Variant report

Variant	nsv976315
Chromosome Location	chr14:21627271-21634219
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	CTCF	chr14:21633250-21633302	GM13977	blood:	n/a	n/a
2	EP300	chr14:21631981-21632259	T-47D	breast:	n/a	n/a
3	FOXA1	chr14:21631949-21632153	T-47D	breast:	n/a	n/a
4	GATA3	chr14:21631962-21632238	T-47D	breast:	n/a	n/a
5	MYC	chr14:21633870-21634073	MCF10A-Er-Src	breast:	n/a	n/a
6	RCOR1	chr14:21633551-21633721	K562	blood:	n/a	n/a
7	SPI1	chr14:21633043-21633313	GM12878	blood:	n/a	chr14:21633244-21633257
8	SPI1	chr14:21627287-21627445	K562	blood:	n/a	chr14:21627321-21627334
9	SPI1	chr14:21627230-21627500	GM12878	blood:	n/a	chr14:21627321-21627334
10	ZNF263	chr14:21633881-21634261	HEK293-T-REx	kidney:	n/a	chr14:21634058-21634067 chr14:21634079-21634100

Variant related genes	Relation type
OR5AU1	TF binding region
ENSG00000259102	TF binding region

Extended variants
information (count: 214 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10142812	chr14:21627274-21627275	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs556066298	chr14:21627292-21627293	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs2004878	chr14:21627297-21627298	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs561139086	chr14:21627298-21627299	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs140424125	chr14:21627322-21627323	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs527592704	chr14:21627419-21627420	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs2004877	chr14:21627465-21627466	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs74037724	chr14:21627475-21627476	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs74037725	chr14:21627480-21627481	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148063646	chr14:21628403-21628404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551335513	chr14:21628453-21628454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192684530	chr14:21628483-21628484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143372435	chr14:21628484-21628485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35312853	chr14:21628489-21628490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147146481	chr14:21628490-21628491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566818168	chr14:21628501-21628502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183422151	chr14:21628504-21628505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577950193	chr14:21628519-21628520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11622658	chr14:21628521-21628522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563553691	chr14:21628532-21628533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140364894	chr14:21628539-21628540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543177678	chr14:21628576-21628577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569251344	chr14:21631013-21631014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537930488	chr14:21631067-21631068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548321734	chr14:21631072-21631073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568305486	chr14:21631097-21631098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534086702	chr14:21631115-21631116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1887065	chr14:21631143-21631144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571025755	chr14:21631144-21631145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144535004	chr14:21631145-21631146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190310670	chr14:21631148-21631149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs67536953	chr14:21631164-21631165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181185896	chr14:21631194-21631195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554747810	chr14:21631203-21631204	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574597919	chr14:21631247-21631248	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185721427	chr14:21631253-21631254	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545040343	chr14:21631263-21631264	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367641668	chr14:21631274-21631275	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117551621	chr14:21631287-21631288	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532272861	chr14:21631321-21631322	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11851396	chr14:21631328-21631329	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146058382	chr14:21631348-21631349	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189691514	chr14:21631385-21631386	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10149869	chr14:21631426-21631427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182265375	chr14:21631433-21631434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111982884	chr14:21631440-21631441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547549533	chr14:21631443-21631444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10149170	chr14:21631457-21631458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10141250	chr14:21631498-21631499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556864811	chr14:21631499-21631500	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21628400-21628600	Enhancers	Pancreas	Pancrea
2	chr14:21631000-21631800	Enhancers	Fetal Lung	lung
3	chr14:21631200-21631400	Bivalent Enhancer	Fetal Kidney	kidney
4	chr14:21631400-21632200	Enhancers	Fetal Kidney	kidney
5	chr14:21631600-21632200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr14:21631800-21632200	Flanking Active TSS	Fetal Lung	lung
7	chr14:21632200-21632600	Enhancers	Fetal Lung	lung
8	chr14:21632600-21633200	Weak transcription	Fetal Lung	lung
9	chr14:21633200-21634000	Enhancers	Fetal Lung	lung
10	chr14:21633400-21634400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:21634000-21634400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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