Variant report

Variant	nsv974451
Chromosome Location	chr14:22204810-22215227
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	MAFK	chr14:22213961-22214065	HepG2	liver:	n/a	n/a
2	MAFK	chr14:22213906-22213914	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:22205180-22205288	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:22206252-22206452	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr14:22213500-22213970	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr14:22208555-22208577	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr14:22210313-22210543	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr14:22208749-22208844	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr14:22213110-22213198	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr14:22211830-22212004	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr14:22213378-22213645	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr14:22208938-22209160	MCF10A-Er-Src	breast:	n/a	n/a
13	USF2	chr14:22204944-22205111	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RPL4P1	TF binding region
TRAV5	TF binding region

Extended variants
information (count: 296 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112863501	chr14:22204842-22204843	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs535050724	chr14:22204851-22204852	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575450704	chr14:22204872-22204873	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs558292636	chr14:22204900-22204901	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs3748366	chr14:22204911-22204912	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs545466788	chr14:22204949-22204950	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148839584	chr14:22204998-22204999	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs369714824	chr14:22205002-22205003	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74035041	chr14:22205009-22205010	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs541785927	chr14:22205046-22205047	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs2272540	chr14:22205074-22205075	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs375268854	chr14:22205096-22205097	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368689071	chr14:22205110-22205111	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs540976668	chr14:22205120-22205121	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs552770419	chr14:22205121-22205122	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373316766	chr14:22205138-22205139	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs140657899	chr14:22205154-22205155	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs377704936	chr14:22205158-22205159	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs372255405	chr14:22205180-22205181	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369848530	chr14:22205192-22205193	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs373522363	chr14:22205202-22205203	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs529415266	chr14:22205211-22205212	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs188540080	chr14:22205212-22205213	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs561051876	chr14:22205220-22205221	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs565952410	chr14:22205230-22205231	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs535279911	chr14:22205231-22205232	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs370951734	chr14:22205237-22205238	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs376545303	chr14:22205255-22205256	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs558054222	chr14:22205276-22205277	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370051581	chr14:22205280-22205281	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs368474353	chr14:22205292-22205293	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs571475604	chr14:22205295-22205296	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs570228575	chr14:22205296-22205297	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs537230604	chr14:22205297-22205298	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs145912705	chr14:22205339-22205340	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575726888	chr14:22205400-22205401	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541597766	chr14:22205413-22205414	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs3817625	chr14:22205447-22205448	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571948596	chr14:22205463-22205464	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs191263185	chr14:22205471-22205472	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540310472	chr14:22205481-22205482	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs564386244	chr14:22205484-22205485	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs561782236	chr14:22205492-22205493	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs533295279	chr14:22205579-22205580	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs55950514	chr14:22205603-22205604	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs77613355	chr14:22205607-22205608	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs550512242	chr14:22205615-22205616	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs529350187	chr14:22205616-22205617	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs549214806	chr14:22205653-22205654	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs114865486	chr14:22205763-22205764	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	21364760	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22188400-22209600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:22203400-22205600	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr14:22203800-22205200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr14:22203800-22205400	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
5	chr14:22203800-22205800	Active TSS	Primary T cells from cord blood	blood
6	chr14:22204000-22205200	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr14:22204000-22205800	Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr14:22204000-22206200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr14:22204000-22207000	Active TSS	Fetal Thymus	thymus
10	chr14:22204000-22208200	Active TSS	Thymus	Thymus
11	chr14:22205400-22206600	Active TSS	Primary T cells fromperipheralblood	blood
12	chr14:22205600-22206000	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr14:22205600-22208800	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
14	chr14:22205800-22206000	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
15	chr14:22205800-22207400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
16	chr14:22206000-22206400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr14:22206200-22208000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:22206400-22206600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
19	chr14:22206600-22206800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr14:22206600-22207000	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
21	chr14:22207000-22207200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr14:22207000-22211200	Active TSS	Primary T cells fromperipheralblood	blood
23	chr14:22208000-22208200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr14:22208000-22209000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr14:22208200-22208400	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr14:22208200-22209400	Active TSS	Primary T cells from cord blood	blood
27	chr14:22208400-22208600	Bivalent/Poised TSS	Fetal Thymus	thymus
28	chr14:22208600-22209400	Active TSS	Fetal Thymus	thymus
29	chr14:22209000-22210200	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr14:22209400-22210600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
31	chr14:22209400-22211200	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
32	chr14:22209600-22211200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr14:22209800-22210200	Bivalent/Poised TSS	Fetal Thymus	thymus
34	chr14:22210000-22211200	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--

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