Variant report

Variant	nsv527381
Chromosome Location	chr14:21422666-21424718
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	ARID3A	chr14:21423410-21423550	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:21423324-21423698	HepG2	liver:	n/a	chr14:21423498-21423509 chr14:21423498-21423511
3	CEBPB	chr14:21423250-21423720	HepG2	liver:	n/a	chr14:21423498-21423509 chr14:21423498-21423511
4	CEBPB	chr14:21423391-21423541	Hela-S3	cervix:	n/a	chr14:21423498-21423509 chr14:21423498-21423511
5	CEBPB	chr14:21423393-21423620	HepG2	liver:	n/a	chr14:21423498-21423509 chr14:21423498-21423511
6	CEBPB	chr14:21423483-21423531	A549	lung:	n/a	chr14:21423498-21423509 chr14:21423498-21423511
7	CEBPB	chr14:21423326-21423702	HepG2	liver:	n/a	chr14:21423498-21423509 chr14:21423498-21423511
8	CEBPD	chr14:21423329-21423575	HepG2	liver:	n/a	chr14:21423499-21423510
9	EP300	chr14:21423290-21423663	HepG2	liver:	n/a	n/a
10	EP300	chr14:21423315-21423604	HepG2	liver:	n/a	n/a
11	FOXA1	chr14:21423231-21423739	HepG2	liver:	n/a	n/a
12	FOXA2	chr14:21423106-21423705	HepG2	liver:	n/a	n/a
13	GATA1	chr14:21424431-21424844	K562	blood:	n/a	chr14:21424708-21424715 chr14:21424708-21424715 chr14:21424703-21424719 chr14:21424708-21424715 chr14:21424701-21424722
14	GATA2	chr14:21424519-21424797	SH-SY5Y	brain:	n/a	chr14:21424708-21424715 chr14:21424708-21424715 chr14:21424703-21424719 chr14:21424708-21424715 chr14:21424701-21424722
15	HDAC2	chr14:21423317-21423675	HepG2	liver:	n/a	n/a
16	HNF4A	chr14:21423361-21423593	HepG2	liver:	n/a	chr14:21423508-21423523 chr14:21423508-21423523
17	HNF4A	chr14:21423381-21423702	HepG2	liver:	n/a	chr14:21423508-21423523 chr14:21423508-21423523
18	HNF4G	chr14:21423386-21423591	HepG2	liver:	n/a	chr14:21423508-21423523 chr14:21423508-21423523
19	MAX	chr14:21423492-21424014	NB4	blood:	n/a	n/a
20	MYC	chr14:21423348-21424034	NB4	blood:	n/a	n/a
21	NFIC	chr14:21423333-21423634	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:21423329-21424051	HL-60	blood:	n/a	n/a
23	POLR2A	chr14:21423237-21424102	HL-60	blood:	n/a	n/a
24	POLR2A	chr14:21424244-21424333	GM12878	blood:	n/a	n/a
25	RCOR1	chr14:21424613-21424810	K562	blood:	n/a	n/a
26	REST	chr14:21423353-21423963	HL-60	blood:	n/a	n/a
27	SP1	chr14:21423291-21423708	HepG2	liver:	n/a	n/a
28	SPI1	chr14:21423561-21424131	HL-60	blood:	n/a	n/a
29	SPI1	chr14:21423646-21423968	HL-60	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21422965-21423015	Hela-S3	cervix:	n/a
2	chr14:21422965-21423015	Hela-S3	cervix:	n/a
3	chr14:21423769-21423819	HRPEpiC	eye:	n/a
4	chr14:21422965-21423015	HCPEpiC	choroid plexus:	n/a
5	chr14:21422965-21423015	HEEpiC	esophagus:	n/a
6	chr14:21423684-21423734	HCM	heart:	n/a
7	chr14:21422965-21423015	AG10803	skin:	n/a
8	chr14:21424117-21424167	HEEpiC	esophagus:	n/a
9	chr14:21424117-21424167	HIPEpiC	eye:	n/a
10	chr14:21423684-21423734	AoSMC	blood vessel:	n/a
11	chr14:21422965-21423015	AG04450	lung:	fetal
12	chr14:21422965-21423015	GM19239	blood:	n/a
13	chr14:21423684-21423734	AG04449	skin:	fetal
14	chr14:21422965-21423015	NH-A	brain:	n/a
15	chr14:21424117-21424167	HRCEpiC	kidney:	n/a
16	chr14:21423769-21423819	NT2-D1	testis:	n/a
17	chr14:21423769-21423819	HCM	heart:	n/a
18	chr14:21423837-21423887	SAEC	small airway:	n/a
19	chr14:21424117-21424167	ProgFib	skin:	n/a
20	chr14:21423837-21423887	GM06990	blood:	n/a
21	chr14:21423769-21423819	HEK293	kidney:	embryo
22	chr14:21424117-21424167	MCF10A-Er-Src	breast:	n/a
23	chr14:21423837-21423887	HUVEC	blood vessel:	n/a
24	chr14:21423684-21423734	HEEpiC	esophagus:	n/a
25	chr14:21423684-21423734	SK-N-SH	brain:	n/a
26	chr14:21423684-21423734	ProgFib	skin:	n/a
27	chr14:21423769-21423819	HRE	kidney:	n/a
28	chr14:21423769-21423819	HL-60	blood:	n/a
29	chr14:21423769-21423819	GM12891	blood:	n/a
30	chr14:21423837-21423887	ECC-1	luminal epithelium:	n/a
31	chr14:21424117-21424167	NHDF-neo	bronchial:	n/a
32	chr14:21423684-21423734	HIPEpiC	eye:	n/a
33	chr14:21422965-21423015	SK-N-MC	brain:	n/a
34	chr14:21423769-21423819	HUVEC	blood vessel:	n/a
35	chr14:21423837-21423887	HNPCEpiC	eye:	n/a
36	chr14:21423684-21423734	SK-N-SH_RA	brain:	n/a
37	chr14:21423769-21423819	MCF-7	breast:	n/a
38	chr14:21422965-21423015	ProgFib	skin:	n/a
39	chr14:21424117-21424167	GM06990	blood:	n/a
40	chr14:21422965-21423015	ovcar-3	ovarian:	n/a
41	chr14:21424117-21424167	A549	lung:	n/a
42	chr14:21423769-21423819	HMEC	breast:	n/a
43	chr14:21423684-21423734	HCF	heart:	n/a
44	chr14:21423684-21423734	BJ	skin:	n/a
45	chr14:21422965-21423015	MCF10A-Er-Src	breast:	n/a
46	chr14:21422965-21423015	H1-hESC	embryonic stem cell:	embryo
47	chr14:21424117-21424167	AG04449	skin:	fetal
48	chr14:21423684-21423734	U87	brain:	n/a
49	chr14:21424117-21424167	GM19239	blood:	n/a
50	chr14:21423684-21423734	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21417758..21420748-chr14:21423705..21426897,3	MCF-7	breast:

