Variant report

Variant	nsv826872
Chromosome Location	chr14:21343499-21348659
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	chr14:21344519-21344558	HepG2	liver:	n/a	chr14:21344532-21344543
2	CTCF	chr14:21348360-21348510	MCF-7	breast:	n/a	chr14:21348399-21348407
3	E2F6	chr14:21346713-21347017	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:21344052-21344122	GM12878	blood:	n/a	n/a
5	SPI1	chr14:21343387-21343536	GM12878	blood:	n/a	chr14:21343449-21343458
6	SPI1	chr14:21343271-21343536	GM12878	blood:	n/a	chr14:21343449-21343458
7	SPI1	chr14:21343198-21343601	GM12891	blood:	n/a	chr14:21343449-21343458
8	SPI1	chr14:21343254-21343625	GM12891	blood:	n/a	chr14:21343449-21343458
9	USF1	chr14:21346890-21347183	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF2	chr14:21347003-21347068	K562	blood:	n/a	chr14:21347053-21347064
11	USF2	chr14:21346943-21347167	Hela-S3	cervix:	n/a	chr14:21347053-21347064
12	USF2	chr14:21346933-21347230	HepG2	liver:	n/a	chr14:21347053-21347064

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21345187..21348103-chr14:21455224..21457829,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASE1-1	chr14:21343696-21343927	ENSG00000258642.1
2	lnc-RNASE1-1	chr14:21343696-21343904	XLOC_010966

Variant related genes	Relation type
ENSG00000259130	TF binding region
ENSG00000258642	TF binding region

Extended variants
information (count: 202 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:202 , 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	rs544983301	chr14:21343586-21343587	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565889757	chr14:21343594-21343595	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs148934343	chr14:21343667-21343668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181622670	chr14:21343671-21343672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184398608	chr14:21343692-21343693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527562173	chr14:21343701-21343702	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs537035858	chr14:21343754-21343755	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs557353669	chr14:21343756-21343757	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs567627863	chr14:21343757-21343758	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs536768021	chr14:21343773-21343774	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs188389368	chr14:21343781-21343782	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs372446851	chr14:21343838-21343839	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs11852222	chr14:21343852-21343853	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs538895841	chr14:21343872-21343873	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs181213333	chr14:21343873-21343874	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs575558183	chr14:21343880-21343881	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs377190539	chr14:21343896-21343897	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs185662698	chr14:21343925-21343926	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs563310278	chr14:21343926-21343927	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs28544189	chr14:21343957-21343958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs55738263	chr14:21343959-21343960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559536131	chr14:21343976-21343977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528286407	chr14:21343981-21343982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7144670	chr14:21344043-21344044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549816939	chr14:21344066-21344067	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs565155293	chr14:21344076-21344077	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs571624154	chr14:21344124-21344125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12435849	chr14:21344168-21344169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550667717	chr14:21344192-21344193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114369892	chr14:21344212-21344213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548121333	chr14:21344222-21344223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536304553	chr14:21344255-21344256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190747908	chr14:21344263-21344264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566666834	chr14:21344286-21344287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538824224	chr14:21344295-21344296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181026650	chr14:21344310-21344311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575812106	chr14:21344322-21344323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369307789	chr14:21344324-21344325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140823035	chr14:21344357-21344358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144824778	chr14:21344396-21344397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573576715	chr14:21344397-21344398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542298642	chr14:21344427-21344428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560621065	chr14:21344486-21344487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138745452	chr14:21344487-21344488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7492769	chr14:21344531-21344532	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545196128	chr14:21344535-21344536	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs187102356	chr14:21344543-21344544	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs192383716	chr14:21344596-21344597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568035150	chr14:21344626-21344627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10131463	chr14:21344653-21344654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21342200-21344800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr14:21342400-21343800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:21342400-21347600	Weak transcription	Right Atrium	heart
4	chr14:21342600-21343800	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr14:21342600-21346800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:21343200-21345200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:21343800-21346600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr14:21343800-21346800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr14:21344800-21345400	Enhancers	Duodenum Mucosa	Duodenum
10	chr14:21344800-21345800	Enhancers	Fetal Intestine Large	intestine
11	chr14:21344800-21345800	Enhancers	Fetal Intestine Small	intestine
12	chr14:21345200-21345400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:21345400-21345800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:21345800-21346400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr14:21346600-21350200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr14:21346800-21347600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr14:21346800-21348800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr14:21347000-21347600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr14:21347600-21347800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr14:21347600-21347800	Enhancers	Right Atrium	heart
21	chr14:21347600-21348200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr14:21347600-21350200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:21347800-21348600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:21348000-21348800	Weak transcription	Primary T cells from cord blood	blood
25	chr14:21348000-21350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:21348200-21349400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr14:21348600-21350000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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