Variant report

Variant	nsv826881
Chromosome Location	chr14:21424056-21426800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr14:21424431-21424844	K562	blood:	n/a	chr14:21424708-21424715 chr14:21424708-21424715 chr14:21424703-21424719 chr14:21424708-21424715 chr14:21424701-21424722
2	GATA2	chr14:21424519-21424797	SH-SY5Y	brain:	n/a	chr14:21424708-21424715 chr14:21424708-21424715 chr14:21424703-21424719 chr14:21424708-21424715 chr14:21424701-21424722
3	POLR2A	chr14:21424244-21424333	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:21423237-21424102	HL-60	blood:	n/a	n/a
5	RCOR1	chr14:21424613-21424810	K562	blood:	n/a	n/a
6	SPI1	chr14:21423561-21424131	HL-60	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21424117-21424167	GM12878	blood:	n/a
2	chr14:21424117-21424167	AG09309	skin:	n/a
3	chr14:21424117-21424167	AoSMC	blood vessel:	n/a
4	chr14:21424117-21424167	Hela-S3	cervix:	n/a
5	chr14:21424117-21424167	NH-A	brain:	n/a
6	chr14:21424117-21424167	NHBE	bronchial:	n/a
7	chr14:21424117-21424167	HCPEpiC	choroid plexus:	n/a
8	chr14:21424117-21424167	U87	brain:	n/a
9	chr14:21424117-21424167	AG04449	skin:	fetal
10	chr14:21424117-21424167	CMK	blood:	n/a
11	chr14:21424117-21424167	ProgFib	skin:	n/a
12	chr14:21424117-21424167	PANC-1	pancreas:	n/a
13	chr14:21424117-21424167	SK-N-SH	brain:	n/a
14	chr14:21424117-21424167	NT2-D1	testis:	n/a
15	chr14:21424117-21424167	HCT-116	colon:	n/a
16	chr14:21424117-21424167	SAEC	small airway:	n/a
17	chr14:21424117-21424167	HMEC	breast:	n/a
18	chr14:21424117-21424167	IMR90	lung:	fetal
19	chr14:21424117-21424167	RPTEC	kidney:	n/a
20	chr14:21424117-21424167	SK-N-MC	brain:	n/a
21	chr14:21424117-21424167	NB4	blood:	n/a
22	chr14:21424117-21424167	A549	lung:	n/a
23	chr14:21424117-21424167	PrEC	prostate:	n/a
24	chr14:21424117-21424167	HRE	kidney:	n/a
25	chr14:21424117-21424167	Jurkat	blood:	n/a
26	chr14:21424117-21424167	HPAEpiC	pulmonary alveolar:	n/a
27	chr14:21424117-21424167	Caco-2	colon:	n/a
28	chr14:21424117-21424167	K562	blood:	n/a
29	chr14:21424117-21424167	MCF10A-Er-Src	breast:	n/a
30	chr14:21424117-21424167	AG09319	gingival:	n/a
31	chr14:21424117-21424167	AG10803	skin:	n/a
32	chr14:21424117-21424167	Hepatocyte	liver:	n/a
33	chr14:21424117-21424167	LNCaP	prostate:	n/a
34	chr14:21424117-21424167	PFSK-1	brain:	n/a
35	chr14:21424117-21424167	HUVEC	blood vessel:	n/a
36	chr14:21424117-21424167	SK-N-SH_RA	brain:	n/a
37	chr14:21424117-21424167	HAEpiC	amniotic membrane:	n/a
38	chr14:21424117-21424167	SKMC	muscle:	n/a
39	chr14:21424117-21424167	HIPEpiC	eye:	n/a
40	chr14:21424117-21424167	GM12892	blood:	n/a
41	chr14:21424117-21424167	HRCEpiC	kidney:	n/a
42	chr14:21424117-21424167	H1-hESC	embryonic stem cell:	embryo
43	chr14:21424117-21424167	BJ	skin:	n/a
44	chr14:21424117-21424167	HEEpiC	esophagus:	n/a
45	chr14:21424117-21424167	ECC-1	luminal epithelium:	n/a
46	chr14:21424117-21424167	BE2_C	brain:	n/a
47	chr14:21424117-21424167	GM06990	blood:	n/a
48	chr14:21424117-21424167	T-47D	breast:	n/a
49	chr14:21424117-21424167	HRPEpiC	eye:	n/a
50	chr14:21424117-21424167	HNPCEpiC	eye:	n/a

