Variant report

Variant	nsv874247
Chromosome Location	chr2:67105342-67141322
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	CEBPB	chr2:67126767-67127208	IMR90	lung:	n/a	n/a
2	CEBPB	chr2:67127692-67127711	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:67116443-67116733	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:67115878-67116885	IMR90	lung:	n/a	n/a
5	CEBPB	chr2:67125094-67125294	IMR90	lung:	n/a	n/a
6	CEBPB	chr2:67116474-67116658	A549	lung:	n/a	n/a
7	CEBPB	chr2:67105719-67105823	K562	blood:	n/a	chr2:67105744-67105757
8	CEBPB	chr2:67140621-67140821	HepG2	liver:	n/a	chr2:67140740-67140751
9	CTCF	chr2:67116220-67116370	HFF	foreskin:	n/a	n/a
10	CTCF	chr2:67124220-67124370	HRE	kidney:	n/a	n/a
11	CTCF	chr2:67116220-67116370	BJ	skin:	n/a	n/a
12	CTCF	chr2:67116320-67116470	AG04449	skin:	n/a	n/a
13	CTCF	chr2:67116200-67116350	HMF	breast:	n/a	n/a
14	CTCF	chr2:67113800-67113950	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr2:67116300-67116450	BJ	skin:	n/a	n/a
16	CTCF	chr2:67116260-67116410	AG04449	skin:	n/a	n/a
17	CTCF	chr2:67116260-67116410	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr2:67116280-67116430	AG09319	gingival:	n/a	n/a
19	CTCF	chr2:67116180-67116330	HPAF	blood vessel:	n/a	n/a
20	EP300	chr2:67116465-67116649	Hela-S3	cervix:	n/a	n/a
21	EP300	chr2:67125129-67125366	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr2:67117535-67117802	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr2:67116006-67116597	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr2:67116342-67116621	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr2:67125034-67125374	SK-N-SH_RA	brain:	n/a	n/a
26	EP300	chr2:67115982-67116314	SK-N-SH_RA	brain:	n/a	n/a
27	EP300	chr2:67130290-67130643	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr2:67130345-67130696	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr2:67115865-67116671	SK-N-SH	brain:	n/a	n/a
30	FOS	chr2:67116379-67116691	MCF10A-Er-Src	breast:	n/a	chr2:67116545-67116556 chr2:67116549-67116557
31	FOS	chr2:67116382-67116672	MCF10A-Er-Src	breast:	n/a	chr2:67116545-67116556 chr2:67116549-67116557
32	FOS	chr2:67116366-67116722	MCF10A-Er-Src	breast:	n/a	chr2:67116545-67116556 chr2:67116549-67116557
33	FOS	chr2:67116049-67116742	MCF10A-Er-Src	breast:	n/a	chr2:67116106-67116117 chr2:67116355-67116364 chr2:67116354-67116363 chr2:67116545-67116556 chr2:67116353-67116362 chr2:67116549-67116557
34	FOSL2	chr2:67116156-67116727	SK-N-SH	brain:	n/a	chr2:67116355-67116364 chr2:67116354-67116363 chr2:67116545-67116556 chr2:67116353-67116362 chr2:67116549-67116557
35	GATA2	chr2:67130329-67130921	SH-SY5Y	brain:	n/a	chr2:67130590-67130600 chr2:67130728-67130741 chr2:67130579-67130596
36	GATA3	chr2:67115675-67116841	SK-N-SH	brain:	n/a	chr2:67115800-67115811 chr2:67116562-67116575 chr2:67116014-67116023 chr2:67116752-67116768 chr2:67116752-67116768 chr2:67116755-67116765 chr2:67116565-67116573 chr2:67116757-67116774 chr2:67116754-67116766 chr2:67116749-67116770 chr2:67116014-67116021
37	GATA3	chr2:67130361-67130802	SH-SY5Y	brain:	n/a	chr2:67130590-67130600 chr2:67130728-67130741 chr2:67130579-67130596
38	GATA3	chr2:67117323-67118070	SK-N-SH	brain:	n/a	chr2:67117702-67117709 chr2:67117702-67117709 chr2:67117702-67117709 chr2:67117698-67117714 chr2:67117695-67117716
39	GATA3	chr2:67117337-67118066	SK-N-SH	brain:	n/a	chr2:67117702-67117709 chr2:67117702-67117709 chr2:67117702-67117709 chr2:67117698-67117714 chr2:67117695-67117716
40	GATA3	chr2:67115689-67116706	SK-N-SH	brain:	n/a	chr2:67115800-67115811 chr2:67116562-67116575 chr2:67116014-67116023 chr2:67116565-67116573 chr2:67116014-67116021
41	JUN	chr2:67116733-67116739	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAFF	chr2:67115396-67115741	HepG2	liver:	n/a	n/a
43	MAFF	chr2:67115461-67115710	K562	blood:	n/a	n/a
44	MAFK	chr2:67115395-67116598	IMR90	lung:	n/a	n/a
45	MAFK	chr2:67115393-67115744	HepG2	liver:	n/a	n/a
46	MAFK	chr2:67115491-67115688	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAFK	chr2:67115460-67115690	K562	blood:	n/a	n/a
48	MAFK	chr2:67115410-67115745	HepG2	liver:	n/a	n/a
49	MEF2A	chr2:67124332-67124830	SK-N-SH	brain:	n/a	n/a
50	MYC	chr2:67116410-67116666	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:67124452-67124502	Caco-2	colon:	n/a
2	chr2:67116039-67116089	Hepatocyte	liver:	n/a
3	chr2:67116039-67116089	HRPEpiC	eye:	n/a
4	chr2:67116039-67116089	A549	lung:	n/a
5	chr2:67130784-67130834	BE2_C	brain:	n/a
6	chr2:67130784-67130834	SK-N-SH_RA	brain:	n/a
7	chr2:67130784-67130834	AG10803	skin:	n/a
8	chr2:67130784-67130834	A549	lung:	n/a
9	chr2:67124452-67124502	LNCaP	prostate:	n/a
10	chr2:67130784-67130834	IMR90	lung:	fetal
11	chr2:67124452-67124502	T-47D	breast:	n/a
12	chr2:67130784-67130834	HUVEC	blood vessel:	n/a
13	chr2:67116039-67116089	ovcar-3	ovarian:	n/a
14	chr2:67124452-67124502	AG10803	skin:	n/a
15	chr2:67116039-67116089	GM12891	blood:	n/a
