224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149421731	chr14:65733321-65733322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189360827	chr14:65733329-65733330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61154399	chr14:65733333-65733334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200959382	chr14:65733334-65733335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565303167	chr14:65733339-65733340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397808860	chr14:65733347-65733348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1272725	chr14:65733355-65733356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550669164	chr14:65733365-65733366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562763398	chr14:65733439-65733440	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531526180	chr14:65733553-65733554	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs551369720	chr14:65733560-65733561	Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	18496225	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
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65714000-65735400	Weak transcription	Primary B cells from cord blood	blood
3	chr14:65727200-65735000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr14:65727400-65749600	Weak transcription	Gastric	stomach
5	chr14:65730200-65734400	Weak transcription	Pancreas	Pancrea
6	chr14:65730200-65734600	Weak transcription	HepG2	liver
7	chr14:65730400-65733400	Weak transcription	HMEC	breast
8	chr14:65730400-65734600	Weak transcription	K562	blood
9	chr14:65730600-65734600	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:65731000-65734600	Weak transcription	Fetal Intestine Small	intestine
11	chr14:65731400-65735400	Weak transcription	GM12878-XiMat	blood
12	chr14:65731800-65734200	Weak transcription	Stomach Mucosa	stomach
13	chr14:65733400-65733800	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr14:65733400-65733800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:65733400-65733800	Active TSS	Brain Anterior Caudate	brain
16	chr14:65733400-65733800	Active TSS	Brain Cingulate Gyrus	brain
17	chr14:65733400-65733800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:65733400-65733800	Active TSS	Brain Substantia Nigra	brain
19	chr14:65733400-65733800	Active TSS	HMEC	breast
20	chr14:65733800-65734600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:65733800-65735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:65733800-65742000	Weak transcription	Brain Substantia Nigra	brain
23	chr14:65733800-65742200	Weak transcription	Brain Anterior Caudate	brain
24	chr14:65734200-65738600	Enhancers	Stomach Mucosa	stomach
25	chr14:65734400-65735000	Enhancers	Small Intestine	intestine
26	chr14:65734400-65736600	Enhancers	Pancreas	Pancrea
27	chr14:65734600-65735000	Enhancers	Brain Cingulate Gyrus	brain
28	chr14:65734600-65735000	Enhancers	Brain Hippocampus Middle	brain
29	chr14:65734600-65735000	Enhancers	Fetal Intestine Small	intestine
30	chr14:65734600-65735400	Enhancers	K562	blood
31	chr14:65734600-65735800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr14:65734600-65736800	Enhancers	HepG2	liver
33	chr14:65734800-65735200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:65734800-65735600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:65735000-65735200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:65735000-65735800	Weak transcription	Small Intestine	intestine
37	chr14:65735000-65736200	Enhancers	Primary B cells from peripheral blood	blood
38	chr14:65735000-65736400	Weak transcription	Fetal Intestine Small	intestine
39	chr14:65735000-65736600	Enhancers	Primary T cells from cord blood	blood
40	chr14:65735000-65736800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr14:65735000-65742400	Weak transcription	Brain Hippocampus Middle	brain
42	chr14:65735200-65735800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr14:65735200-65735800	Enhancers	Primary T helper cells fromperipheralblood	blood

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