Variant report

Variant	nsv976352
Chromosome Location	chr14:70924060-70926861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:70925425-70925487	GM10248	blood:	n/a	n/a
2	CTCF	chr14:70924146-70924154	MCF-7	breast:	n/a	n/a
3	E2F4	chr14:70926538-70926629	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr14:70924060-70924193	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:70924467-70924668	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:70924012-70924196	A549	lung:	n/a	n/a
7	POLR2A	chr14:70924120-70924185	Gliobla	brain:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70924294-70924344	HRCEpiC	kidney:	n/a
2	chr14:70924294-70924344	HIPEpiC	eye:	n/a
3	chr14:70924204-70924254	SK-N-MC	brain:	n/a
4	chr14:70924294-70924344	HPAEpiC	pulmonary alveolar:	n/a
5	chr14:70924204-70924254	GM12878	blood:	n/a
6	chr14:70924294-70924344	AoSMC	blood vessel:	n/a
7	chr14:70924204-70924254	SK-N-SH_RA	brain:	n/a
8	chr14:70924204-70924254	HEEpiC	esophagus:	n/a
9	chr14:70924294-70924344	ECC-1	luminal epithelium:	n/a
10	chr14:70924294-70924344	K562	blood:	n/a
11	chr14:70924204-70924254	HMEC	breast:	n/a
12	chr14:70924294-70924344	Hela-S3	cervix:	n/a
13	chr14:70924294-70924344	A549	lung:	n/a
14	chr14:70924204-70924254	A549	lung:	n/a
15	chr14:70924204-70924254	IMR90	lung:	fetal
16	chr14:70924204-70924254	HCT-116	colon:	n/a
17	chr14:70924294-70924344	PANC-1	pancreas:	n/a
18	chr14:70924204-70924254	HAEpiC	amniotic membrane:	n/a
19	chr14:70924204-70924254	GM06990	blood:	n/a
20	chr14:70924204-70924254	LNCaP	prostate:	n/a
21	chr14:70924204-70924254	Caco-2	colon:	n/a
22	chr14:70924204-70924254	HRCEpiC	kidney:	n/a
23	chr14:70924204-70924254	GM12891	blood:	n/a
24	chr14:70924294-70924344	Hepatocyte	liver:	n/a
25	chr14:70924294-70924344	SKMC	muscle:	n/a
26	chr14:70924294-70924344	GM12891	blood:	n/a
27	chr14:70924294-70924344	Jurkat	blood:	n/a
28	chr14:70924294-70924344	HEK293	kidney:	embryo
29	chr14:70924294-70924344	AG10803	skin:	n/a
30	chr14:70924294-70924344	NH-A	brain:	n/a
31	chr14:70924204-70924254	BJ	skin:	n/a
32	chr14:70924294-70924344	HMEC	breast:	n/a
33	chr14:70924294-70924344	HCF	heart:	n/a
34	chr14:70924204-70924254	GM12892	blood:	n/a
35	chr14:70924294-70924344	HL-60	blood:	n/a
36	chr14:70924204-70924254	AG04450	lung:	fetal
37	chr14:70924294-70924344	HRPEpiC	eye:	n/a
38	chr14:70924204-70924254	HCF	heart:	n/a
39	chr14:70924204-70924254	HRPEpiC	eye:	n/a
40	chr14:70924294-70924344	HRE	kidney:	n/a
41	chr14:70924204-70924254	HEK293	kidney:	embryo
42	chr14:70924294-70924344	SAEC	small airway:	n/a
43	chr14:70924204-70924254	HepG2	liver:	n/a
44	chr14:70924294-70924344	NHBE	bronchial:	n/a
45	chr14:70924204-70924254	SAEC	small airway:	n/a
46	chr14:70924204-70924254	ProgFib	skin:	n/a
47	chr14:70924204-70924254	AoSMC	blood vessel:	n/a
48	chr14:70924294-70924344	PFSK-1	brain:	n/a
49	chr14:70924294-70924344	CMK	blood:	n/a
50	chr14:70924294-70924344	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70926329..70927195-chr8:17178343..17178945,2	Hela-S3	cervix:
2	chr14:70921254..70923953-chr14:70924960..70926832,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM21-1	chr14:70924066-70924555	ENSG00000258801

No data

Variant related genes	Relation type
ADAM21	TF binding region
ADAM21	CpG island

Extended variants
information (count: 179 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187012280	chr14:70924071-70924072	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs4143920	chr14:70924072-70924073	Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs545760078	chr14:70924091-70924092	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs564163786	chr14:70924133-70924134	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs576058920	chr14:70924165-70924166	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs371370193	chr14:70924168-70924169	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs543497736	chr14:70924201-70924202	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs113228662	chr14:70924204-70924205	Weak transcription	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs529462771	chr14:70924232-70924233	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs3751520	chr14:70924237-70924238	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs3751521	chr14:70924249-70924250	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs137943475	chr14:70924262-70924263	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs76775264	chr14:70924286-70924287	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs112060847	chr14:70924294-70924295	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs367590998	chr14:70924316-70924317	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs191484875	chr14:70924321-70924322	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs199920662	chr14:70924335-70924336	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs371729262	chr14:70924336-70924337	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs569652235	chr14:70924358-70924359	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs139600813	chr14:70924364-70924365	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs113413787	chr14:70924367-70924368	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs149756061	chr14:70924412-70924413	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs140271701	chr14:70924413-70924414	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs200334109	chr14:70924422-70924423	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs553149454	chr14:70924432-70924433	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs150381704	chr14:70924433-70924434	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs200420118	chr14:70924441-70924442	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs58247196	chr14:70924450-70924451	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs3751523	chr14:70924462-70924463	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147685072	chr14:70924471-70924472	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs576018766	chr14:70924484-70924485	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs58945644	chr14:70924486-70924487	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs142458441	chr14:70924489-70924490	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs367949869	chr14:70924492-70924493	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs543846332	chr14:70924493-70924494	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs8010994	chr14:70924501-70924502	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs144574931	chr14:70924502-70924503	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs3751524	chr14:70924507-70924508	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574090912	chr14:70924513-70924514	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs151251259	chr14:70924517-70924518	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs371816690	chr14:70924520-70924521	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs79958245	chr14:70924542-70924543	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs202170288	chr14:70924553-70924554	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs61979126	chr14:70924558-70924559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs3829452	chr14:70924566-70924567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs3829453	chr14:70924567-70924568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs72735759	chr14:70924602-70924603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564015119	chr14:70924605-70924606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530468439	chr14:70924606-70924607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138262361	chr14:70924613-70924614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70910600-70955600	Weak transcription	Left Ventricle	heart
2	chr14:70917000-70940200	Weak transcription	Aorta	Aorta
3	chr14:70921800-70940000	Weak transcription	Psoas Muscle	Psoas
4	chr14:70922000-70927200	Weak transcription	HSMMtube	muscle
5	chr14:70925400-70925800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:70925400-70925800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:70925800-70928800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:70925800-70929000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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