Variant report

Variant	nsv979332
Chromosome Location	chr2:57760184-57771455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr2:57763687-57764134	GM12878	blood:	n/a	n/a
2	ATF2	chr2:57763704-57764026	GM12878	blood:	n/a	n/a
3	BATF	chr2:57763704-57763928	GM12878	blood:	n/a	n/a
4	CREB1	chr2:57763612-57764072	GM12878	blood:	n/a	n/a
5	CTCF	chr2:57761943-57761982	LNCaP	prostate:	n/a	n/a
6	CTCF	chr2:57767038-57767229	GM12878	blood:	n/a	n/a
7	CTCF	chr2:57767020-57767170	MCF-7	breast:	n/a	n/a
8	CUX1	chr2:57769656-57769662	GM12878	blood:	n/a	n/a
9	E2F4	chr2:57769530-57769564	GM12878	blood:	n/a	n/a
10	EP300	chr2:57763736-57763997	GM12878	blood:	n/a	n/a
11	EP300	chr2:57763737-57763975	GM12878	blood:	n/a	n/a
12	FAM48A	chr2:57765028-57765228	GM12878	blood:	n/a	n/a
13	FOS	chr2:57769085-57769426	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr2:57761354-57761421	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr2:57769181-57769410	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr2:57769088-57769421	MCF10A-Er-Src	breast:	n/a	n/a
17	FOXM1	chr2:57763624-57764338	GM12878	blood:	n/a	n/a
18	MEF2A	chr2:57763553-57764176	GM12878	blood:	n/a	n/a
19	MEF2A	chr2:57763719-57764120	GM12878	blood:	n/a	n/a
20	MEF2C	chr2:57763659-57764151	GM12878	blood:	n/a	chr2:57763935-57763950
21	MTA3	chr2:57763637-57764028	GM12878	blood:	n/a	n/a
22	MYC	chr2:57761398-57761487	MCF-7	breast:	n/a	n/a
23	NFATC1	chr2:57763583-57763991	GM12878	blood:	n/a	n/a
24	NFIC	chr2:57763583-57764215	GM12878	blood:	n/a	n/a
25	NFIC	chr2:57763548-57764361	GM12878	blood:	n/a	n/a
26	PAX5	chr2:57769229-57769448	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:57768306-57768506	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr2:57761347-57761525	A549	lung:	n/a	n/a
29	POLR2A	chr2:57762582-57762656	MCF10A-Er-Src	breast:	n/a	n/a
30	RAD21	chr2:57766956-57767159	GM12878	blood:	n/a	n/a
31	RFX5	chr2:57771361-57771455	K562	blood:	n/a	n/a
32	RUNX3	chr2:57763590-57764332	GM12878	blood:	n/a	n/a
33	RUNX3	chr2:57763726-57764022	GM12878	blood:	n/a	n/a
34	SPI1	chr2:57763720-57763925	GM12891	blood:	n/a	n/a
35	SRF	chr2:57763769-57763906	GM12878	blood:	n/a	n/a
36	STAT3	chr2:57769198-57769349	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr2:57769219-57769418	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr2:57769473-57769619	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr2:57768714-57768914	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr2:57768983-57769178	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr2:57769325-57769386	MCF10A-Er-Src	breast:	n/a	n/a
42	TBL1XR1	chr2:57763755-57763948	GM12878	blood:	n/a	n/a
43	TCF7L2	chr2:57766443-57766800	HepG2	liver:	n/a	n/a
44	WRNIP1	chr2:57770203-57770240	GM12878	blood:	n/a	n/a
45	ZMIZ1	chr2:57770615-57770635	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:57765322-57765372	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:57765322-57765372	GM12891	blood:	n/a
3	chr2:57765322-57765372	GM06990	blood:	n/a
4	chr2:57765322-57765372	PANC-1	pancreas:	n/a
5	chr2:57765322-57765372	NHDF-neo	bronchial:	n/a
6	chr2:57765322-57765372	HL-60	blood:	n/a
7	chr2:57765322-57765372	GM19239	blood:	n/a
8	chr2:57765322-57765372	AG09319	gingival:	n/a
9	chr2:57765322-57765372	HMEC	breast:	n/a
10	chr2:57765322-57765372	CMK	blood:	n/a
11	chr2:57765322-57765372	BE2_C	brain:	n/a
12	chr2:57765322-57765372	T-47D	breast:	n/a
13	chr2:57765322-57765372	BJ	skin:	n/a
14	chr2:57765322-57765372	AG10803	skin:	n/a
15	chr2:57765322-57765372	SKMC	muscle:	n/a
16	chr2:57765322-57765372	NB4	blood:	n/a
17	chr2:57765322-57765372	PrEC	prostate:	n/a
18	chr2:57765322-57765372	ovcar-3	ovarian:	n/a
19	chr2:57765322-57765372	AG04450	lung:	fetal
20	chr2:57765322-57765372	HRCEpiC	kidney:	n/a
21	chr2:57765322-57765372	K562	blood:	n/a
22	chr2:57765322-57765372	GM12878	blood:	n/a
23	chr2:57765322-57765372	SK-N-MC	brain:	n/a
24	chr2:57765322-57765372	HCF	heart:	n/a
25	chr2:57765322-57765372	Caco-2	colon:	n/a
26	chr2:57765322-57765372	HRE	kidney:	n/a
27	chr2:57765322-57765372	HEK293	kidney:	embryo
28	chr2:57765322-57765372	HCPEpiC	choroid plexus:	n/a
29	chr2:57765322-57765372	Jurkat	blood:	n/a
30	chr2:57765322-57765372	HUVEC	blood vessel:	n/a
31	chr2:57765322-57765372	MCF10A-Er-Src	breast:	n/a
32	chr2:57765322-57765372	Hepatocyte	liver:	n/a
33	chr2:57765322-57765372	HNPCEpiC	eye:	n/a
34	chr2:57765322-57765372	IMR90	lung:	fetal
35	chr2:57765322-57765372	HAEpiC	amniotic membrane:	n/a
36	chr2:57765322-57765372	U87	brain:	n/a
37	chr2:57765322-57765372	HCM	heart:	n/a
38	chr2:57765322-57765372	AG09309	skin:	n/a
39	chr2:57765322-57765372	HCT-116	colon:	n/a
40	chr2:57765322-57765372	MCF-7	breast:	n/a
41	chr2:57765322-57765372	HRPEpiC	eye:	n/a
42	chr2:57765322-57765372	Hela-S3	cervix:	n/a
43	chr2:57765322-57765372	HEEpiC	esophagus:	n/a
44	chr2:57765322-57765372	HepG2	liver:	n/a
45	chr2:57765322-57765372	AG04449	skin:	fetal
46	chr2:57765322-57765372	HIPEpiC	eye:	n/a
47	chr2:57765322-57765372	PFSK-1	brain:	n/a
48	chr2:57765322-57765372	AoSMC	blood vessel:	n/a
49	chr2:57765322-57765372	H1-hESC	embryonic stem cell:	embryo
50	chr2:57765322-57765372	SK-N-SH	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000212168	TF binding region