Variant related genes	Relation type
RNASE2	TF binding region
RNASE2	CpG island

Extended variants
information (count: 107 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2771358	chr14:21422666-21422667	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs578011613	chr14:21422669-21422670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548367078	chr14:21422676-21422677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144267124	chr14:21422679-21422680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563803842	chr14:21422762-21422763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61977432	chr14:21422804-21422805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371544188	chr14:21422811-21422812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2771359	chr14:21422849-21422850	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs147809588	chr14:21422851-21422852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188365101	chr14:21422895-21422896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528793476	chr14:21422911-21422912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149185040	chr14:21422912-21422913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143359467	chr14:21422923-21422924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148354393	chr14:21422950-21422951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549450623	chr14:21423023-21423024	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs2771360	chr14:21423055-21423056	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572908945	chr14:21423058-21423059	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs150866456	chr14:21423059-21423060	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs2771361	chr14:21423060-21423061	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs10142760	chr14:21423068-21423069	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs116648833	chr14:21423082-21423083	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs534936864	chr14:21423100-21423101	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550671925	chr14:21423101-21423102	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs557830139	chr14:21423155-21423156	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs577952499	chr14:21423165-21423166	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs140588709	chr14:21423166-21423167	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs189397788	chr14:21423177-21423178	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs114040164	chr14:21423185-21423186	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs180990075	chr14:21423258-21423259	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs533228260	chr14:21423270-21423271	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs559993563	chr14:21423282-21423283	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs145896846	chr14:21423304-21423305	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs117496390	chr14:21423323-21423324	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs11568815	chr14:21423504-21423505	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs565475051	chr14:21423525-21423526	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs532919875	chr14:21423587-21423588	Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs112496485	chr14:21423621-21423622	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs542041054	chr14:21423650-21423651	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563003029	chr14:21423656-21423657	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528958419	chr14:21423686-21423687	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs945351	chr14:21423687-21423688	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565881664	chr14:21423692-21423693	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs113742118	chr14:21423705-21423706	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs528307523	chr14:21423740-21423741	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs142806204	chr14:21423787-21423788	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs2013109	chr14:21423790-21423791	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs10132319	chr14:21423801-21423802	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs112248075	chr14:21423838-21423839	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567716947	chr14:21423845-21423846	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs536767235	chr14:21423855-21423856	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	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	21293372	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21420000-21423200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr14:21420200-21423200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:21420200-21423600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr14:21421800-21423200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:21422400-21424000	Enhancers	Liver	Liver
6	chr14:21422400-21425400	Enhancers	Fetal Thymus	thymus
7	chr14:21422600-21423000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr14:21422600-21424400	Enhancers	HepG2	liver
9	chr14:21423000-21423600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:21423000-21424600	Active TSS	Brain Hippocampus Middle	brain
11	chr14:21423000-21424600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr14:21423200-21423800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:21423200-21423800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr14:21423200-21423800	Enhancers	Adipose Nuclei	Adipose
15	chr14:21423200-21424000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:21423200-21424200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr14:21423200-21424200	Enhancers	Primary hematopoietic stem cells	blood
18	chr14:21423200-21424200	Enhancers	Thymus	Thymus
19	chr14:21423400-21424400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:21423600-21423800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr14:21423600-21423800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:21423600-21426400	Enhancers	Primary T cells from cord blood	blood
23	chr14:21423800-21424800	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr14:21423800-21424800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr14:21424000-21424800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:21424000-21425600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr14:21424200-21424800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr14:21424200-21425200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr14:21424400-21429200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:21424600-21424800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr14:21424600-21429000	Weak transcription	Brain Hippocampus Middle	brain

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