Variant report

Variant	nsv967043
Chromosome Location	chr3:99944303-99944955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:99944758-99945082	A549	lung:	n/a	n/a
2	CEBPB	chr3:99944603-99945094	HepG2	liver:	n/a	n/a
3	CEBPB	chr3:99944601-99945082	HepG2	liver:	n/a	n/a
4	CEBPB	chr3:99944770-99945039	HepG2	liver:	n/a	n/a
5	CEBPB	chr3:99944786-99945059	K562	blood:	n/a	n/a
6	CEBPB	chr3:99944686-99945100	HepG2	liver:	n/a	n/a
7	CTCF	chr3:99944474-99944515	Fibrobl	skin:	n/a	n/a
8	EP300	chr3:99944894-99945045	HepG2	liver:	n/a	n/a
9	FOXA2	chr3:99944649-99944925	HepG2	liver:	n/a	n/a
10	MAX	chr3:99944880-99944888	HepG2	liver:	n/a	n/a
11	POLR2A	chr3:99944236-99944329	A549	lung:	n/a	n/a
12	POLR2A	chr3:99944227-99944357	A549	lung:	n/a	n/a
13	POLR2A	chr3:99944088-99944306	Hela-S3	cervix:	n/a	n/a
14	SMC3	chr3:99944795-99944961	HepG2	liver:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:99944324-99944374	RPTEC	kidney:	n/a
2	chr3:99944461-99944511	LNCaP	prostate:	n/a
3	chr3:99944331-99944381	AG04450	lung:	fetal
4	chr3:99944324-99944374	H1-hESC	embryonic stem cell:	embryo
5	chr3:99944461-99944511	NHDF-neo	bronchial:	n/a
6	chr3:99944324-99944374	IMR90	lung:	fetal
7	chr3:99944324-99944374	HCPEpiC	choroid plexus:	n/a
8	chr3:99944461-99944511	GM19239	blood:	n/a
9	chr3:99944331-99944381	ECC-1	luminal epithelium:	n/a
10	chr3:99944324-99944374	ProgFib	skin:	n/a
11	chr3:99944324-99944374	HepG2	liver:	n/a
12	chr3:99944461-99944511	HRE	kidney:	n/a
13	chr3:99944324-99944374	NHBE	bronchial:	n/a
14	chr3:99944324-99944374	SAEC	small airway:	n/a
15	chr3:99944461-99944511	GM12891	blood:	n/a
16	chr3:99944324-99944374	HIPEpiC	eye:	n/a
17	chr3:99944331-99944381	GM19239	blood:	n/a
18	chr3:99944331-99944381	HNPCEpiC	eye:	n/a
19	chr3:99944461-99944511	PFSK-1	brain:	n/a
20	chr3:99944461-99944511	K562	blood:	n/a
21	chr3:99944331-99944381	HRPEpiC	eye:	n/a
22	chr3:99944331-99944381	BE2_C	brain:	n/a
23	chr3:99944461-99944511	GM12892	blood:	n/a
24	chr3:99944331-99944381	HMEC	breast:	n/a
25	chr3:99944461-99944511	SK-N-SH_RA	brain:	n/a
26	chr3:99944324-99944374	HEK293	kidney:	embryo
27	chr3:99944461-99944511	H1-hESC	embryonic stem cell:	embryo
28	chr3:99944324-99944374	HCM	heart:	n/a
29	chr3:99944461-99944511	Jurkat	blood:	n/a
30	chr3:99944461-99944511	NHBE	bronchial:	n/a
31	chr3:99944461-99944511	ovcar-3	ovarian:	n/a
32	chr3:99944324-99944374	GM12878	blood:	n/a
33	chr3:99944324-99944374	AG04449	skin:	fetal
34	chr3:99944324-99944374	Jurkat	blood:	n/a
35	chr3:99944461-99944511	Caco-2	colon:	n/a
36	chr3:99944331-99944381	HPAEpiC	pulmonary alveolar:	n/a
37	chr3:99944461-99944511	AG10803	skin:	n/a
38	chr3:99944324-99944374	GM06990	blood:	n/a
39	chr3:99944331-99944381	GM12891	blood:	n/a
40	chr3:99944461-99944511	MCF10A-Er-Src	breast:	n/a
41	chr3:99944461-99944511	AG09309	skin:	n/a
42	chr3:99944331-99944381	K562	blood:	n/a
43	chr3:99944331-99944381	ovcar-3	ovarian:	n/a
44	chr3:99944461-99944511	PrEC	prostate:	n/a
45	chr3:99944461-99944511	SK-N-MC	brain:	n/a
46	chr3:99944331-99944381	HIPEpiC	eye:	n/a
47	chr3:99944461-99944511	NH-A	brain:	n/a
48	chr3:99944324-99944374	AG09309	skin:	n/a
49	chr3:99944324-99944374	A549	lung:	n/a
50	chr3:99944461-99944511	HRPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:99944805..99946806-chr3:99979646..99982271,2	K562	blood:
2	chr3:99939496..99942041-chr3:99942965..99946163,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238377	TF binding region
ENSG00000238377	CpG island
ENSG00000036054	chromatin interactions
ENSG00000238377	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561587820	chr3:99944304-99944305	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545053413	chr3:99944321-99944322	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531875239	chr3:99944323-99944324	Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544226437	chr3:99944334-99944335	Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562344473	chr3:99944343-99944344	Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs533090510	chr3:99944364-99944365	Enhancers	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1684244	chr3:99944376-99944377	Enhancers	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs17213695	chr3:99944381-99944382	Enhancers	CpG island Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566185983	chr3:99944392-99944393	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527504949	chr3:99944404-99944405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548734499	chr3:99944436-99944437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567587049	chr3:99944468-99944469	Weak transcription Enhancers	CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572440790	chr3:99944478-99944479	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537728406	chr3:99944496-99944497	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556566453	chr3:99944528-99944529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs571540249	chr3:99944546-99944547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538994419	chr3:99944566-99944567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554309927	chr3:99944582-99944583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs35805111	chr3:99944634-99944635	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139888195	chr3:99944636-99944637	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555183683	chr3:99944681-99944682	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs59233020	chr3:99944694-99944695	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs543750688	chr3:99944709-99944710	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565534871	chr3:99944711-99944712	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560344081	chr3:99944724-99944725	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368660135	chr3:99944727-99944728	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs376582140	chr3:99944759-99944760	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183801943	chr3:99944760-99944761	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187895316	chr3:99944767-99944768	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527371718	chr3:99944794-99944795	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548794696	chr3:99944835-99944836	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs567344041	chr3:99944888-99944889	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs146199244	chr3:99944892-99944893	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs193007033	chr3:99944907-99944908	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs139114946	chr3:99944920-99944921	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs183753673	chr3:99944941-99944942	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99944200-99944400	Enhancers	Placenta	Placenta
2	chr3:99944400-99945200	Weak transcription	Placenta	Placenta
3	chr3:99944400-99945400	Enhancers	HepG2	liver
4	chr3:99944600-99945600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:99944600-99946600	Enhancers	K562	blood
6	chr3:99944800-99946400	Enhancers	Psoas Muscle	Psoas
7	chr3:99944800-99946600	Enhancers	HSMMtube	muscle
8	chr3:99944800-99946800	Enhancers	NHDF-Ad	bronchial
9	chr3:99944800-99946800	Enhancers	NHLF	lung

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