Variant report

Variant	nsv874353
Chromosome Location	chr2:78001566-78097679
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	BACH1	chr2:78043808-78043996	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:78056821-78057163	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:78092232-78092239	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr2:78018338-78018524	HepG2	liver:	n/a	chr2:78018470-78018483 chr2:78018453-78018464
5	CEBPB	chr2:78079324-78079534	A549	lung:	n/a	chr2:78079391-78079404 chr2:78079423-78079434 chr2:78079391-78079402
6	CEBPB	chr2:78079267-78079555	HepG2	liver:	n/a	chr2:78079391-78079404 chr2:78079423-78079434 chr2:78079391-78079402
7	CEBPB	chr2:78029044-78029185	HepG2	liver:	n/a	chr2:78029126-78029139 chr2:78029127-78029138
8	CEBPB	chr2:78079311-78079511	IMR90	lung:	n/a	chr2:78079391-78079404 chr2:78079423-78079434 chr2:78079391-78079402
9	CTCF	chr2:78071343-78071412	GM13976	blood:	n/a	n/a
10	CTCF	chr2:78046932-78046967	GM20000	blood:	n/a	n/a
11	CTCF	chr2:78033617-78033669	Lung_OC	lung:	n/a	n/a
12	CTCF	chr2:78092199-78092210	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr2:78035672-78035707	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chr2:78037650-78037693	GM10248	blood:	n/a	n/a
15	CTCF	chr2:78092192-78092232	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr2:78092219-78092243	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr2:78023640-78023790	BE2_C	brain:	n/a	n/a
18	CTCF	chr2:78058640-78058790	RPTEC	kidney:	n/a	n/a
19	CTCF	chr2:78023560-78023710	BE2_C	brain:	n/a	n/a
20	CTCF	chr2:78056762-78056790	Fibrobl	skin:	n/a	n/a
21	CTCF	chr2:78007686-78007720	Lung_OC	lung:	n/a	n/a
22	CTCF	chr2:78023640-78023790	Caco-2	colon:	n/a	n/a
23	CTCF	chr2:78083144-78083213	GM20000	blood:	n/a	n/a
24	E2F4	chr2:78024715-78025098	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr2:78078205-78078486	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr2:78086203-78086216	MCF10A-Er-Src	breast:	n/a	n/a
27	EP300	chr2:78027585-78027826	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr2:78016788-78017750	SK-N-SH	brain:	n/a	n/a
29	EP300	chr2:78017913-78017915	HepG2	liver:	n/a	n/a
30	EP300	chr2:78027511-78027934	SK-N-SH_RA	brain:	n/a	n/a
31	EP300	chr2:78027202-78027929	SK-N-SH	brain:	n/a	n/a
32	FOS	chr2:78034997-78035233	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr2:78034937-78035262	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr2:78035048-78035255	MCF10A-Er-Src	breast:	n/a	n/a
35	FOXA1	chr2:78086717-78086872	T-47D	breast:	n/a	n/a
36	FOXA1	chr2:78058162-78058571	HepG2	liver:	n/a	n/a
37	FOXA1	chr2:78065510-78065955	HepG2	liver:	n/a	n/a
38	FOXA1	chr2:78059125-78059339	T-47D	breast:	n/a	n/a
39	FOXA1	chr2:78065381-78065924	HepG2	liver:	n/a	n/a
40	FOXA1	chr2:78005800-78006091	HepG2	liver:	n/a	n/a
41	FOXA1	chr2:78065506-78065889	HepG2	liver:	n/a	n/a
42	FOXA2	chr2:78058195-78058430	HepG2	liver:	n/a	n/a
43	FOXA2	chr2:78065315-78066106	HepG2	liver:	n/a	n/a
44	FOXA2	chr2:78005851-78006049	HepG2	liver:	n/a	n/a
45	FOXA2	chr2:78065493-78065806	HepG2	liver:	n/a	n/a
46	GATA1	chr2:78079411-78079617	PBDEFetal	blood:	n/a	n/a
47	GATA2	chr2:78079411-78079968	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr2:78027554-78027828	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr2:78018670-78018890	SH-SY5Y	brain:	n/a	n/a
50	GATA3	chr2:78031017-78031193	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56735169..56737848-chr2:78047828..78049670,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REG3G-9	chr2:78019858-78020279	NONHSAT071833
2	lnc-REG3G-9	chr2:78015508-78015637	NONHSAT071833
3	lnc-REG3G-9	chr2:78019947-78020151	NONHSAT071834
4	lnc-LRRTM4-3	chr2:78066895-78067016	NR_110288
5	lnc-REG3G-9	chr2:78014667-78014729	NONHSAT071833
6	lnc-REG3G-9	chr2:78013230-78013238	NONHSAT071833

