Variant report

Variant	nsv564793
Chromosome Location	chr14:47732038-47756470
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:4)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:47729955..47732269-chr14:47732563..47734465,2	MCF-7	breast:
2	chr14:47729955..47732269-chr14:47732563..47734465,2	MCF-7	breast:
3	chr14:47525262..47526210-chr14:47747163..47747902,2	MCF-7	breast:
4	chr14:47749473..47749973-chr5:68319722..68320581,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-12	chr14:47743855-47743971	l_979_chr14:47733075-47748994_testes
2	lnc-FANCM-12	chr14:47751190-47751359	l_979_chr14:47733075-47748994_testes
3	lnc-FANCM-12	chr14:47748394-47748994	l_979_chr14:47733075-47748994_testes
4	lnc-FANCM-12	chr14:47747104-47747220	l_979_chr14:47733075-47748994_testes
5	lnc-FANCM-12	chr14:47752540-47752618	l_979_chr14:47733075-47748994_testes
6	lnc-FANCM-12	chr14:47733076-47733185	l_979_chr14:47733075-47748994_testes

No data

Extended variants
information (count: 643 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:643 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1958099	chr14:47732038-47732039	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537334564	chr14:47732057-47732058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557341186	chr14:47732119-47732120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372064500	chr14:47732134-47732135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574065054	chr14:47732137-47732138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542620076	chr14:47732194-47732195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10484188	chr14:47732229-47732230	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573207066	chr14:47732242-47732243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560356076	chr14:47732245-47732246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376250688	chr14:47732249-47732250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545493323	chr14:47732257-47732258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565128082	chr14:47732261-47732262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183325400	chr14:47732279-47732280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17118256	chr14:47732283-47732284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550839283	chr14:47732337-47732338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs17118260	chr14:47732338-47732339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187966359	chr14:47732357-47732358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548674636	chr14:47732377-47732378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565674770	chr14:47732390-47732391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200228032	chr14:47732405-47732406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528135543	chr14:47732426-47732427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112142885	chr14:47732452-47732453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182588407	chr14:47732493-47732494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532383380	chr14:47732502-47732503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75458965	chr14:47732508-47732509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537273161	chr14:47732525-47732526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188102509	chr14:47732530-47732531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567535614	chr14:47732536-47732537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536548973	chr14:47732540-47732541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553049985	chr14:47732609-47732610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367827355	chr14:47732616-47732617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530811703	chr14:47732633-47732634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545168135	chr14:47732641-47732642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558653429	chr14:47732687-47732688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192682403	chr14:47732693-47732694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10484187	chr14:47732711-47732712	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184155924	chr14:47732724-47732725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373822944	chr14:47732820-47732821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111724835	chr14:47732822-47732823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530285012	chr14:47732841-47732842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72680264	chr14:47732885-47732886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559078775	chr14:47732923-47732924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533491906	chr14:47732958-47732959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528138350	chr14:47733099-47733100	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs551481593	chr14:47733181-47733182	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs560871521	chr14:47734014-47734015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115532955	chr14:47734100-47734101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115426440	chr14:47734127-47734128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527511357	chr14:47734131-47734132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564873392	chr14:47734158-47734159	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastric cancer	18160780	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47731000-47732200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:47731000-47732600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:47731800-47733000	Enhancers	NHEK	skin
4	chr14:47732200-47732600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:47732600-47733000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:47734000-47734400	Enhancers	Liver	Liver
7	chr14:47737200-47739400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:47738800-47739000	Enhancers	Colon Smooth Muscle	Colon
9	chr14:47739000-47739200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:47739000-47739800	Active TSS	Colon Smooth Muscle	Colon
11	chr14:47739000-47740200	Active TSS	Stomach Smooth Muscle	stomach
12	chr14:47739200-47739400	Enhancers	Gastric	stomach
13	chr14:47739200-47739600	Active TSS	Brain Anterior Caudate	brain
14	chr14:47739200-47739600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr14:47739200-47739600	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr14:47739200-47739800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:47739400-47741800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:47739600-47739800	Active TSS	Rectal Smooth Muscle	rectum
19	chr14:47739800-47740400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:47740000-47740200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr14:47740200-47740800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:47741800-47746400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:47745000-47745200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:47746000-47747200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:47746000-47747600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr14:47746200-47746800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr14:47746200-47747200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:47746200-47747200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr14:47746200-47747400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:47746200-47747600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:47746400-47747000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:47746400-47747000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:47746400-47747400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:47746800-47747400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:47747400-47752000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:47752000-47752400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:47755600-47755800	Enhancers	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links