ENSG00000212168	CpG island

Extended variants
information (count: 426 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565726226	chr2:57761207-57761208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534335971	chr2:57761237-57761238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548140017	chr2:57761286-57761287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567696755	chr2:57761300-57761301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75991614	chr2:57761306-57761307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368800807	chr2:57761323-57761324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569920319	chr2:57761325-57761326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539184268	chr2:57761333-57761334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145395366	chr2:57761358-57761359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373509979	chr2:57761406-57761407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377576740	chr2:57761419-57761420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373709014	chr2:57761446-57761447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572477759	chr2:57761453-57761454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183781404	chr2:57761483-57761484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540534728	chr2:57761515-57761516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376923200	chr2:57761584-57761585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75656102	chr2:57761602-57761603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187008989	chr2:57761628-57761629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142654774	chr2:57761671-57761672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146304872	chr2:57761688-57761689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139041944	chr2:57761740-57761741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371619582	chr2:57761749-57761750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141598531	chr2:57761752-57761753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13422952	chr2:57761755-57761756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs78109218	chr2:57761765-57761766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550072098	chr2:57761816-57761817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573859551	chr2:57761817-57761818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374192170	chr2:57761842-57761843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191918619	chr2:57761847-57761848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559137105	chr2:57761848-57761849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566129214	chr2:57761851-57761852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542880021	chr2:57761875-57761876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111547239	chr2:57761878-57761879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184527935	chr2:57761883-57761884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574887580	chr2:57761892-57761893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148125213	chr2:57761897-57761898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557306467	chr2:57761898-57761899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577038854	chr2:57761918-57761919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528368017	chr2:57761925-57761926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531481760	chr2:57761993-57761994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559532895	chr2:57762055-57762056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190352156	chr2:57762058-57762059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182037606	chr2:57762110-57762111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561406599	chr2:57762114-57762115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541050996	chr2:57762122-57762123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530442000	chr2:57762131-57762132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9808003	chr2:57762140-57762141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs141252089	chr2:57762180-57762181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150779654	chr2:57762182-57762183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552582632	chr2:57762212-57762213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	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
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57761200-57761600	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr2:57761200-57761800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:57761200-57761800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:57761400-57761800	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:57761800-57770400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:57765400-57766000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:57770200-57770800	Enhancers	Liver	Liver
8	chr2:57770400-57772400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:57770400-57773400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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