Variant report

Variant	nsv526740
Chromosome Location	chr3:24143273-24143497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:24143333-24143618	Hela-S3	cervix:	n/a	n/a
2	FOS	chr3:24143265-24143530	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr3:24143212-24143621	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr3:24143392-24143450	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr3:24143238-24143618	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr3:24143319-24143705	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr3:24143264-24143649	MCF10A-Er-Src	breast:	n/a	chr3:24143428-24143439
8	STAT3	chr3:24143266-24143619	MCF10A-Er-Src	breast:	n/a	chr3:24143428-24143439
9	STAT3	chr3:24143277-24143425	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr3:24143245-24143600	MCF10A-Er-Src	breast:	n/a	chr3:24143428-24143439

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:24143257-24143307	Hepatocyte	liver:	n/a
2	chr3:24143257-24143307	Caco-2	colon:	n/a
3	chr3:24143257-24143307	SK-N-SH_RA	brain:	n/a
4	chr3:24143257-24143307	ovcar-3	ovarian:	n/a
5	chr3:24143257-24143307	AG09319	gingival:	n/a
6	chr3:24143257-24143307	AG10803	skin:	n/a
7	chr3:24143257-24143307	NH-A	brain:	n/a
8	chr3:24143257-24143307	HRE	kidney:	n/a
9	chr3:24143257-24143307	HepG2	liver:	n/a
10	chr3:24143257-24143307	HRPEpiC	eye:	n/a
11	chr3:24143257-24143307	U87	brain:	n/a
12	chr3:24143257-24143307	RPTEC	kidney:	n/a
13	chr3:24143257-24143307	SKMC	muscle:	n/a
14	chr3:24143257-24143307	A549	lung:	n/a
15	chr3:24143257-24143307	HAEpiC	amniotic membrane:	n/a
16	chr3:24143257-24143307	HNPCEpiC	eye:	n/a
17	chr3:24143257-24143307	GM12892	blood:	n/a
18	chr3:24143257-24143307	K562	blood:	n/a
19	chr3:24143257-24143307	Jurkat	blood:	n/a
20	chr3:24143257-24143307	AG04450	lung:	fetal
21	chr3:24143257-24143307	ECC-1	luminal epithelium:	n/a
22	chr3:24143257-24143307	HIPEpiC	eye:	n/a
23	chr3:24143257-24143307	AG09309	skin:	n/a
24	chr3:24143257-24143307	HPAEpiC	pulmonary alveolar:	n/a
25	chr3:24143257-24143307	ProgFib	skin:	n/a
26	chr3:24143257-24143307	HCT-116	colon:	n/a
27	chr3:24143257-24143307	PFSK-1	brain:	n/a
28	chr3:24143257-24143307	PANC-1	pancreas:	n/a
29	chr3:24143257-24143307	GM19239	blood:	n/a
30	chr3:24143257-24143307	IMR90	lung:	fetal
31	chr3:24143257-24143307	AG04449	skin:	fetal
32	chr3:24143257-24143307	GM12891	blood:	n/a
33	chr3:24143257-24143307	SK-N-MC	brain:	n/a
34	chr3:24143257-24143307	SK-N-SH	brain:	n/a
35	chr3:24143257-24143307	NHDF-neo	bronchial:	n/a
36	chr3:24143257-24143307	H1-hESC	embryonic stem cell:	embryo
37	chr3:24143257-24143307	HEEpiC	esophagus:	n/a
38	chr3:24143257-24143307	HL-60	blood:	n/a
39	chr3:24143257-24143307	LNCaP	prostate:	n/a
40	chr3:24143257-24143307	HRCEpiC	kidney:	n/a
41	chr3:24143257-24143307	T-47D	breast:	n/a
42	chr3:24143257-24143307	Hela-S3	cervix:	n/a
43	chr3:24143257-24143307	CMK	blood:	n/a
44	chr3:24143257-24143307	PrEC	prostate:	n/a
45	chr3:24143257-24143307	AoSMC	blood vessel:	n/a
46	chr3:24143257-24143307	HEK293	kidney:	embryo
47	chr3:24143257-24143307	BE2_C	brain:	n/a
48	chr3:24143257-24143307	BJ	skin:	n/a
49	chr3:24143257-24143307	HCF	heart:	n/a
50	chr3:24143257-24143307	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:24141927..24144068-chr3:24144999..24146572,2	K562	blood:
2	chr3:24142494..24143999-chr3:24147403..24150339,2	K562	blood:

No data

Variant related genes	Relation type
NPM1P23	TF binding region
NPM1P23	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2360958	chr3:24143273-24143274	Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2063481	chr3:24143301-24143302	Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs111895440	chr3:24143306-24143307	Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs149721911	chr3:24143337-24143338	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs149147023	chr3:24143347-24143348	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533014213	chr3:24143348-24143349	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs34167415	chr3:24143349-24143350	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs397988950	chr3:24143363-24143364	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs367844832	chr3:24143369-24143370	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs558740828	chr3:24143425-24143426	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs577221952	chr3:24143435-24143436	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs34003112	chr3:24143444-24143445	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550953606	chr3:24143462-24143463	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2063480	chr3:24143497-24143498	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24141600-24144000	Enhancers	Fetal Stomach	stomach
2	chr3:24141800-24144000	Enhancers	Fetal Lung	lung
3	chr3:24141800-24144000	Enhancers	Stomach Smooth Muscle	stomach
4	chr3:24142000-24143600	Enhancers	NHLF	lung
5	chr3:24142000-24144000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:24142000-24144400	Enhancers	NHDF-Ad	bronchial
7	chr3:24142200-24143800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:24142200-24144000	Enhancers	HSMM	muscle
9	chr3:24142400-24144000	Enhancers	Hela-S3	cervix
10	chr3:24142800-24143400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:24142800-24143400	Enhancers	Psoas Muscle	Psoas
12	chr3:24142800-24143800	Enhancers	HSMMtube	muscle
13	chr3:24142800-24144000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:24142800-24144200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:24142800-24144400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:24143000-24143400	Enhancers	Liver	Liver
17	chr3:24143000-24143400	Enhancers	A549	lung
18	chr3:24143000-24143800	Enhancers	Esophagus	oesophagus
19	chr3:24143000-24143800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr3:24143000-24144000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr3:24143000-24144000	Enhancers	HMEC	breast
22	chr3:24143000-24144200	Enhancers	NHEK	skin
23	chr3:24143200-24143600	Enhancers	HepG2	liver
24	chr3:24143200-24143800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr3:24143200-24143800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:24143200-24143800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:24143400-24144000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:24143400-24144200	Weak transcription	Psoas Muscle	Psoas

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