Variant report

Variant	nsv522337
Chromosome Location	chr14:22340873-22356225
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	CEBPB	chr14:22356124-22356169	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr14:22355740-22355890	HCPEpiC	choroid plexus:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
3	CTCF	chr14:22355740-22355890	SAEC	small airway:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
4	CTCF	chr14:22355845-22355899	GM10266	blood:	n/a	n/a
5	CTCF	chr14:22355836-22355911	Pancreas_OC	pancreas:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
6	CTCF	chr14:22355900-22356050	A549	lung:	n/a	n/a
7	CTCF	chr14:22355740-22355890	HRE	kidney:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
8	CTCF	chr14:22355720-22355870	GM06990	blood:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
9	CTCF	chr14:22355828-22355882	HepG2	liver:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
10	CTCF	chr14:22355779-22355866	Lung_OC	lung:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
11	CTCF	chr14:22355844-22355917	MCF-7	breast:	n/a	n/a
12	CTCF	chr14:22355760-22355972	MCF-7	breast:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
13	CTCF	chr14:22355680-22355830	RPTEC	kidney:	n/a	n/a
14	CTCF	chr14:22355792-22355891	GM12878	blood:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
15	CTCF	chr14:22355640-22355790	HCT-116	colon:	n/a	n/a
16	CTCF	chr14:22355980-22356130	HRE	kidney:	n/a	n/a
17	CTCF	chr14:22355720-22355870	HBMEC	blood vessel:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
18	CTCF	chr14:22355780-22355930	MCF-7	breast:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
19	CTCF	chr14:22355846-22355934	MCF-7	breast:	n/a	n/a
20	CTCF	chr14:22355740-22355890	HEK293	kidney:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
21	CTCF	chr14:22355582-22356087	MCF-7	breast:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
22	CTCF	chr14:22355600-22355870	HMEC	breast:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
23	CTCF	chr14:22355807-22355896	Gliobla	brain:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
24	CTCF	chr14:22355720-22355870	HMEC	breast:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
25	CTCF	chr14:22355740-22355890	HBMEC	blood vessel:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
26	CTCF	chr14:22355759-22355952	Spleen_OC	spleen:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
27	CTCF	chr14:22355500-22355650	GM06990	blood:	n/a	n/a
28	CTCF	chr14:22355833-22355923	A549	lung:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
29	CTCF	chr14:22355757-22355979	LNCaP	prostate:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
30	CTCF	chr14:22355839-22355928	GM19239	blood:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
31	CTCF	chr14:22355790-22355953	GM12878	blood:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
32	CTCF	chr14:22355740-22355890	Caco-2	colon:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
33	CTCF	chr14:22355720-22355870	NHEK	skin:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
34	CTCF	chr14:22355820-22355957	NHEK	skin:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
35	CTCF	chr14:22355740-22355890	HUVEC	blood vessel:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
36	CTCF	chr14:22355720-22355870	GM12872	blood:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
37	CTCF	chr14:22355720-22355870	RPTEC	kidney:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
38	CTCF	chr14:22355760-22355910	MCF-7	breast:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
39	CTCF	chr14:22355712-22355938	HUVEC	blood vessel:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
40	CTCF	chr14:22355804-22355904	K562	blood:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
41	CTCF	chr14:22355765-22355949	LNCaP	prostate:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
42	CTCF	chr14:22355786-22355895	Hela-S3	cervix:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
43	CTCF	chr14:22355776-22355962	MCF-7	breast:	n/a	chr14:22355841-22355862 chr14:22355840-22355856 chr14:22355839-22355857
44	E2F4	chr14:22345379-22345672	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr14:22350355-22350880	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr14:22349055-22349533	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr14:22349080-22349541	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr14:22355547-22355952	HUVEC	blood vessel:	n/a	n/a
49	FOS	chr14:22350458-22350930	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr14:22342319-22342797	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
TRAV12-2	TF binding region

