Variant report

Variant	esv2761820
Chromosome Location	chr14:22337393-22354103
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	chr14:22337480-22337630	HMF	breast:	n/a	n/a
2	CTCF	chr14:22337420-22337570	GM12872	blood:	n/a	n/a
3	CTCF	chr14:22337456-22337533	GM20000	blood:	n/a	n/a
4	CTCF	chr14:22337360-22337510	GM06990	blood:	n/a	n/a
5	CUX1	chr14:22340294-22340295	GM12878	blood:	n/a	n/a
6	E2F4	chr14:22345379-22345672	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr14:22350355-22350880	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr14:22349055-22349533	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr14:22338920-22339129	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr14:22338929-22339058	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr14:22339004-22339139	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr14:22349080-22349604	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr14:22350458-22350930	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr14:22342319-22342797	HUVEC	blood vessel:	n/a	n/a
15	FOS	chr14:22349080-22349541	MCF10A-Er-Src	breast:	n/a	n/a
16	GATA2	chr14:22342098-22342819	HUVEC	blood vessel:	n/a	n/a
17	NFYB	chr14:22343243-22343443	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:22340600-22340735	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr14:22350347-22350544	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr14:22342460-22342660	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr14:22349130-22349211	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr14:22342271-22342819	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr14:22343766-22343779	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr14:22350777-22350857	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr14:22345835-22345882	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr14:22339697-22339700	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr14:22350021-22350077	MCF10A-Er-Src	breast:	n/a	n/a
28	SETDB1	chr14:22338299-22338503	U2OS	brain:	n/a	n/a
29	STAT3	chr14:22349097-22349615	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr14:22350279-22350815	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr14:22350422-22350634	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr14:22348804-22351005	MCF10A-Er-Src	breast:	n/a	chr14:22350226-22350234 chr14:22350185-22350193
33	STAT3	chr14:22349078-22349621	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr14:22349090-22349619	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr14:22346667-22346750	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr14:22350279-22350784	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr14:22350052-22350070	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr14:22353277-22353448	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AE000662.92.1-10	chr14:22337290-22337543	NONHSAT035709

Variant related genes	Relation type
TRAV12-2	TF binding region

Extended variants
information (count: 688 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs876093	chr14:22337393-22337394	Active TSS Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190718879	chr14:22337396-22337397	Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs377431927	chr14:22337408-22337409	Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs369800403	chr14:22337415-22337416	Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs374503382	chr14:22337417-22337418	Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs377608125	chr14:22337431-22337432	Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs538293563	chr14:22337447-22337448	Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs371345175	chr14:22337467-22337468	Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs202177142	chr14:22337482-22337483	Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs369880992	chr14:22337488-22337489	Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs377227552	chr14:22337492-22337493	Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs568431084	chr14:22337497-22337498	Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs533982212	chr14:22337505-22337506	Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs201746662	chr14:22337517-22337518	Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs373642509	chr14:22337520-22337521	Active TSS Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs367738680	chr14:22337554-22337555	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs372092882	chr14:22337584-22337585	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs182322432	chr14:22337630-22337631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540150773	chr14:22337639-22337640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370502261	chr14:22337678-22337679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561387932	chr14:22337704-22337705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543895909	chr14:22337708-22337709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554292198	chr14:22337741-22337742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144353100	chr14:22337754-22337755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187740453	chr14:22337772-22337773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560108308	chr14:22337808-22337809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532277032	chr14:22337809-22337810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546121520	chr14:22337812-22337813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562630475	chr14:22337819-22337820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531574943	chr14:22337820-22337821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548695599	chr14:22337822-22337823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568486141	chr14:22337833-22337834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527804621	chr14:22337834-22337835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547449244	chr14:22337857-22337858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12434408	chr14:22337923-22337924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550437031	chr14:22337930-22337931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539705709	chr14:22337945-22337946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143916428	chr14:22337964-22337965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72638480	chr14:22337977-22337978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs2018398	chr14:22337980-22337981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532244701	chr14:22337981-22337982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547576520	chr14:22338012-22338013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574415061	chr14:22338013-22338014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540342851	chr14:22338014-22338015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553441274	chr14:22338015-22338016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576780838	chr14:22338016-22338017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546109101	chr14:22338021-22338022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562815308	chr14:22338023-22338024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74310265	chr14:22338049-22338050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536371128	chr14:22338082-22338083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Barrett''s syndrome	19417022	CNVD
Lysinuric protein intolerance	18716612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22321400-22340800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:22334800-22339400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:22336400-22337400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr14:22336400-22337400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr14:22337000-22337600	Active TSS	Primary T cells from cord blood	blood
6	chr14:22337000-22337600	Active TSS	Primary T cells fromperipheralblood	blood
7	chr14:22337000-22337600	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr14:22337000-22337600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr14:22337000-22337600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr14:22337000-22337600	Active TSS	Thymus	Thymus
11	chr14:22337000-22339200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:22337200-22337400	Active TSS	Fetal Thymus	thymus
13	chr14:22337200-22337600	Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr14:22337200-22340000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:22337200-22341800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:22337200-22342600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:22337400-22337600	Flanking Active TSS	Fetal Thymus	thymus
18	chr14:22337400-22338600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:22337400-22340400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:22337400-22341000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:22337600-22340600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:22337600-22340600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr14:22337600-22341200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:22337600-22341600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:22337600-22342600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr14:22337600-22342600	Weak transcription	Fetal Thymus	thymus
27	chr14:22338600-22338800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:22338800-22342600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:22339200-22339400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:22339400-22339600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr14:22339600-22340000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:22340000-22342000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:22340000-22342000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:22340000-22342800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr14:22340400-22342600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr14:22340400-22342600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr14:22340600-22341000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr14:22340600-22341000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr14:22340600-22342400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr14:22340800-22342600	Enhancers	Primary hematopoietic stem cells	blood
41	chr14:22341000-22341200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr14:22341000-22341200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:22341000-22342600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr14:22341000-22344800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:22341200-22342200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr14:22341200-22342600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:22341200-22343000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:22341200-22344600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr14:22341400-22342400	Enhancers	Primary T cells from cord blood	blood
50	chr14:22341600-22342400	Enhancers	Primary T helper cells fromperipheralblood	blood

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