Variant report

Variant	nsv589857
Chromosome Location	chr3:20310573-20326562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr3:20324264-20324647	K562	blood:	n/a	n/a
2	CBX3	chr3:20324344-20324598	K562	blood:	n/a	n/a
3	CEBPB	chr3:20325107-20325384	HepG2	liver:	n/a	chr3:20325251-20325264 chr3:20325252-20325263 chr3:20325116-20325127 chr3:20325251-20325262 chr3:20325251-20325264 chr3:20325251-20325264
4	CEBPB	chr3:20325166-20325366	K562	blood:	n/a	chr3:20325251-20325264 chr3:20325252-20325263 chr3:20325251-20325262 chr3:20325251-20325264 chr3:20325251-20325264
5	FOS	chr3:20318215-20318419	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr3:20318259-20318333	MCF10A-Er-Src	breast:	n/a	n/a
7	KAP1	chr3:20324294-20325062	K562	blood:	n/a	n/a
8	MAFF	chr3:20317255-20317411	HepG2	liver:	n/a	n/a
9	MAFK	chr3:20317340-20317449	HepG2	liver:	n/a	n/a
10	MAFK	chr3:20322291-20322339	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAFK	chr3:20310936-20311230	IMR90	lung:	n/a	n/a
12	MXI1	chr3:20320799-20320905	GM12878	blood:	n/a	n/a
13	NFYA	chr3:20310899-20311220	K562	blood:	n/a	chr3:20311109-20311127 chr3:20311133-20311151
14	NFYA	chr3:20317202-20317414	K562	blood:	n/a	n/a
15	NFYB	chr3:20310982-20311327	GM12878	blood:	n/a	n/a
16	NFYB	chr3:20317210-20317506	GM12878	blood:	n/a	n/a
17	NFYB	chr3:20317143-20317567	K562	blood:	n/a	n/a
18	NFYB	chr3:20310873-20311352	K562	blood:	n/a	n/a
19	NRF1	chr3:20321327-20321389	K562	blood:	n/a	n/a
20	POLR2A	chr3:20321298-20321512	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr3:20311224-20311230	K562	blood:	n/a	n/a
22	POLR2A	chr3:20310491-20310641	MCF10A-Er-Src	breast:	n/a	n/a
23	SP1	chr3:20310987-20311237	GM12878	blood:	n/a	n/a
24	SPI1	chr3:20321471-20322243	HL-60	blood:	n/a	chr3:20321515-20321528 chr3:20321597-20321610 chr3:20321598-20321607
25	SPI1	chr3:20321820-20322082	GM12878	blood:	n/a	n/a
26	TBP	chr3:20321939-20321945	K562	blood:	n/a	n/a
27	TRIM28	chr3:20324228-20324682	K562	blood:	n/a	n/a
28	ZBTB7A	chr3:20316955-20317238	K562	blood:	n/a	n/a
29	ZNF384	chr3:20321668-20321998	K562	blood:	n/a	n/a
30	ZNF384	chr3:20321824-20321993	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20321584-20321634	GM12891	blood:	n/a
2	chr3:20321584-20321634	HCF	heart:	n/a
3	chr3:20321584-20321634	HCPEpiC	choroid plexus:	n/a
4	chr3:20321584-20321634	Hela-S3	cervix:	n/a
5	chr3:20321584-20321634	CMK	blood:	n/a
6	chr3:20321584-20321634	T-47D	breast:	n/a
7	chr3:20321584-20321634	H1-hESC	embryonic stem cell:	embryo
8	chr3:20321584-20321634	PFSK-1	brain:	n/a
9	chr3:20321584-20321634	HEEpiC	esophagus:	n/a
10	chr3:20321584-20321634	SKMC	muscle:	n/a
11	chr3:20321584-20321634	GM12878	blood:	n/a
12	chr3:20321584-20321634	HRCEpiC	kidney:	n/a
13	chr3:20321584-20321634	HAEpiC	amniotic membrane:	n/a
14	chr3:20321584-20321634	MCF-7	breast:	n/a
15	chr3:20321584-20321634	HIPEpiC	eye:	n/a
16	chr3:20321584-20321634	NHBE	bronchial:	n/a
17	chr3:20321584-20321634	ProgFib	skin:	n/a
18	chr3:20321584-20321634	PrEC	prostate:	n/a
19	chr3:20321584-20321634	GM12892	blood:	n/a
20	chr3:20321584-20321634	RPTEC	kidney:	n/a
21	chr3:20321584-20321634	AG04449	skin:	fetal
22	chr3:20321584-20321634	AG04450	lung:	fetal
23	chr3:20321584-20321634	GM06990	blood:	n/a
24	chr3:20321584-20321634	AG10803	skin:	n/a
25	chr3:20321584-20321634	AG09319	gingival:	n/a
26	chr3:20321584-20321634	A549	lung:	n/a
27	chr3:20321584-20321634	GM19239	blood:	n/a
28	chr3:20321584-20321634	ovcar-3	ovarian:	n/a
29	chr3:20321584-20321634	PANC-1	pancreas:	n/a
30	chr3:20321584-20321634	HPAEpiC	pulmonary alveolar:	n/a
31	chr3:20321584-20321634	HNPCEpiC	eye:	n/a
32	chr3:20321584-20321634	Jurkat	blood:	n/a
33	chr3:20321584-20321634	MCF10A-Er-Src	breast:	n/a
34	chr3:20321584-20321634	NT2-D1	testis:	n/a
35	chr3:20321584-20321634	SK-N-SH	brain:	n/a
36	chr3:20321584-20321634	HMEC	breast:	n/a
37	chr3:20321584-20321634	HCM	heart:	n/a
38	chr3:20321584-20321634	HRE	kidney:	n/a
39	chr3:20321584-20321634	ECC-1	luminal epithelium:	n/a
40	chr3:20321584-20321634	Caco-2	colon:	n/a
41	chr3:20321584-20321634	HUVEC	blood vessel:	n/a
42	chr3:20321584-20321634	SK-N-MC	brain:	n/a
43	chr3:20321584-20321634	Hepatocyte	liver:	n/a
44	chr3:20321584-20321634	BJ	skin:	n/a
45	chr3:20321584-20321634	HEK293	kidney:	embryo
46	chr3:20321584-20321634	LNCaP	prostate:	n/a
47	chr3:20321584-20321634	HL-60	blood:	n/a
48	chr3:20321584-20321634	BE2_C	brain:	n/a
49	chr3:20321584-20321634	K562	blood:	n/a
50	chr3:20321584-20321634	HRPEpiC	eye:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:20248922..20251335-chr3:20323167..20325698,2	K562	blood:
2	chr3:20320265..20323041-chr3:20324824..20326695,2	K562	blood:
3	chr3:20320265..20323041-chr3:20324824..20326695,2	K562	blood:
4	chr3:20316601..20319465-chr3:20319672..20321888,2	K562	blood:
5	chr3:20316601..20319465-chr3:20319672..20321888,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-822P	TF binding region
RNU6-822P	CpG island

