Variant report

Variant	nsv1002668
Chromosome Location	chr2:67388232-67410611
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	BCL3	chr2:67406685-67407019	GM12878	blood:	n/a	n/a
2	BCL3	chr2:67406658-67406963	GM12878	blood:	n/a	n/a
3	BRCA1	chr2:67396646-67396741	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:67396616-67396866	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr2:67410257-67410448	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr2:67410183-67410594	HepG2	liver:	n/a	chr2:67410235-67410246
7	CEBPB	chr2:67410315-67410549	A549	lung:	n/a	n/a
8	CEBPB	chr2:67410306-67410574	IMR90	lung:	n/a	n/a
9	CTCF	chr2:67392140-67392290	HMF	breast:	n/a	n/a
10	CTCF	chr2:67392200-67392350	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr2:67392220-67392370	HPF	lung:	n/a	n/a
12	CTCF	chr2:67399053-67399100	K562	blood:	n/a	n/a
13	CTCF	chr2:67392120-67392270	HEK293	kidney:	n/a	n/a
14	EP300	chr2:67392309-67392701	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr2:67392329-67392670	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr2:67392609-67393345	ECC-1	luminal epithelium:	n/a	chr2:67392688-67392702
17	ESR1	chr2:67392799-67393173	T-47D	breast:	n/a	chr2:67392950-67392965 chr2:67392949-67392966 chr2:67392950-67392967
18	ESR1	chr2:67392236-67393245	ECC-1	luminal epithelium:	n/a	chr2:67392950-67392965 chr2:67392949-67392966 chr2:67392950-67392967
19	ESR1	chr2:67392796-67393053	T-47D	breast:	n/a	chr2:67392950-67392965 chr2:67392949-67392966 chr2:67392950-67392967
20	ESR1	chr2:67392751-67393131	ECC-1	luminal epithelium:	n/a	chr2:67392950-67392965 chr2:67392949-67392966 chr2:67392950-67392967
21	ESR1	chr2:67392289-67392610	ECC-1	luminal epithelium:	n/a	n/a
22	ESR1	chr2:67392317-67393197	ECC-1	luminal epithelium:	n/a	chr2:67392950-67392967 chr2:67392950-67392965 chr2:67392949-67392966
23	ESR1	chr2:67392265-67393262	ECC-1	luminal epithelium:	n/a	chr2:67392950-67392965 chr2:67392949-67392966 chr2:67392950-67392967
24	ESR1	chr2:67392794-67393120	ECC-1	luminal epithelium:	n/a	chr2:67392950-67392965 chr2:67392949-67392966 chr2:67392950-67392967
25	ESR1	chr2:67392333-67393158	ECC-1	luminal epithelium:	n/a	chr2:67392950-67392965 chr2:67392949-67392966 chr2:67392950-67392967
26	FOS	chr2:67404694-67405094	HUVEC	blood vessel:	n/a	n/a
27	FOS	chr2:67396588-67396878	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr2:67396588-67396882	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr2:67396612-67396894	MCF10A-Er-Src	breast:	n/a	n/a
30	FOSL2	chr2:67396467-67396990	SK-N-SH	brain:	n/a	chr2:67396505-67396512
31	FOXM1	chr2:67392606-67393307	ECC-1	luminal epithelium:	n/a	n/a
32	GATA3	chr2:67390253-67390423	SH-SY5Y	brain:	n/a	n/a
33	JUND	chr2:67392110-67392130	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr2:67396533-67397044	SK-N-SH	brain:	n/a	n/a
35	MAFF	chr2:67396914-67397161	HepG2	liver:	n/a	chr2:67397040-67397058
36	MAFF	chr2:67391968-67392377	HepG2	liver:	n/a	chr2:67392096-67392114
37	MAFK	chr2:67392115-67392332	H1-hESC	embryonic stem cell:	n/a	chr2:67392221-67392235 chr2:67392228-67392239 chr2:67392218-67392238 chr2:67392220-67392236
38	MAFK	chr2:67396874-67397151	IMR90	lung:	n/a	chr2:67397041-67397056
39	MAFK	chr2:67392108-67392267	Hela-S3	cervix:	n/a	chr2:67392221-67392235 chr2:67392228-67392239 chr2:67392218-67392238 chr2:67392220-67392236
40	MAFK	chr2:67406611-67406627	IMR90	lung:	n/a	n/a
41	MAFK	chr2:67406506-67406741	HepG2	liver:	n/a	chr2:67406627-67406641 chr2:67406629-67406640 chr2:67406629-67406640 chr2:67406628-67406639 chr2:67406624-67406640 chr2:67406628-67406639
42	MAFK	chr2:67396921-67397192	HepG2	liver:	n/a	chr2:67397041-67397056
43	MAFK	chr2:67391953-67392364	HepG2	liver:	n/a	chr2:67392221-67392235 chr2:67392098-67392109 chr2:67392228-67392239 chr2:67392218-67392238 chr2:67392098-67392114 chr2:67392097-67392111 chr2:67392099-67392110 chr2:67392098-67392109 chr2:67392098-67392113 chr2:67392099-67392110 chr2:67392220-67392236 chr2:67392101-67392118
44	MAFK	chr2:67396882-67397210	HepG2	liver:	n/a	chr2:67397041-67397056
45	MAFK	chr2:67391960-67392371	HepG2	liver:	n/a	chr2:67392221-67392235 chr2:67392098-67392109 chr2:67392228-67392239 chr2:67392218-67392238 chr2:67392098-67392114 chr2:67392097-67392111 chr2:67392099-67392110 chr2:67392098-67392109 chr2:67392098-67392113 chr2:67392099-67392110 chr2:67392220-67392236 chr2:67392101-67392118
46	MAFK	chr2:67391992-67392361	IMR90	lung:	n/a	chr2:67392221-67392235 chr2:67392098-67392109 chr2:67392228-67392239 chr2:67392218-67392238 chr2:67392098-67392114 chr2:67392097-67392111 chr2:67392099-67392110 chr2:67392098-67392109 chr2:67392098-67392113 chr2:67392099-67392110 chr2:67392220-67392236 chr2:67392101-67392118
47	MAZ	chr2:67409811-67409825	HepG2	liver:	n/a	n/a
48	NFATC1	chr2:67406681-67406973	GM12878	blood:	n/a	n/a
49	PBX3	chr2:67406738-67406916	GM12878	blood:	n/a	n/a
50	PBX3	chr2:67396447-67396969	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67403278..67404972-chr2:67405479..67407760,2	MCF-7	breast:
2	chr2:67403278..67404972-chr2:67405479..67407760,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1D-3	chr2:67404714-67404844	XLOC_002142
2	lnc-C1D-3	chr2:67402555-67402831	XLOC_002142
3	lnc-C1D-3	chr2:67404714-67404844	XLOC_002142
4	lnc-ETAA1-12	chr2:67405263-67405611	NONHSAT071271
5	lnc-ETAA1-12	chr2:67405716-67405940	NONHSAT071271
6	lnc-C1D-3	chr2:67402287-67402831	XLOC_002142
7	lnc-C1D-3	chr2:67391669-67391719	XLOC_002142
8	lnc-C1D-3	chr2:67404714-67405124	XLOC_002142
9	lnc-C1D-3	chr2:67404714-67404844	XLOC_002142
10	lnc-C1D-3	chr2:67402287-67402831	XLOC_002142
11	lnc-ETAA1-13	chr2:67404593-67404843	NONHSAT071270
12	lnc-C1D-3	chr2:67402449-67402831	XLOC_002142
13	lnc-C1D-3	chr2:67404714-67404844	XLOC_002142
14	lnc-ETAA1-6	chr2:67408120-67408355	ENSG00000230906.2

