Variant report

Variant	nsv977481
Chromosome Location	chr14:68081887-68084327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:68082060-68082210	HCM	heart:	n/a	n/a
2	POLR2A	chr14:68082467-68082527	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF384	chr14:68082798-68082949	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:68082575-68082625	AG04450	lung:	fetal
2	chr14:68082575-68082625	Caco-2	colon:	n/a
3	chr14:68082575-68082625	GM06990	blood:	n/a
4	chr14:68082575-68082625	GM19239	blood:	n/a
5	chr14:68082575-68082625	IMR90	lung:	fetal
6	chr14:68082575-68082625	GM12878	blood:	n/a
7	chr14:68082575-68082625	NT2-D1	testis:	n/a
8	chr14:68082575-68082625	SAEC	small airway:	n/a
9	chr14:68082575-68082625	AG04449	skin:	fetal
10	chr14:68082575-68082625	GM12891	blood:	n/a
11	chr14:68082575-68082625	CMK	blood:	n/a
12	chr14:68082575-68082625	MCF-7	breast:	n/a
13	chr14:68082575-68082625	NH-A	brain:	n/a
14	chr14:68082575-68082625	HCT-116	colon:	n/a
15	chr14:68082575-68082625	SK-N-MC	brain:	n/a
16	chr14:68082575-68082625	GM12892	blood:	n/a
17	chr14:68082575-68082625	BE2_C	brain:	n/a
18	chr14:68082575-68082625	ProgFib	skin:	n/a
19	chr14:68082575-68082625	AG09309	skin:	n/a
20	chr14:68082575-68082625	HAEpiC	amniotic membrane:	n/a
21	chr14:68082575-68082625	HCM	heart:	n/a
22	chr14:68082575-68082625	HRCEpiC	kidney:	n/a
23	chr14:68082575-68082625	U87	brain:	n/a
24	chr14:68082575-68082625	HNPCEpiC	eye:	n/a
25	chr14:68082575-68082625	NB4	blood:	n/a
26	chr14:68082575-68082625	HRPEpiC	eye:	n/a
27	chr14:68082575-68082625	T-47D	breast:	n/a
28	chr14:68082575-68082625	HUVEC	blood vessel:	n/a
29	chr14:68082575-68082625	AG09319	gingival:	n/a
30	chr14:68082575-68082625	HIPEpiC	eye:	n/a
31	chr14:68082575-68082625	AoSMC	blood vessel:	n/a
32	chr14:68082575-68082625	PFSK-1	brain:	n/a
33	chr14:68082575-68082625	SKMC	muscle:	n/a
34	chr14:68082575-68082625	ovcar-3	ovarian:	n/a
35	chr14:68082575-68082625	HRE	kidney:	n/a
36	chr14:68082575-68082625	Hepatocyte	liver:	n/a
37	chr14:68082575-68082625	A549	lung:	n/a
38	chr14:68082575-68082625	HCF	heart:	n/a
39	chr14:68082575-68082625	PrEC	prostate:	n/a
40	chr14:68082575-68082625	HMEC	breast:	n/a
41	chr14:68082575-68082625	HCPEpiC	choroid plexus:	n/a
42	chr14:68082575-68082625	Hela-S3	cervix:	n/a
43	chr14:68082575-68082625	HEK293	kidney:	embryo
44	chr14:68082575-68082625	LNCaP	prostate:	n/a
45	chr14:68082575-68082625	SK-N-SH	brain:	n/a
46	chr14:68082575-68082625	SK-N-SH_RA	brain:	n/a
47	chr14:68082575-68082625	H1-hESC	embryonic stem cell:	embryo
48	chr14:68082575-68082625	AG10803	skin:	n/a
49	chr14:68082575-68082625	HPAEpiC	pulmonary alveolar:	n/a
50	chr14:68082575-68082625	HepG2	liver:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68081217..68082953-chr14:68085060..68086622,2	K562	blood:
2	chr14:68083940..68088003-chr14:68160289..68162917,5	K562	blood:
3	chr14:68075056..68078713-chr14:68081163..68083960,3	K562	blood:
4	chr14:68082006..68084010-chr14:68160991..68163508,2	MCF-7	breast:
5	chr14:68065568..68068491-chr14:68083250..68085597,2	K562	blood:
6	chr14:68080492..68083154-chr14:68084314..68086467,2	K562	blood:
7	chr14:68084183..68087028-chr14:68160218..68163936,5	MCF-7	breast:
8	chr14:68083940..68087212-chr14:68160289..68163699,4	K562	blood:

No data

Variant related genes	Relation type
ARG2	TF binding region
ENSG00000259648	TF binding region
ENSG00000201529	TF binding region
ARG2	CpG island
ENSG00000259648	CpG island
ENSG00000201529	CpG island
ENSG00000100564	chromatin interactions
ENSG00000259502	chromatin interactions
ENSG00000081181	chromatin interactions
ENSG00000259648	chromatin interactions
ENSG00000072042	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557717600	chr14:68081897-68081898	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368879633	chr14:68081937-68081938	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537149049	chr14:68082020-68082021	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs143595880	chr14:68082031-68082032	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs570260752	chr14:68082035-68082036	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs373626972	chr14:68082074-68082075	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs184432437	chr14:68082078-68082079	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs575746293	chr14:68082100-68082101	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs17104495	chr14:68082103-68082104	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564378299	chr14:68082136-68082137	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs145434867	chr14:68082218-68082219	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs373215044	chr14:68082310-68082311	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs545114602	chr14:68082331-68082332	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs7151920	chr14:68082337-68082338	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs530766640	chr14:68082344-68082345	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs2145467	chr14:68082355-68082356	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12100644	chr14:68082375-68082376	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553850378	chr14:68082384-68082385	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs528680601	chr14:68082408-68082409	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs368595159	chr14:68082413-68082414	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs571878900	chr14:68082425-68082426	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs532839282	chr14:68082454-68082455	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs10134923	chr14:68082484-68082485	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs78934967	chr14:68082489-68082490	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs537012226	chr14:68082521-68082522	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs555524280	chr14:68082553-68082554	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs567348935	chr14:68082568-68082569	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs377602963	chr14:68082572-68082573	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs374774207	chr14:68082573-68082574	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs553124627	chr14:68082605-68082606	Weak transcription Enhancers	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs190204189	chr14:68082653-68082654	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs146565313	chr14:68082706-68082707	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs370176971	chr14:68082789-68082790	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs545289305	chr14:68082816-68082817	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs556796836	chr14:68082842-68082843	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs375963361	chr14:68082888-68082889	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs78984048	chr14:68082933-68082934	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs78928998	chr14:68082934-68082935	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs528084033	chr14:68082944-68082945	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs398057192	chr14:68082945-68082946	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs397960376	chr14:68082946-68082947	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs201244591	chr14:68082947-68082948	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs575252457	chr14:68082974-68082975	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs941706	chr14:68082978-68082979	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs561072203	chr14:68083013-68083014	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs181459351	chr14:68083015-68083016	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs143966059	chr14:68083048-68083049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs565480284	chr14:68083076-68083077	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs186572235	chr14:68083080-68083081	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs372848797	chr14:68083081-68083082	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
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
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68076800-68086200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:68081800-68082400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:68082000-68082800	Enhancers	NHEK	skin
4	chr14:68082200-68082800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:68082400-68086000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:68082800-68085600	Weak transcription	NHEK	skin
7	chr14:68082800-68085800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:68083400-68085600	Weak transcription	Fetal Muscle Leg	muscle

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