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
RN7SL189P	TF binding region
RN7SL189P	CpG island

Extended variants
information (count: 122 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202221776	chr14:21424056-21424057	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs143453244	chr14:21424065-21424066	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs185582106	chr14:21424077-21424078	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs148048310	chr14:21424089-21424090	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200694912	chr14:21424098-21424099	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs559400945	chr14:21424116-21424117	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs141786181	chr14:21424117-21424118	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs559208313	chr14:21424142-21424143	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528283932	chr14:21424191-21424192	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376786690	chr14:21424203-21424204	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs34659060	chr14:21424213-21424214	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs61729745	chr14:21424221-21424222	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs8012890	chr14:21424227-21424228	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs8012891	chr14:21424230-21424231	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142822260	chr14:21424241-21424242	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs550968362	chr14:21424248-21424249	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs199746668	chr14:21424307-21424308	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs147476821	chr14:21424308-21424309	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs368055207	chr14:21424324-21424325	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs139998613	chr14:21424325-21424326	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs536680369	chr14:21424331-21424332	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs144529882	chr14:21424361-21424362	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs149973422	chr14:21424363-21424364	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs8013670	chr14:21424365-21424366	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs148729197	chr14:21424370-21424371	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs142450661	chr14:21424383-21424384	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs558888633	chr14:21424388-21424389	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200146065	chr14:21424395-21424396	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs146887874	chr14:21424396-21424397	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201480799	chr14:21424402-21424403	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs372249512	chr14:21424410-21424411	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530715664	chr14:21424425-21424426	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs374805523	chr14:21424465-21424466	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs10145713	chr14:21424507-21424508	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115440601	chr14:21424553-21424554	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs559387444	chr14:21424583-21424584	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs8012369	chr14:21424613-21424614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55941910	chr14:21424646-21424647	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545144120	chr14:21424668-21424669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564956026	chr14:21424687-21424688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530793858	chr14:21424690-21424691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12323805	chr14:21424718-21424719	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561195735	chr14:21424828-21424829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8013921	chr14:21424866-21424867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117609024	chr14:21424870-21424871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546718462	chr14:21424885-21424886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566910342	chr14:21424903-21424904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8016739	chr14:21424907-21424908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538778481	chr14:21424913-21424914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374774197	chr14:21424916-21424917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21422400-21425400	Enhancers	Fetal Thymus	thymus
2	chr14:21422600-21424400	Enhancers	HepG2	liver
3	chr14:21423000-21424600	Active TSS	Brain Hippocampus Middle	brain
4	chr14:21423000-21424600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr14:21423200-21424200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr14:21423200-21424200	Enhancers	Primary hematopoietic stem cells	blood
7	chr14:21423200-21424200	Enhancers	Thymus	Thymus
8	chr14:21423400-21424400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:21423600-21426400	Enhancers	Primary T cells from cord blood	blood
10	chr14:21423800-21424800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr14:21423800-21424800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr14:21424000-21424800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:21424000-21425600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr14:21424200-21424800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr14:21424200-21425200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr14:21424400-21429200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:21424600-21424800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr14:21424600-21429000	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:21424800-21427000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:21424800-21428000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:21425200-21425400	Enhancers	K562	blood
22	chr14:21425200-21426800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr14:21425600-21428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:21426400-21429200	Weak transcription	Primary T cells from cord blood	blood
25	chr14:21426800-21428200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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