Variant report

Variant	nsv983764
Chromosome Location	chr14:21634219-21652582
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:3)
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	chr14:21650511..21651012-chr3:158378169..158378669,2	Hela-S3	cervix:
2	chr14:21641382..21643138-chr14:21651495..21654064,2	K562	blood:
3	chr14:21651029..21652913-chr14:21654690..21656270,2	K562	blood:
4	chr14:21649811..21651897-chr14:21658475..21660736,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf176-4	chr14:21634450-21634520	ucscGeneNc_uc001wda_1
2	lnc-C14orf176-4	chr14:21634603-21634734	ucscGeneNc_uc001wda_1
3	lnc-HNRNPC-2	chr14:21652500-21653118	NONHSAT035662

No data

Variant related genes	Relation type
ENSG00000258906	chromatin interactions
GFPT2	miRNA target sites

Extended variants
information (count: 561 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572214590	chr14:21634256-21634257	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75060001	chr14:21634271-21634272	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538148460	chr14:21634286-21634287	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554885335	chr14:21634291-21634292	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574803346	chr14:21634306-21634307	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73573854	chr14:21634325-21634326	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs202242466	chr14:21634345-21634346	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369516283	chr14:21634436-21634437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75846028	chr14:21634447-21634448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552031115	chr14:21634452-21634453	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs376678266	chr14:21634497-21634498	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs572833502	chr14:21634511-21634512	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs545113523	chr14:21634517-21634518	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs564928702	chr14:21634519-21634520	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs368509767	chr14:21634532-21634533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61447734	chr14:21634534-21634535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575446516	chr14:21634543-21634544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114433091	chr14:21634574-21634575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372768338	chr14:21634596-21634597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530039774	chr14:21634602-21634603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73573856	chr14:21634614-21634615	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554273406	chr14:21634702-21634703	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs181367369	chr14:21634725-21634726	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs113430844	chr14:21634761-21634762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535559265	chr14:21634763-21634764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538010850	chr14:21634765-21634766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12437196	chr14:21634786-21634787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568377320	chr14:21634799-21634800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111272175	chr14:21634814-21634815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552669788	chr14:21634831-21634832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572839367	chr14:21634941-21634942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544767720	chr14:21634959-21634960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138596573	chr14:21635008-21635009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73573860	chr14:21635024-21635025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185251272	chr14:21635113-21635114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561082782	chr14:21635118-21635119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113356521	chr14:21635149-21635150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540549205	chr14:21635158-21635159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560285042	chr14:21635164-21635165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12431847	chr14:21635181-21635182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191089009	chr14:21635202-21635203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181983191	chr14:21635255-21635256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187390168	chr14:21635256-21635257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548357436	chr14:21635258-21635259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191411879	chr14:21635260-21635261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142905773	chr14:21635262-21635263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534219860	chr14:21635264-21635265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554489197	chr14:21635352-21635353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571067147	chr14:21635382-21635383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373332715	chr14:21635383-21635384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
Schizophrenia	20967226	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Neuroblastoma	19536264	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21633400-21634400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:21634000-21634400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:21634400-21637400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:21636200-21636400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:21636400-21636600	Enhancers	HMEC	breast
6	chr14:21636600-21637000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:21636600-21637600	Weak transcription	HMEC	breast
8	chr14:21637000-21638400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:21637200-21637400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:21637400-21638200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:21637600-21638000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:21637600-21638200	Enhancers	HMEC	breast
13	chr14:21637800-21638600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:21638400-21638600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:21638600-21639000	Bivalent Enhancer	HepG2	liver
16	chr14:21638600-21639600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:21638800-21639000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:21639000-21639800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:21639000-21639800	Enhancers	HepG2	liver
20	chr14:21639000-21641000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:21641000-21641200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:21641200-21645000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:21650000-21651400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:21650800-21651000	Enhancers	Fetal Brain Male	brain
25	chr14:21650800-21651200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:21651000-21652000	Weak transcription	Fetal Brain Male	brain
27	chr14:21651200-21659600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:21651400-21651800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:21651800-21652800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:21652000-21654200	Enhancers	Fetal Brain Male	brain

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