Extended variants
information (count: 643 )
Associated
traits (count: 67 )

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	rs17255077	chr14:22340873-22340874	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189899419	chr14:22340886-22340887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542773638	chr14:22340904-22340905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553294334	chr14:22340914-22340915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182119277	chr14:22340915-22340916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545715765	chr14:22340928-22340929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565608021	chr14:22340954-22340955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75546728	chr14:22340986-22340987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72638481	chr14:22341026-22341027	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs186307559	chr14:22341040-22341041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4982520	chr14:22341049-22341050	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143052111	chr14:22341053-22341054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565660703	chr14:22341062-22341063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528122376	chr14:22341106-22341107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191600881	chr14:22341131-22341132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373072574	chr14:22341136-22341137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148187943	chr14:22341152-22341153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180672901	chr14:22341199-22341200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141223241	chr14:22341246-22341247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567360276	chr14:22341279-22341280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76568600	chr14:22341281-22341282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185107037	chr14:22341327-22341328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2141963	chr14:22341451-22341452	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539070254	chr14:22341453-22341454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2178776	chr14:22341559-22341560	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575980964	chr14:22341570-22341571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376803256	chr14:22341611-22341612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190789418	chr14:22341629-22341630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2178777	chr14:22341658-22341659	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs77709167	chr14:22341661-22341662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559210340	chr14:22341672-22341673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150736321	chr14:22341677-22341678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183169631	chr14:22341694-22341695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564559324	chr14:22341703-22341704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529888896	chr14:22341756-22341757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560276348	chr14:22341760-22341761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530668804	chr14:22341775-22341776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550643522	chr14:22341805-22341806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567452865	chr14:22341818-22341819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140140528	chr14:22341907-22341908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142093587	chr14:22341924-22341925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2141964	chr14:22342001-22342002	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116235920	chr14:22342050-22342051	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs558946194	chr14:22342068-22342069	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs575718426	chr14:22342077-22342078	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs372179186	chr14:22342086-22342087	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs538528853	chr14:22342100-22342101	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs115143826	chr14:22342103-22342104	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs574954167	chr14:22342105-22342106	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540502536	chr14:22342118-22342119	Enhancers Weak transcription Flanking Active TSS	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22337200-22341800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr14:22337200-22342600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:22337400-22341000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr14:22337600-22341200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr14:22337600-22341600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:22337600-22342600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr14:22337600-22342600	Weak transcription	Fetal Thymus	thymus
8	chr14:22338800-22342600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:22340000-22342000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:22340000-22342000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:22340000-22342800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:22340400-22342600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:22340400-22342600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr14:22340600-22341000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr14:22340600-22341000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr14:22340600-22342400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr14:22340800-22342600	Enhancers	Primary hematopoietic stem cells	blood
18	chr14:22341000-22341200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:22341000-22341200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:22341000-22342600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr14:22341000-22344800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:22341200-22342200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr14:22341200-22342600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr14:22341200-22343000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:22341200-22344600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr14:22341400-22342400	Enhancers	Primary T cells from cord blood	blood
27	chr14:22341600-22342400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr14:22341800-22342200	Enhancers	HUVEC	blood vessel
29	chr14:22341800-22344600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr14:22342000-22343200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr14:22342000-22343200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:22342000-22343400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:22342200-22342400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr14:22342200-22342800	Bivalent Enhancer	Dnd41	blood
35	chr14:22342200-22343000	Flanking Active TSS	HUVEC	blood vessel
36	chr14:22342200-22343400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:22342200-22344600	Enhancers	Thymus	Thymus
38	chr14:22342400-22342800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr14:22342400-22343200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr14:22342400-22343200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr14:22342400-22343400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr14:22342400-22343600	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr14:22342600-22343000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr14:22342600-22343000	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr14:22342600-22343200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
46	chr14:22342600-22343200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr14:22342600-22343400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr14:22342600-22343400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr14:22342600-22343600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr14:22342600-22344400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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