Variant report

Variant	nsv965218
Chromosome Location	chr3:141580574-141584429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:141582366-141582562	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr3:141581239-141581409	K562	blood:	n/a	n/a
3	E2F4	chr3:141582401-141582630	MCF10A-Er-Src	breast:	n/a	n/a
4	EBF1	chr3:141583257-141583483	GM12878	blood:	n/a	n/a
5	EP300	chr3:141581188-141581478	K562	blood:	n/a	n/a
6	FOS	chr3:141582437-141582583	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr3:141582399-141582636	MCF10A-Er-Src	breast:	n/a	chr3:141582433-141582443 chr3:141582432-141582444 chr3:141582434-141582442 chr3:141582433-141582443
8	FOS	chr3:141582309-141582668	MCF10A-Er-Src	breast:	n/a	chr3:141582433-141582443 chr3:141582432-141582444 chr3:141582434-141582442 chr3:141582433-141582443
9	FOS	chr3:141582398-141582671	MCF10A-Er-Src	breast:	n/a	chr3:141582433-141582443 chr3:141582432-141582444 chr3:141582434-141582442 chr3:141582433-141582443
10	JUND	chr3:141581343-141581376	K562	blood:	n/a	n/a
11	MYC	chr3:141582405-141582719	MCF10A-Er-Src	breast:	n/a	n/a
12	RCOR1	chr3:141581223-141581365	K562	blood:	n/a	n/a
13	RCOR1	chr3:141581171-141581506	K562	blood:	n/a	n/a
14	SPI1	chr3:141583213-141583413	GM12891	blood:	n/a	chr3:141583304-141583313
15	SPI1	chr3:141582342-141582821	HL-60	blood:	n/a	chr3:141582585-141582594
16	STAT3	chr3:141581638-141581825	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr3:141582294-141582667	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr3:141582421-141582719	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr3:141582457-141582657	MCF10A-Er-Src	breast:	n/a	n/a
20	TEAD4	chr3:141581145-141581549	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:141584141-141584191	MCF-7	breast:	n/a
2	chr3:141584141-141584191	ProgFib	skin:	n/a
3	chr3:141584141-141584191	SKMC	muscle:	n/a
4	chr3:141584141-141584191	PANC-1	pancreas:	n/a
5	chr3:141584141-141584191	PrEC	prostate:	n/a
6	chr3:141584141-141584191	MCF10A-Er-Src	breast:	n/a
7	chr3:141584141-141584191	BE2_C	brain:	n/a
8	chr3:141584141-141584191	HCPEpiC	choroid plexus:	n/a
9	chr3:141584141-141584191	LNCaP	prostate:	n/a
10	chr3:141584141-141584191	HAEpiC	amniotic membrane:	n/a
11	chr3:141584141-141584191	GM12878	blood:	n/a
12	chr3:141584141-141584191	RPTEC	kidney:	n/a
13	chr3:141584141-141584191	K562	blood:	n/a
14	chr3:141584141-141584191	HCT-116	colon:	n/a
15	chr3:141584141-141584191	AoSMC	blood vessel:	n/a
16	chr3:141584141-141584191	HRCEpiC	kidney:	n/a
17	chr3:141584141-141584191	HEEpiC	esophagus:	n/a
18	chr3:141584141-141584191	NHBE	bronchial:	n/a
19	chr3:141584141-141584191	HUVEC	blood vessel:	n/a
20	chr3:141584141-141584191	HEK293	kidney:	embryo
21	chr3:141584141-141584191	GM12892	blood:	n/a
22	chr3:141584141-141584191	Hepatocyte	liver:	n/a
23	chr3:141584141-141584191	HRPEpiC	eye:	n/a
24	chr3:141584141-141584191	AG04450	lung:	fetal
25	chr3:141584141-141584191	A549	lung:	n/a
26	chr3:141584141-141584191	SK-N-MC	brain:	n/a
27	chr3:141584141-141584191	HCM	heart:	n/a
28	chr3:141584141-141584191	SK-N-SH_RA	brain:	n/a
29	chr3:141584141-141584191	HPAEpiC	pulmonary alveolar:	n/a
30	chr3:141584141-141584191	HRE	kidney:	n/a
31	chr3:141584141-141584191	IMR90	lung:	fetal
32	chr3:141584141-141584191	NH-A	brain:	n/a
33	chr3:141584141-141584191	HepG2	liver:	n/a
34	chr3:141584141-141584191	H1-hESC	embryonic stem cell:	embryo
35	chr3:141584141-141584191	Jurkat	blood:	n/a
36	chr3:141584141-141584191	ECC-1	luminal epithelium:	n/a
37	chr3:141584141-141584191	Hela-S3	cervix:	n/a
38	chr3:141584141-141584191	NB4	blood:	n/a
39	chr3:141584141-141584191	SK-N-SH	brain:	n/a
40	chr3:141584141-141584191	U87	brain:	n/a
41	chr3:141584141-141584191	HL-60	blood:	n/a
42	chr3:141584141-141584191	HCF	heart:	n/a
43	chr3:141584141-141584191	HNPCEpiC	eye:	n/a
44	chr3:141584141-141584191	AG10803	skin:	n/a
45	chr3:141584141-141584191	HIPEpiC	eye:	n/a
46	chr3:141584141-141584191	SAEC	small airway:	n/a
47	chr3:141584141-141584191	AG04449	skin:	fetal
48	chr3:141584141-141584191	NT2-D1	testis:	n/a
49	chr3:141584141-141584191	AG09319	gingival:	n/a
50	chr3:141584141-141584191	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:141581679..141583852-chr3:141595457..141597866,2	K562	blood:
2	chr3:141580131..141582651-chr3:141594440..141596950,2	MCF-7	breast:
3	chr3:141581516..141585437-chr3:141593335..141595315,3	K562	blood:
4	chr3:141578935..141581204-chr3:141581944..141585535,3	K562	blood:
5	chr3:141581084..141582668-chr3:141665975..141668647,2	K562	blood:
6	chr3:141577387..141581642-chr3:141595422..141599021,5	K562	blood:
7	chr3:141582963..141586740-chr3:141593075..141596909,5	MCF-7	breast:

No data

Variant related genes	Relation type
HMGN2P25	TF binding region
HMGN2P25	CpG island
ENSG00000269905	chromatin interactions
ENSG00000228398	chromatin interactions
ENSG00000069849	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:153 , 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	rs371768997	chr3:141580632-141580633	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs77785680	chr3:141580735-141580736	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs367654707	chr3:141580736-141580737	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs533614636	chr3:141580757-141580758	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs574924992	chr3:141580770-141580771	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs11924621	chr3:141580777-141580778	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560600964	chr3:141580861-141580862	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs527957407	chr3:141580867-141580868	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189145569	chr3:141580868-141580869	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs62283098	chr3:141580875-141580876	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546529835	chr3:141580982-141580983	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553366556	chr3:141580989-141580990	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564427965	chr3:141581021-141581022	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs531786847	chr3:141581074-141581075	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368540723	chr3:141581083-141581084	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs550291189	chr3:141581096-141581097	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs113059506	chr3:141581114-141581115	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs529830219	chr3:141581115-141581116	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs79622427	chr3:141581136-141581137	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs184932280	chr3:141581143-141581144	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs147924342	chr3:141581176-141581177	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs542537183	chr3:141581187-141581188	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs4260404	chr3:141581203-141581204	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570107407	chr3:141581297-141581298	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs537488492	chr3:141581305-141581306	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs77980966	chr3:141581318-141581319	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs371518238	chr3:141581348-141581349	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs141794894	chr3:141581366-141581367	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs535218681	chr3:141581395-141581396	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554302998	chr3:141581419-141581420	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs116345243	chr3:141581427-141581428	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs150472179	chr3:141581476-141581477	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs564811778	chr3:141581496-141581497	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190710187	chr3:141581503-141581504	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs543869338	chr3:141581519-141581520	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs145409799	chr3:141581602-141581603	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs116829428	chr3:141581634-141581635	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547582812	chr3:141581635-141581636	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs148816868	chr3:141581663-141581664	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544486252	chr3:141581701-141581702	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs143455048	chr3:141581740-141581741	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs552041428	chr3:141581759-141581760	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs59122181	chr3:141581847-141581848	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs368412127	chr3:141581858-141581859	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs533162782	chr3:141581877-141581878	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs35505470	chr3:141581878-141581879	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112279271	chr3:141581913-141581914	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs537426415	chr3:141581918-141581919	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs61022825	chr3:141581964-141581965	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs567978115	chr3:141581969-141581970	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141573000-141582000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:141578000-141580600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:141578200-141580600	Enhancers	HepG2	liver
4	chr3:141578400-141581000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:141578600-141580800	Enhancers	HUVEC	blood vessel
6	chr3:141579000-141580600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:141579200-141580600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr3:141579200-141580600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:141579400-141583200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:141579600-141580600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:141579800-141582000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:141579800-141582000	Weak transcription	Left Ventricle	heart
13	chr3:141579800-141583800	Weak transcription	Lung	lung
14	chr3:141580000-141584000	Weak transcription	Right Ventricle	heart
15	chr3:141580200-141582400	Weak transcription	Adipose Nuclei	Adipose
16	chr3:141580400-141581800	Enhancers	K562	blood
17	chr3:141580600-141580800	Enhancers	HSMMtube	muscle
18	chr3:141580600-141582000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:141580600-141582200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:141580800-141581000	Enhancers	Placenta	Placenta
21	chr3:141580800-141588600	Weak transcription	HUVEC	blood vessel
22	chr3:141581000-141581400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:141581400-141581600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr3:141581400-141582600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr3:141581600-141582400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr3:141581800-141585400	Weak transcription	K562	blood
27	chr3:141582000-141582200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:141582000-141582200	Enhancers	Left Ventricle	heart
29	chr3:141582000-141582400	Enhancers	Primary hematopoietic stem cells	blood
30	chr3:141582000-141582400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:141582200-141582600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:141582200-141582600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:141582200-141582800	Weak transcription	Left Ventricle	heart
34	chr3:141582400-141582600	Enhancers	Adipose Nuclei	Adipose
35	chr3:141582400-141582600	Active TSS	Monocytes-CD14+_RO01746	blood
36	chr3:141582400-141582800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr3:141582400-141582800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:141582600-141582800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr3:141582600-141583000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr3:141582600-141583400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr3:141582800-141583000	Enhancers	Left Ventricle	heart
42	chr3:141582800-141583000	Active TSS	Monocytes-CD14+_RO01746	blood
43	chr3:141582800-141583400	Enhancers	Primary hematopoietic stem cells	blood
44	chr3:141583000-141583600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr3:141583000-141584200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr3:141583200-141583800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:141583600-141584200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr3:141583800-141588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:141584000-141584200	Enhancers	Right Ventricle	heart

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