Variant report

Variant	nsv976319
Chromosome Location	chr14:22218268-22220474
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:0)
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	CEBPB	chr14:22220403-22220709	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr14:22220415-22220731	HepG2	liver:	n/a	n/a
3	E2F4	chr14:22219753-22219814	MCF10A-Er-Src	breast:	n/a	n/a
4	JUN	chr14:22220457-22220684	HepG2	liver:	n/a	n/a
5	JUND	chr14:22220423-22220710	HepG2	liver:	n/a	n/a
6	MAZ	chr14:22219583-22219623	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:22218494-22218544	ovcar-3	ovarian:	n/a
2	chr14:22218494-22218544	K562	blood:	n/a
3	chr14:22218494-22218544	SK-N-MC	brain:	n/a
4	chr14:22218494-22218544	PFSK-1	brain:	n/a
5	chr14:22218494-22218544	Hela-S3	cervix:	n/a
6	chr14:22218494-22218544	HUVEC	blood vessel:	n/a
7	chr14:22218494-22218544	GM12878	blood:	n/a
8	chr14:22218494-22218544	PANC-1	pancreas:	n/a
9	chr14:22218494-22218544	SK-N-SH	brain:	n/a
10	chr14:22218494-22218544	HRCEpiC	kidney:	n/a
11	chr14:22218494-22218544	SAEC	small airway:	n/a
12	chr14:22218494-22218544	HCT-116	colon:	n/a
13	chr14:22218494-22218544	HCPEpiC	choroid plexus:	n/a
14	chr14:22218494-22218544	U87	brain:	n/a
15	chr14:22218494-22218544	MCF10A-Er-Src	breast:	n/a
16	chr14:22218494-22218544	BJ	skin:	n/a
17	chr14:22218494-22218544	GM12892	blood:	n/a
18	chr14:22218494-22218544	CMK	blood:	n/a
19	chr14:22218494-22218544	PrEC	prostate:	n/a
20	chr14:22218494-22218544	AG10803	skin:	n/a
21	chr14:22218494-22218544	NHBE	bronchial:	n/a
22	chr14:22218494-22218544	HRE	kidney:	n/a
23	chr14:22218494-22218544	AG09319	gingival:	n/a
24	chr14:22218494-22218544	AG09309	skin:	n/a
25	chr14:22218494-22218544	NHDF-neo	bronchial:	n/a
26	chr14:22218494-22218544	HAEpiC	amniotic membrane:	n/a
27	chr14:22218494-22218544	HepG2	liver:	n/a
28	chr14:22218494-22218544	RPTEC	kidney:	n/a
29	chr14:22218494-22218544	HNPCEpiC	eye:	n/a
30	chr14:22218494-22218544	SKMC	muscle:	n/a
31	chr14:22218494-22218544	H1-hESC	embryonic stem cell:	embryo
32	chr14:22218494-22218544	HCM	heart:	n/a
33	chr14:22218494-22218544	HIPEpiC	eye:	n/a
34	chr14:22218494-22218544	MCF-7	breast:	n/a
35	chr14:22218494-22218544	HCF	heart:	n/a
36	chr14:22218494-22218544	HEK293	kidney:	embryo
37	chr14:22218494-22218544	LNCaP	prostate:	n/a
38	chr14:22218494-22218544	HMEC	breast:	n/a
39	chr14:22218494-22218544	ProgFib	skin:	n/a
40	chr14:22218494-22218544	NH-A	brain:	n/a
41	chr14:22218494-22218544	ECC-1	luminal epithelium:	n/a
42	chr14:22218494-22218544	IMR90	lung:	fetal
43	chr14:22218494-22218544	A549	lung:	n/a
44	chr14:22218494-22218544	GM12891	blood:	n/a
45	chr14:22218494-22218544	GM19239	blood:	n/a
46	chr14:22218494-22218544	T-47D	breast:	n/a
47	chr14:22218494-22218544	AG04450	lung:	fetal
48	chr14:22218494-22218544	NT2-D1	testis:	n/a
49	chr14:22218494-22218544	SK-N-SH_RA	brain:	n/a
50	chr14:22218494-22218544	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
RPL4P1	TF binding region
RPL4P1	CpG island

Extended variants
information (count: 68 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543284668	chr14:22218298-22218299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191827500	chr14:22218315-22218316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2874142	chr14:22218320-22218321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542600542	chr14:22218403-22218404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559328345	chr14:22218406-22218407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184062584	chr14:22218446-22218447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187421907	chr14:22218450-22218451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145748500	chr14:22218452-22218453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148881795	chr14:22218466-22218467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559007985	chr14:22218485-22218486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571077648	chr14:22218530-22218531	Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs563370291	chr14:22218578-22218579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571856952	chr14:22218838-22218839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551636228	chr14:22218841-22218842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547546677	chr14:22218842-22218843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76276447	chr14:22218867-22218868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556776373	chr14:22218876-22218877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573753447	chr14:22218920-22218921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554585301	chr14:22218947-22218948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192233570	chr14:22219011-22219012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552923037	chr14:22219020-22219021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369321668	chr14:22219030-22219031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11628503	chr14:22219042-22219043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376087080	chr14:22219080-22219081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573207705	chr14:22219173-22219174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367964861	chr14:22219228-22219229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575964573	chr14:22219237-22219238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545108678	chr14:22219239-22219240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565553265	chr14:22219248-22219249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575895972	chr14:22219318-22219319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544783751	chr14:22219323-22219324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561475669	chr14:22219335-22219336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543380070	chr14:22219371-22219372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4982494	chr14:22219425-22219426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs549115307	chr14:22219426-22219427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559523846	chr14:22219482-22219483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143531266	chr14:22219483-22219484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374726943	chr14:22219490-22219491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374421118	chr14:22219573-22219574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551134950	chr14:22219626-22219627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532409988	chr14:22219633-22219634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367588624	chr14:22219655-22219656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536953548	chr14:22219721-22219722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550311378	chr14:22219747-22219748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75959515	chr14:22219773-22219774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148062422	chr14:22219785-22219786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553037117	chr14:22219789-22219790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372248873	chr14:22219816-22219817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573286415	chr14:22219838-22219839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371865589	chr14:22219924-22219925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	21364760	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22217600-22218600	Enhancers	Fetal Thymus	thymus
2	chr14:22218800-22219000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:22219000-22228600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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