16	chr2:67124452-67124502	Hela-S3	cervix:	n/a
17	chr2:67124452-67124502	SK-N-MC	brain:	n/a
18	chr2:67130784-67130834	AG09319	gingival:	n/a
19	chr2:67116039-67116089	GM12878	blood:	n/a
20	chr2:67116039-67116089	T-47D	breast:	n/a
21	chr2:67124452-67124502	AoSMC	blood vessel:	n/a
22	chr2:67116039-67116089	HCPEpiC	choroid plexus:	n/a
23	chr2:67124452-67124502	ovcar-3	ovarian:	n/a
24	chr2:67124452-67124502	SAEC	small airway:	n/a
25	chr2:67116039-67116089	HAEpiC	amniotic membrane:	n/a
26	chr2:67116039-67116089	NT2-D1	testis:	n/a
27	chr2:67124452-67124502	HRPEpiC	eye:	n/a
28	chr2:67116039-67116089	SK-N-SH	brain:	n/a
29	chr2:67116039-67116089	SK-N-SH_RA	brain:	n/a
30	chr2:67130784-67130834	HIPEpiC	eye:	n/a
31	chr2:67116039-67116089	AG09319	gingival:	n/a
32	chr2:67124452-67124502	HepG2	liver:	n/a
33	chr2:67130784-67130834	HCPEpiC	choroid plexus:	n/a
34	chr2:67130784-67130834	ECC-1	luminal epithelium:	n/a
35	chr2:67116039-67116089	ProgFib	skin:	n/a
36	chr2:67116039-67116089	HEEpiC	esophagus:	n/a
37	chr2:67130784-67130834	AG04449	skin:	fetal
38	chr2:67124452-67124502	NHBE	bronchial:	n/a
39	chr2:67130784-67130834	Jurkat	blood:	n/a
40	chr2:67124452-67124502	BJ	skin:	n/a
41	chr2:67124452-67124502	SK-N-SH_RA	brain:	n/a
42	chr2:67130784-67130834	PANC-1	pancreas:	n/a
43	chr2:67130784-67130834	LNCaP	prostate:	n/a
44	chr2:67116039-67116089	U87	brain:	n/a
45	chr2:67124452-67124502	A549	lung:	n/a
46	chr2:67124452-67124502	PrEC	prostate:	n/a
47	chr2:67116039-67116089	K562	blood:	n/a
48	chr2:67130784-67130834	HCT-116	colon:	n/a
49	chr2:67124452-67124502	SK-N-SH	brain:	n/a
50	chr2:67116039-67116089	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:67121252..67123369-chr2:67127178..67130032,2	MCF-7	breast:
2	chr2:67121252..67123369-chr2:67127178..67130032,2	MCF-7	breast:
3	chr2:67099463..67101365-chr2:67115070..67117107,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MEIS1-5	chr2:67131568-67131601	ENSG00000230525
2	lnc-MEIS1-11	chr2:67121182-67121701	NONHSAT071248
3	lnc-MEIS1-5	chr2:67131568-67131601	NR_110169
4	lnc-MEIS1-11	chr2:67122556-67122602	NONHSAT071248

Variant related genes	Relation type
ENSG00000230355	TF binding region
ENSG00000230525	TF binding region
ENSG00000230355	CpG island
ENSG00000230525	CpG island

Extended variants
information (count: 912 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:912 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13020124	chr2:67105342-67105343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572912248	chr2:67105385-67105386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78787104	chr2:67105401-67105402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574293000	chr2:67105447-67105448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536698537	chr2:67105475-67105476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555603327	chr2:67105510-67105511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553502008	chr2:67105537-67105538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573328278	chr2:67105553-67105554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1559602	chr2:67105568-67105569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565311427	chr2:67105633-67105634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577835522	chr2:67105723-67105724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543331697	chr2:67105724-67105725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530978870	chr2:67105726-67105727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563093416	chr2:67105764-67105765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529048452	chr2:67105781-67105782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201748437	chr2:67105844-67105845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368625813	chr2:67105885-67105886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548804629	chr2:67105940-67105941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559165979	chr2:67105964-67105965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77698334	chr2:67105971-67105972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551061227	chr2:67105996-67105997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571237953	chr2:67106007-67106008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564298860	chr2:67106036-67106037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111953077	chr2:67106060-67106061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377587367	chr2:67106067-67106068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537699231	chr2:67106083-67106084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551299964	chr2:67106110-67106111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568006235	chr2:67106117-67106118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17632177	chr2:67106148-67106149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs367884938	