Variant related genes	Relation type
ENSG00000237077	TF binding region
ENSG00000202077	chromatin interactions

Extended variants
information (count: 2724 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2724 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528726195	chr2:78011662-78011663	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs552049875	chr2:78011683-78011684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534824329	chr2:78012070-78012071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs554420670	chr2:78012093-78012094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs146773612	chr2:78012106-78012107	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs536984152	chr2:78012130-78012131	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs566563050	chr2:78012185-78012186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs567599115	chr2:78012238-78012239	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs73941468	chr2:78012258-78012259	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545869906	chr2:78012261-78012262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs559809025	chr2:78012280-78012281	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs573211307	chr2:78012352-78012353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs146405770	chr2:78012405-78012406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs528354350	chr2:78012423-78012424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs191581290	chr2:78012429-78012430	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs562232227	chr2:78012430-78012431	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs368372804	chr2:78012441-78012442	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs531109595	chr2:78012494-78012495	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs183720847	chr2:78012511-78012512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs188785500	chr2:78012524-78012525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs532183863	chr2:78012556-78012557	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs551846634	chr2:78012579-78012580	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs181174995	chr2:78012609-78012610	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs528147437	chr2:78012611-78012612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs571325968	chr2:78012639-78012640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs12465098	chr2:78012643-78012644	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs114467494	chr2:78012652-78012653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs185223730	chr2:78012719-78012720	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs556878683	chr2:78012760-78012761	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs190067839	chr2:78012766-78012767	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs201633682	chr2:78012785-78012786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs182128360	chr2:78012790-78012791	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs201369021	chr2:78012797-78012798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs192445996	chr2:78013618-78013619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11898150	chr2:78013677-78013678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183873088	chr2:78013680-78013681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533882161	chr2:78013692-78013693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368997806	chr2:78013709-78013710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186658466	chr2:78013729-78013730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35469748	chr2:78013751-78013752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376399456	chr2:78013764-78013765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13391460	chr2:78013788-78013789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566747977	chr2:78013793-78013794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2129491	chr2:78013846-78013847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369617175	chr2:78013875-78013876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549350355	chr2:78013914-78013915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569396344	chr2:78013949-78013950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545136691	chr2:78013952-78013953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558268339	chr2:78013964-78013965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563416108	chr2:78013969-78013970	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78013600-78014200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:78013800-78014600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:78014000-78014400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:78017800-78018000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:78018000-78021200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:78023800-78024600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:78023800-78025000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:78023800-78025200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:78024200-78024600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:78024200-78024800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:78024400-78025200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:78031000-78031200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:78031400-78032000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:78031600-78031800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:78031800-78033000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:78032000-78033000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:78032800-78033000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:78033000-78033400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:78033000-78036000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:78033800-78036000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:78034800-78035000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:78035000-78035400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:78035200-78035800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:78035200-78035800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:78035600-78035800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr2:78035800-78040600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:78040000-78041000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:78040400-78041000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:78040600-78041000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:78040600-78041000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:78040600-78041000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:78040600-78041000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:78040600-78041200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:78040600-78041200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:78040600-78041200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:78040600-78041400	Enhancers	HepG2	liver
37	chr2:78040600-78042200	Enhancers	Fetal Intestine Large	intestine
38	chr2:78041000-78043600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:78041200-78048800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:78041400-78043600	Weak transcription	HepG2	liver
41	chr2:78043600-78044000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr2:78043600-78044000	Enhancers	HepG2	liver
43	chr2:78044000-78048800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:78044000-78050000	Weak transcription	HepG2	liver
45	chr2:78048800-78049600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:78048800-78049800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr2:78048800-78050000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr2:78048800-78050200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:78049600-78055600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:78050000-78050400	Enhancers	Fetal Intestine Large	intestine

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