Variant report

Variant	nsv979063
Chromosome Location	chr2:96212061-96217828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:96216235-96217310	K562	blood:	n/a	n/a
2	ARID3A	chr2:96215789-96215955	K562	blood:	n/a	n/a
3	ATF1	chr2:96216783-96217311	K562	blood:	n/a	n/a
4	ATF3	chr2:96216870-96217474	A549	lung:	n/a	n/a
5	ATF3	chr2:96216843-96217469	A549	lung:	n/a	n/a
6	ATF3	chr2:96216710-96217428	K562	blood:	n/a	n/a
7	BACH1	chr2:96217097-96217307	K562	blood:	n/a	n/a
8	BDP1	chr2:96217083-96217486	K562	blood:	n/a	n/a
9	BHLHE40	chr2:96216731-96217294	K562	blood:	n/a	n/a
10	CBX3	chr2:96216937-96217307	K562	blood:	n/a	n/a
11	CBX3	chr2:96216678-96217394	K562	blood:	n/a	n/a
12	CCNT2	chr2:96217066-96217244	K562	blood:	n/a	n/a
13	CEBPB	chr2:96217100-96217447	K562	blood:	n/a	n/a
14	CEBPD	chr2:96216790-96217279	K562	blood:	n/a	n/a
15	CHD2	chr2:96216969-96217371	K562	blood:	n/a	n/a
16	CTCF	chr2:96216989-96217270	K562	blood:	n/a	n/a
17	CTCF	chr2:96217384-96217466	LNCaP	prostate:	n/a	n/a
18	CUX1	chr2:96216662-96217263	K562	blood:	n/a	n/a
19	E2F6	chr2:96216869-96217127	K562	blood:	n/a	n/a
20	EGR1	chr2:96216775-96217130	K562	blood:	n/a	chr2:96216960-96216975 chr2:96216961-96216974 chr2:96216961-96216974
21	EGR1	chr2:96216833-96217074	K562	blood:	n/a	chr2:96216960-96216975 chr2:96216961-96216974 chr2:96216961-96216974
22	ELK1	chr2:96217060-96217264	K562	blood:	n/a	n/a
23	EP300	chr2:96217038-96217484	GM12878	blood:	n/a	n/a
24	EP300	chr2:96216762-96217353	K562	blood:	n/a	n/a
25	ETS1	chr2:96216978-96217257	K562	blood:	n/a	n/a
26	ETS1	chr2:96216965-96217353	K562	blood:	n/a	n/a
27	ETS1	chr2:96216967-96217357	A549	lung:	n/a	n/a
28	GATA2	chr2:96216686-96217114	K562	blood:	n/a	n/a
29	GTF2F1	chr2:96217045-96217240	K562	blood:	n/a	n/a
30	GTF3C2	chr2:96216731-96217425	K562	blood:	n/a	n/a
31	HCFC1	chr2:96216690-96217317	K562	blood:	n/a	n/a
32	HEY1	chr2:96216626-96217006	K562	blood:	n/a	n/a
33	IRF1	chr2:96216802-96217297	K562	blood:	n/a	n/a
34	JUN	chr2:96216762-96217332	K562	blood:	n/a	n/a
35	JUN	chr2:96216653-96217703	K562	blood:	n/a	n/a
36	JUND	chr2:96216719-96217382	K562	blood:	n/a	n/a
37	MAFF	chr2:96216478-96216670	K562	blood:	n/a	n/a
38	MAFF	chr2:96217009-96217307	K562	blood:	n/a	n/a
39	MAFK	chr2:96216798-96217317	K562	blood:	n/a	n/a
40	MAX	chr2:96216817-96217368	K562	blood:	n/a	n/a
41	MAX	chr2:96216815-96217233	K562	blood:	n/a	n/a
42	MAX	chr2:96216777-96217279	K562	blood:	n/a	n/a
43	MAZ	chr2:96216762-96217355	K562	blood:	n/a	n/a
44	MXI1	chr2:96216923-96217240	K562	blood:	n/a	n/a
45	MYBL2	chr2:96216964-96217391	HepG2	liver:	n/a	n/a
46	MYC	chr2:96216757-96217422	K562	blood:	n/a	n/a
47	MYC	chr2:96217137-96217139	K562	blood:	n/a	n/a
48	MYC	chr2:96216763-96217409	K562	blood:	n/a	n/a
49	MYC	chr2:96216784-96217224	K562	blood:	n/a	n/a
50	MYC	chr2:96216811-96217123	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
OR7E102P	TF binding region
ENSG00000233037	TF binding region

Extended variants
information (count: 124 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563072378	chr2:96212410-96212411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs573598498	chr2:96212416-96212417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192153108	chr2:96212439-96212440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs554372254	chr2:96212446-96212447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs565432838	chr2:96212448-96212449	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs577616733	chr2:96212478-96212479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs77007932	chr2:96212505-96212506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372980121	chr2:96212534-96212535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs376179319	chr2:96212538-96212539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201032012	chr2:96212547-96212548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs551263784	chr2:96213243-96213244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs565218412	chr2:96213248-96213249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200278359	chr2:96213253-96213254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs576424482	chr2:96213262-96213263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs35036521	chr2:96213304-96213305	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs530679316	chr2:96213364-96213365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs553311030	chr2:96213371-96213372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs188743750	chr2:96213373-96213374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs143115998	chr2:96213799-96213800	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs190940450	chr2:96213822-96213823	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs538109092	chr2:96213836-96213837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs184036146	chr2:96213883-96213884	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs186379529	chr2:96213891-96213892	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs13428035	chr2:96213898-96213899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs116547775	chr2:96213931-96213932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs552677509	chr2:96213954-96213955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs10207013	chr2:96213965-96213966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs190432574	chr2:96213973-96213974	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs117943149	chr2:96215857-96215858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577216170	chr2:96215867-96215868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546157115	chr2:96215906-96215907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72492160	chr2:96215914-96215915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553804588	chr2:96215945-96215946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572485069	chr2:96215951-96215952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189367177	chr2:96216011-96216012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6716516	chr2:96216066-96216067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs372772140	chr2:96216079-96216080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557893348	chr2:96216105-96216106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561897573	chr2:96216130-96216131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527986054	chr2:96216140-96216141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180965021	chr2:96216162-96216163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6707154	chr2:96216165-96216166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs369966622	chr2:96216170-96216171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552118909	chr2:96216171-96216172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577732123	chr2:96216173-96216174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574275247	chr2:96216174-96216175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568997956	chr2:96216175-96216176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572428796	chr2:96216179-96216180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554813279	chr2:96216281-96216282	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574727879	chr2:96216339-96216340	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96215800-96216200	Enhancers	K562	blood
2	chr2:96216200-96216600	Flanking Active TSS	K562	blood
3	chr2:96216400-96216600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:96216400-96217000	Enhancers	Primary hematopoietic stem cells	blood
5	chr2:96216600-96216800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:96216600-96216800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:96216600-96217000	Active TSS	K562	blood
8	chr2:96216800-96217000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:96216800-96217400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:96217000-96217200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:96217000-96217200	Flanking Active TSS	K562	blood
12	chr2:96217200-96217400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:96217200-96217800	Enhancers	K562	blood
14	chr2:96217400-96218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:96217400-96218600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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