Variant report

Variant	nsv979846
Chromosome Location	chr3:75989669-76020147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:75991836-75991901	K562	blood:	n/a	n/a
2	ATF1	chr3:75991766-75991934	K562	blood:	n/a	n/a
3	ATF1	chr3:75998476-75998676	K562	blood:	n/a	n/a
4	BHLHE40	chr3:75996667-75996686	GM12878	blood:	n/a	n/a
5	BHLHE40	chr3:75991823-75991949	GM12878	blood:	n/a	n/a
6	CEBPB	chr3:75991825-75991831	K562	blood:	n/a	n/a
7	CEBPZ	chr3:75991161-75991361	HepG2	liver:	n/a	n/a
8	CTCF	chr3:75991840-75991990	HCFaa	heart:	n/a	n/a
9	CTCF	chr3:75996600-75996750	BE2_C	brain:	n/a	n/a
10	CTCF	chr3:75994500-75994650	BE2_C	brain:	n/a	n/a
11	CTCF	chr3:75997740-75997778	A549	lung:	n/a	n/a
12	CTCF	chr3:75993860-75994010	HMF	breast:	n/a	n/a
13	CTCF	chr3:75995140-75995290	WI-38	lung:	n/a	n/a
14	CTCF	chr3:75991760-75991910	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr3:75998420-75998570	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr3:75996600-75996750	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr3:75995100-75995250	HFF	foreskin:	n/a	n/a
18	CTCF	chr3:75999982-76000028	A549	lung:	n/a	n/a
19	CTCF	chr3:75992420-75992570	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr3:75997740-75997890	AG09319	gingival:	n/a	n/a
21	CTCF	chr3:75991840-75991990	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr3:75992420-75992570	HCPEpiC	choroid plexus:	n/a	n/a
23	CUX1	chr3:75991969-75992028	K562	blood:	n/a	n/a
24	CUX1	chr3:75994987-75995150	GM12878	blood:	n/a	chr3:75994998-75995012
25	CUX1	chr3:75991053-75991212	GM12878	blood:	n/a	n/a
26	ELK1	chr3:75991759-75991914	GM12878	blood:	n/a	n/a
27	ELK1	chr3:75994908-75995152	GM12878	blood:	n/a	n/a
28	EP300	chr3:75991733-75991915	GM12878	blood:	n/a	n/a
29	FOXA1	chr3:75997074-75997297	T-47D	breast:	n/a	n/a
30	GATA3	chr3:75995521-75995775	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr3:75996704-75997097	T-47D	breast:	n/a	chr3:75996972-75996979 chr3:75996972-75996982
32	GATA3	chr3:75996845-75997186	SH-SY5Y	brain:	n/a	chr3:75996972-75996979 chr3:75996972-75996982
33	GATA3	chr3:75996860-75997298	T-47D	breast:	n/a	chr3:75996972-75996979 chr3:75996972-75996982
34	GATA3	chr3:75992498-75992671	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr3:75990944-75991130	SH-SY5Y	brain:	n/a	chr3:75991068-75991079
36	GATA3	chr3:75997893-75997964	SH-SY5Y	brain:	n/a	n/a
37	IKZF1	chr3:75991740-75992021	GM12878	blood:	n/a	n/a
38	IKZF1	chr3:75994898-75995098	GM12878	blood:	n/a	n/a
39	IRF1	chr3:75998393-75998526	K562	blood:	n/a	chr3:75998431-75998444
40	IRF3	chr3:75996543-75996743	GM12878	blood:	n/a	n/a
41	KAP1	chr3:76010919-76011643	K562	blood:	n/a	n/a
42	KAP1	chr3:75991832-75992033	K562	blood:	n/a	n/a
43	MAFK	chr3:75996739-75996979	HepG2	liver:	n/a	chr3:75996855-75996875
44	MAFK	chr3:76008169-76008273	HepG2	liver:	n/a	chr3:76008222-76008239
45	MAFK	chr3:76008096-76008372	HepG2	liver:	n/a	chr3:76008222-76008239
46	MAFK	chr3:75996002-75996203	HepG2	liver:	n/a	n/a
47	MAFK	chr3:75996725-75996949	HepG2	liver:	n/a	chr3:75996855-75996875
48	MAX	chr3:75998506-75998552	GM12878	blood:	n/a	n/a
49	MAZ	chr3:76001368-76001401	HepG2	liver:	n/a	n/a
50	MXI1	chr3:75998495-75998548	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:26206073..26206971-chr3:75991464..75992265,2	MCF-7	breast:
2	chr20:26208095..26209894-chr3:75988198..75990401,2	MCF-7	breast:
3	chr20:26199924..26201625-chr3:75995563..75997738,2	MCF-7	breast:
4	chr20:26201915..26204776-chr3:75992954..75996738,5	MCF-7	breast:
5	chr20:26201563..26203476-chr3:75993448..75995749,2	K562	blood:

Variant related genes	Relation type
ENSG00000222883	TF binding region

Extended variants
information (count: 544 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554724438	chr3:75991009-75991010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs76934873	chr3:75991012-75991013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs79377221	chr3:75991013-75991014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs115529485	chr3:75991027-75991028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs76345545	chr3:75991029-75991030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs72888405	chr3:75991051-75991052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs72888407	chr3:75991057-75991058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536891413	chr3:75991080-75991081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs72888409	chr3:75991097-75991098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs558305880	chr3:75991102-75991103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs576759279	chr3:75991113-75991114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs201700613	chr3:75991116-75991117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs540931877	chr3:75991132-75991133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs74874515	chr3:75991145-75991146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs78657149	chr3:75991154-75991155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs559319265	chr3:75991158-75991159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs74878595	chr3:75991159-75991160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs574306468	chr3:75991160-75991161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs373867431	chr3:75991189-75991190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs541921124	chr3:75991195-75991196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs77460239	chr3:75991196-75991197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs73841033	chr3:75991234-75991235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs73841034	chr3:75991236-75991237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs113784525	chr3:75991249-75991250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs78532018	chr3:75991260-75991261	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs72888411	chr3:75991266-75991267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs17028560	chr3:75991289-75991290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs77051019	chr3:75991299-75991300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs150390272	chr3:75991300-75991301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201400715	chr3:75991301-75991302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200342240	chr3:75991311-75991312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs550426084	chr3:75991364-75991365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs62269824	chr3:75991404-75991405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs79601456	chr3:75991407-75991408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs375568843	chr3:75991438-75991439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs4095546	chr3:75991451-75991452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs79440059	chr3:75991454-75991455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs532857360	chr3:75991459-75991460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs75892933	chr3:75991460-75991461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs547726901	chr3:75991477-75991478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs141445937	chr3:75991478-75991479	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs566072700	chr3:75991545-75991546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78756114	chr3:75991546-75991547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs74878327	chr3:75991570-75991571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs79240100	chr3:75991572-75991573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs536290389	chr3:75991626-75991627	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs202030919	chr3:75991630-75991631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs73841036	chr3:75991655-75991656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs73841037	chr3:75991662-75991663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs201457462	chr3:75991709-75991710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75991000-75992000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:75994200-75996000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr3:75994800-75996600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr3:75995400-75995800	ZNF genes & repeats	Fetal Brain Male	brain
5	chr3:75998400-75998800	ZNF genes & repeats	Fetal Brain Male	brain
6	chr3:75998800-75999000	Weak transcription	Fetal Brain Male	brain
7	chr3:75999000-75999200	Enhancers	Fetal Brain Male	brain
8	chr3:75999400-76004200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:76017000-76017400	Enhancers	Fetal Brain Female	brain
10	chr3:76017400-76018400	Weak transcription	Fetal Brain Female	brain
11	chr3:76018400-76018600	Enhancers	Fetal Brain Female	brain

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