Variant report

Variant	nsv237513
Chromosome Location	chr3:119496924-119498671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr3:119498532-119498788	K562	blood:	n/a	n/a
2	MAFK	chr3:119498550-119498876	K562	blood:	n/a	n/a
3	MAX	chr3:119498080-119498239	NB4	blood:	n/a	n/a
4	MYC	chr3:119498068-119498243	NB4	blood:	n/a	n/a
5	POLR2A	chr3:119496920-119496928	MCF10A-Er-Src	breast:	n/a	n/a
6	USF1	chr3:119498057-119498283	K562	blood:	n/a	n/a
7	ZNF384	chr3:119498667-119498727	GM12878	blood:	n/a	n/a
8	ZNF384	chr3:119498476-119499037	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:119498036-119498086	Hela-S3	cervix:	n/a
2	chr3:119498036-119498086	HIPEpiC	eye:	n/a
3	chr3:119498036-119498086	GM12892	blood:	n/a
4	chr3:119498036-119498086	SK-N-SH	brain:	n/a
5	chr3:119498036-119498086	HPAEpiC	pulmonary alveolar:	n/a
6	chr3:119498036-119498086	HL-60	blood:	n/a
7	chr3:119498036-119498086	H1-hESC	embryonic stem cell:	embryo
8	chr3:119498036-119498086	MCF10A-Er-Src	breast:	n/a
9	chr3:119498036-119498086	HEEpiC	esophagus:	n/a
10	chr3:119498036-119498086	HEK293	kidney:	embryo
11	chr3:119498036-119498086	GM06990	blood:	n/a
12	chr3:119498036-119498086	PFSK-1	brain:	n/a
13	chr3:119498036-119498086	PrEC	prostate:	n/a
14	chr3:119498036-119498086	LNCaP	prostate:	n/a
15	chr3:119498036-119498086	NB4	blood:	n/a
16	chr3:119498036-119498086	A549	lung:	n/a
17	chr3:119498036-119498086	Caco-2	colon:	n/a
18	chr3:119498036-119498086	HRE	kidney:	n/a
19	chr3:119498036-119498086	NT2-D1	testis:	n/a
20	chr3:119498036-119498086	GM19239	blood:	n/a
21	chr3:119498036-119498086	AG04450	lung:	fetal
22	chr3:119498036-119498086	GM12891	blood:	n/a
23	chr3:119498036-119498086	CMK	blood:	n/a
24	chr3:119498036-119498086	Hepatocyte	liver:	n/a
25	chr3:119498036-119498086	PANC-1	pancreas:	n/a
26	chr3:119498036-119498086	NHBE	bronchial:	n/a
27	chr3:119498036-119498086	RPTEC	kidney:	n/a
28	chr3:119498036-119498086	SK-N-SH_RA	brain:	n/a
29	chr3:119498036-119498086	AG09319	gingival:	n/a
30	chr3:119498036-119498086	HepG2	liver:	n/a
31	chr3:119498036-119498086	AG10803	skin:	n/a
32	chr3:119498036-119498086	HRCEpiC	kidney:	n/a
33	chr3:119498036-119498086	ProgFib	skin:	n/a
34	chr3:119498036-119498086	Jurkat	blood:	n/a
35	chr3:119498036-119498086	SKMC	muscle:	n/a
36	chr3:119498036-119498086	SK-N-MC	brain:	n/a
37	chr3:119498036-119498086	BJ	skin:	n/a
38	chr3:119498036-119498086	HCT-116	colon:	n/a
39	chr3:119498036-119498086	U87	brain:	n/a
40	chr3:119498036-119498086	HCF	heart:	n/a
41	chr3:119498036-119498086	HUVEC	blood vessel:	n/a
42	chr3:119498036-119498086	AG04449	skin:	fetal
43	chr3:119498036-119498086	NH-A	brain:	n/a
44	chr3:119498036-119498086	ECC-1	luminal epithelium:	n/a
45	chr3:119498036-119498086	AG09309	skin:	n/a
46	chr3:119498036-119498086	AoSMC	blood vessel:	n/a
47	chr3:119498036-119498086	ovcar-3	ovarian:	n/a
48	chr3:119498036-119498086	BE2_C	brain:	n/a
49	chr3:119498036-119498086	T-47D	breast:	n/a
50	chr3:119498036-119498086	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119498195..119499801-chr3:119500089..119502246,2	K562	blood:
2	chr3:119498195..119499776-chr3:119500089..119502545,2	K562	blood:

No data

Variant related genes	Relation type
NR1I2	TF binding region
NR1I2	CpG island
ENSG00000144852	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534184372	chr3:119496937-119496938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35287034	chr3:119496943-119496944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552220086	chr3:119497033-119497034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7643038	chr3:119497045-119497046	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs140146109	chr3:119497087-119497088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191869606	chr3:119497144-119497145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567872225	chr3:119497223-119497224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183812976	chr3:119497229-119497230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150302773	chr3:119497246-119497247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72965049	chr3:119497309-119497310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532506631	chr3:119497327-119497328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545767621	chr3:119497341-119497342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557435409	chr3:119497361-119497362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs137871294	chr3:119497364-119497365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544533331	chr3:119497392-119497393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372849359	chr3:119497480-119497481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188978486	chr3:119497503-119497504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566095096	chr3:119497566-119497567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377494786	chr3:119497577-119497578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530309639	chr3:119497620-119497621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9859568	chr3:119497633-119497634	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540353561	chr3:119497697-119497698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560548160	chr3:119497719-119497720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527722028	chr3:119497766-119497767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs940087	chr3:119497811-119497812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570706932	chr3:119497869-119497870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143400456	chr3:119497893-119497894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549797000	chr3:119497940-119497941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567960066	chr3:119497980-119497981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4334674	chr3:119498009-119498010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76149021	chr3:119498021-119498022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535249016	chr3:119498036-119498037	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs530649936	chr3:119498046-119498047	Weak transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs112642942	chr3:119498058-119498059	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs553484991	chr3:119498067-119498068	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs954357	chr3:119498079-119498080	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs565453190	chr3:119498082-119498083	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs78957639	chr3:119498094-119498095	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs79872015	chr3:119498096-119498097	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs34946686	chr3:119498182-119498183	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs202092925	chr3:119498190-119498191	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs954356	chr3:119498234-119498235	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535005269	chr3:119498304-119498305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557739391	chr3:119498311-119498312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575909002	chr3:119498336-119498337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111850163	chr3:119498354-119498355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs116800612	chr3:119498454-119498455	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs191948293	chr3:119498510-119498511	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs542429889	chr3:119498512-119498513	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs560638017	chr3:119498515-119498516	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119494000-119498400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr3:119495800-119497800	Weak transcription	K562	blood
3	chr3:119496800-119499400	Enhancers	HSMM	muscle
4	chr3:119497000-119499400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:119497800-119498200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:119497800-119499200	Enhancers	HSMMtube	muscle
7	chr3:119497800-119499200	Enhancers	K562	blood
8	chr3:119497800-119503000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:119498000-119499400	Enhancers	Fetal Muscle Leg	muscle
10	chr3:119498000-119499600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr3:119498000-119499600	Enhancers	GM12878-XiMat	blood
12	chr3:119498200-119501000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:119498400-119499600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:119498600-119499600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:119498600-119499800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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