Variant related genes	Relation type
ENSG00000236780	TF binding region
ZEB1	miRNA target sites

Extended variants
information (count: 774 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:774 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542331645	chr2:67391430-67391431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553997776	chr2:67391448-67391449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187240351	chr2:67391503-67391504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544630922	chr2:67391541-67391542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574033233	chr2:67391547-67391548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564871827	chr2:67391770-67391771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192267236	chr2:67391772-67391773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10165607	chr2:67391787-67391788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184704122	chr2:67391792-67391793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547307419	chr2:67391801-67391802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543145054	chr2:67391822-67391823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138736640	chr2:67391848-67391849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34981918	chr2:67391872-67391873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190506738	chr2:67391908-67391909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546743194	chr2:67391918-67391919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560600836	chr2:67391956-67391957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192675543	chr2:67391980-67391981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552645794	chr2:67392075-67392076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377732828	chr2:67392088-67392089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569284542	chr2:67392096-67392097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562537771	chr2:67392243-67392244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536901601	chr2:67392250-67392251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550876801	chr2:67392297-67392298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34214623	chr2:67392333-67392334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116926369	chr2:67392360-67392361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536483434	chr2:67392398-67392399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184178166	chr2:67392466-67392467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148935089	chr2:67392550-67392551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189532486	chr2:67392607-67392608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558087150	chr2:67392704-67392705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72891825	chr2:67392743-67392744	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544549883	chr2:67392759-67392760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561641618	chr2:67392772-67392773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143638074	chr2:67392782-67392783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181079236	chr2:67392917-67392918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560559447	chr2:67392996-67392997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532611985	chr2:67392998-67392999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552707331	chr2:67393013-67393014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370161150	chr2:67393042-67393043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531749521	chr2:67393044-67393045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550587989	chr2:67393045-67393046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545283722	chr2:67393061-67393062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536053212	chr2:67393156-67393157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546428982	chr2:67393186-67393187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148275933	chr2:67393194-67393195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185731623	chr2:67393195-67393196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115076266	chr2:67393213-67393214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13403449	chr2:67393217-67393218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537880496	chr2:67393224-67393225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13390183	chr2:67393246-67393247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67391400-67392600	Enhancers	Fetal Lung	lung
2	chr2:67391600-67393200	Enhancers	Brain Germinal Matrix	brain
3	chr2:67392000-67392600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:67392000-67392800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:67392600-67394600	Weak transcription	Fetal Lung	lung
6	chr2:67394600-67396000	Enhancers	Fetal Lung	lung
7	chr2:67394800-67395000	Enhancers	Pancreas	Pancrea
8	chr2:67394800-67395200	Enhancers	Fetal Stomach	stomach
9	chr2:67395000-67396000	Weak transcription	Pancreas	Pancrea
10	chr2:67395600-67397400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:67396000-67396400	Enhancers	Pancreas	Pancrea
12	chr2:67396200-67397000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:67396200-67397400	Enhancers	NHEK	skin
14	chr2:67396400-67397400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:67396400-67422000	Weak transcription	Pancreas	Pancrea
16	chr2:67396600-67397000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:67398000-67398800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:67404400-67405200	Enhancers	HUVEC	blood vessel
19	chr2:67406800-67407400	Enhancers	Fetal Lung	lung
20	chr2:67407800-67409200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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