chr2:67106184-67106185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553566301	chr2:67106224-67106225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540572443	chr2:67106255-67106256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71409195	chr2:67106257-67106258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71891828	chr2:67106265-67106266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3030940	chr2:67106291-67106292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75948460	chr2:67106292-67106293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs33993416	chr2:67106293-67106294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186928917	chr2:67106336-67106337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539147290	chr2:67106389-67106390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558648283	chr2:67106414-67106415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373727011	chr2:67106416-67106417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575605925	chr2:67106452-67106453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142916851	chr2:67106563-67106564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190120850	chr2:67106618-67106619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549869291	chr2:67106626-67106627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151071499	chr2:67106632-67106633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542389614	chr2:67106634-67106635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559520385	chr2:67106697-67106698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528139375	chr2:67106724-67106725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545097070	chr2:67106741-67106742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67103800-67108000	Weak transcription	Fetal Lung	lung
2	chr2:67108000-67108800	Enhancers	Fetal Lung	lung
3	chr2:67112400-67113200	Enhancers	Rectal Smooth Muscle	rectum
4	chr2:67112400-67117800	Enhancers	Colon Smooth Muscle	Colon
5	chr2:67112600-67112800	Enhancers	Pancreas	Pancrea
6	chr2:67112600-67113200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:67112600-67113200	Enhancers	NHLF	lung
8	chr2:67112800-67113400	Enhancers	Fetal Lung	lung
9	chr2:67112800-67114800	Enhancers	Stomach Smooth Muscle	stomach
10	chr2:67112800-67124200	Weak transcription	Pancreas	Pancrea
11	chr2:67113000-67113200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:67113000-67113200	Enhancers	Fetal Stomach	stomach
13	chr2:67113200-67114400	Weak transcription	NHLF	lung
14	chr2:67113200-67114800	Weak transcription	Fetal Stomach	stomach
15	chr2:67113200-67115400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:67113200-67115800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:67113400-67113800	Weak transcription	Fetal Lung	lung
18	chr2:67113800-67115000	Enhancers	Fetal Lung	lung
19	chr2:67114400-67114800	Enhancers	NHLF	lung
20	chr2:67114800-67115000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:67114800-67115000	Enhancers	Fetal Stomach	stomach
22	chr2:67114800-67115800	Weak transcription	NHLF	lung
23	chr2:67115000-67115400	Weak transcription	Fetal Lung	lung
24	chr2:67115000-67115800	Weak transcription	Fetal Stomach	stomach
25	chr2:67115200-67115600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:67115400-67115800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:67115400-67117200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:67115400-67117200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:67115400-67117600	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:67115400-67117800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:67115400-67118800	Enhancers	Fetal Lung	lung
32	chr2:67115600-67115800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:67115600-67116200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:67115600-67116400	Enhancers	HMEC	breast
35	chr2:67115600-67116400	Enhancers	NHEK	skin
36	chr2:67115600-67116600	Enhancers	NH-A	brain
37	chr2:67115600-67117200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:67115600-67117200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:67115600-67117200	Enhancers	NHDF-Ad	bronchial
40	chr2:67115600-67117600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:67115600-67117600	Enhancers	HSMM	muscle
42	chr2:67115600-67117800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:67115600-67117800	Enhancers	Osteobl	bone
44	chr2:67115800-67116200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:67115800-67116200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:67115800-67116200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:67115800-67116200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:67115800-67116800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:67115800-67116800	Enhancers	Adipose Nuclei	Adipose
50	chr2:67115800-67117200	Enhancers	Fetal Stomach	stomach

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