Extended variants
information (count: 569 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10048973	chr3:20310573-20310574	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537470110	chr3:20310581-20310582	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs4857930	chr3:20310601-20310602	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs112412394	chr3:20310628-20310629	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs535282811	chr3:20310649-20310650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553291480	chr3:20310660-20310661	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4287923	chr3:20310664-20310665	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112630509	chr3:20310669-20310670	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574267618	chr3:20310672-20310673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189481155	chr3:20310678-20310679	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4380427	chr3:20310729-20310730	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559841750	chr3:20310730-20310731	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536836107	chr3:20310733-20310734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575712151	chr3:20310737-20310738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543074087	chr3:20310746-20310747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73818872	chr3:20310762-20310763	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551945906	chr3:20310793-20310794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74351439	chr3:20310825-20310826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs111464395	chr3:20310917-20310918	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs370188157	chr3:20310934-20310935	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs531164011	chr3:20310935-20310936	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs547623801	chr3:20310947-20310948	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs140532704	chr3:20310969-20310970	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs529956773	chr3:20310991-20310992	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs373080954	chr3:20311002-20311003	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs570184436	chr3:20311019-20311020	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs530999030	chr3:20311039-20311040	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs9820680	chr3:20311069-20311070	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs570777332	chr3:20311073-20311074	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs143643498	chr3:20311076-20311077	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs534702408	chr3:20311080-20311081	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs553666061	chr3:20311081-20311082	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs553298715	chr3:20311102-20311103	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs9820701	chr3:20311107-20311108	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181083621	chr3:20311108-20311109	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs557107408	chr3:20311133-20311134	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs535060782	chr3:20311157-20311158	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs543467670	chr3:20311159-20311160	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs558271613	chr3:20311160-20311161	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs140878073	chr3:20311187-20311188	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs372708855	chr3:20311225-20311226	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs150152162	chr3:20311226-20311227	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs12633424	chr3:20311232-20311233	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs559719254	chr3:20311285-20311286	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs542570599	chr3:20311286-20311287	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs542060531	chr3:20311290-20311291	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs562353943	chr3:20311298-20311299	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs575950997	chr3:20311327-20311328	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs533418267	chr3:20311332-20311333	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs371411749	chr3:20311344-20311345	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20296200-20310800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:20309600-20312000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:20316600-20318600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:20317600-20329000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:20317800-20318200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr3:20318600-20319400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:20319400-20319800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:20319400-20320400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:20319800-20320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:20320400-20322400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:20320400-20322600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:20320800-20322200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:20321600-20322200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:20321600-20322200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr3:20321600-20322200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr3:20321600-20322200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:20321600-20322400	Enhancers	Primary B cells from peripheral blood	blood
18	chr3:20321600-20322400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:20321800-20322000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:20321800-20322200	Enhancers	Primary T cells fromperipheralblood	blood
21	chr3:20322000-20329800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:20322200-20322600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:20322200-20322600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:20322600-20322800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:20322600-20325800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:20322800-20323000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:20324000-20324800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:20325600-20325800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr3:20325600-20325800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:20325800-20330200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:20326200-20331000	Weak transcription	Pancreas	Pancrea

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