Variant report

Variant	nsv3147
Chromosome Location	chr2:211281479-211326844
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	ARID3A	chr2:211309842-211310183	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:211309814-211310221	K562	blood:	n/a	n/a
3	BACH1	chr2:211294500-211294839	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:211286783-211287060	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:211294520-211294849	K562	blood:	n/a	n/a
6	BCL11A	chr2:211326311-211326559	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:211321280-211321409	GM12878	blood:	n/a	n/a
8	BHLHE40	chr2:211307388-211307439	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:211325213-211325605	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:211326164-211326485	GM12878	blood:	n/a	n/a
11	CBX3	chr2:211292036-211292373	K562	blood:	n/a	n/a
12	CEBPB	chr2:211293146-211293441	IMR90	lung:	n/a	chr2:211293429-211293440 chr2:211293429-211293440
13	CEBPB	chr2:211319688-211319986	HepG2	liver:	n/a	chr2:211319833-211319844
14	CEBPB	chr2:211319783-211319906	H1-hESC	embryonic stem cell:	n/a	chr2:211319833-211319844
15	CEBPB	chr2:211293130-211293810	Hela-S3	cervix:	n/a	chr2:211293429-211293440 chr2:211293429-211293440 chr2:211293662-211293675
16	CEBPB	chr2:211320230-211320472	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:211319713-211319903	Hela-S3	cervix:	n/a	chr2:211319833-211319844
18	CEBPB	chr2:211319680-211319980	IMR90	lung:	n/a	chr2:211319833-211319844
19	CHD1	chr2:211326040-211326461	GM12878	blood:	n/a	n/a
20	CHD1	chr2:211325203-211325551	GM12878	blood:	n/a	n/a
21	CHD2	chr2:211325164-211326895	GM12878	blood:	n/a	n/a
22	CHD2	chr2:211321198-211321376	GM12878	blood:	n/a	n/a
23	CTCF	chr2:211310260-211310410	HVMF	connective:	n/a	n/a
24	CTCF	chr2:211309980-211310130	GM12872	blood:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
25	CTCF	chr2:211309940-211310090	HEK293	kidney:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
26	CTCF	chr2:211309960-211310110	HMEC	breast:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
27	CTCF	chr2:211286540-211286690	HCM	heart:	n/a	n/a
28	CTCF	chr2:211309924-211310172	HepG2	liver:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
29	CTCF	chr2:211309930-211310137	LNCaP	prostate:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
30	CTCF	chr2:211309980-211310130	HFF	foreskin:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
31	CTCF	chr2:211309960-211310110	HRPEpiC	eye:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
32	CTCF	chr2:211309980-211310130	HMF	breast:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
33	CTCF	chr2:211309960-211310110	BE2_C	brain:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
34	CTCF	chr2:211309980-211310130	GM06990	blood:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
35	CTCF	chr2:211309980-211310130	AG09319	gingival:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
36	CTCF	chr2:211309960-211310110	AG10803	skin:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
37	CTCF	chr2:211310040-211310190	GM12864	blood:	n/a	n/a
38	CTCF	chr2:211309932-211310132	MCF-7	breast:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
39	CTCF	chr2:211309920-211310070	GM12878	blood:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
40	CTCF	chr2:211309840-211309990	NHLF	lung:	n/a	n/a
41	CTCF	chr2:211309960-211310110	HCPEpiC	choroid plexus:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
42	CTCF	chr2:211309955-211310105	GM20000	blood:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
43	CTCF	chr2:211309928-211310143	GM13977	blood:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
44	CTCF	chr2:211309940-211310090	HEEpiC	esophagus:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
45	CTCF	chr2:211309877-211310159	SK-N-SH_RA	brain:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
46	CTCF	chr2:211310000-211310150	HAc	cerebellar:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
47	CTCF	chr2:211309980-211310130	AG04449	skin:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
48	CTCF	chr2:211309960-211310110	GM12871	blood:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
49	CTCF	chr2:211310000-211310150	HCM	heart:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041
50	CTCF	chr2:211309960-211310110	GM12864	blood:	n/a	chr2:211310031-211310047 chr2:211310030-211310048 chr2:211310032-211310053 chr2:211310034-211310041

No.	Distal block	Cell Line	Cell type
1	chr2:211325572..211327768-chr2:211338184..211340482,2	K562	blood:
2	chr2:211317350..211319855-chr2:211325958..211327508,2	MCF-7	breast:
3	chr2:211309754..211310533-chr2:211481854..211482775,2	MCF-7	breast:
4	chr2:211320066..211322209-chr2:211344355..211345928,2	MCF-7	breast:
5	chr2:211293517..211296433-chr2:211339377..211342364,2	MCF-7	breast:
6	chr2:211317350..211319855-chr2:211325958..211327508,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPS1-1	chr2:211294089-211294175	ENSG00000234281.1
2	lnc-CPS1-1	chr2:211292473-211292647	ENSG00000234281.1
3	lnc-CPS1-1	chr2:211325199-211325606	ENSG00000234281.1
4	lnc-CPS1-1	chr2:211294089-211294175	ENSG00000234281.1
5	lnc-CPS1-1	chr2:211307266-211307423	ENSG00000234281.1
6	lnc-CPS1-1	chr2:211325199-211325267	ENSG00000234281.1
7	lnc-CPS1-1	chr2:211292764-211292881	ENSG00000234281.1
8	lnc-CPS1-1	chr2:211325199-211325267	ENSG00000234281.1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LANCL1	hsa-miR-7-5p	chr2:211299139-211299165

Variant related genes	Relation type
ENSG00000234281	TF binding region
LANCL1	TF binding region
ENSG00000115365	chromatin interactions

Extended variants
information (count: 1700 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1700 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563173627	chr2:211281652-211281653	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531945447	chr2:211281761-211281762	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548790823	chr2:211281799-211281800	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568714019	chr2:211281822-211281823	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527888041	chr2:211281828-211281829	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547473532	chr2:211281841-211281842	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570467538	chr2:211281852-211281853	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539394064	chr2:211281895-211281896	ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549541226	chr2:211282007-211282008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569919967	chr2:211282036-211282037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189943327	chr2:211282081-211282082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555140965	chr2:211282088-211282089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141635269	chr2:211282107-211282108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572805422	chr2:211282109-211282110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534519703	chr2:211282114-211282115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553816552	chr2:211282184-211282185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551030039	chr2:211282243-211282244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546161473	chr2:211282262-211282263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562783972	chr2:211282304-211282305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576670605	chr2:211282314-211282315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542493153	chr2:211282380-211282381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112026056	chr2:211282390-211282391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181396459	chr2:211282398-211282399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527850804	chr2:211282404-211282405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79990541	chr2:211282434-211282435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564188767	chr2:211282509-211282510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141705668	chr2:211282546-211282547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12469589	chr2:211282562-211282563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569597468	chr2:211282564-211282565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535084904	chr2:211282605-211282606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548825350	chr2:211282623-211282624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146237717	chr2:211282645-211282646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565653633	chr2:211282658-211282659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564711765	chr2:211282698-211282699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368487914	chr2:211282749-211282750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139332065	chr2:211282761-211282762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534486247	chr2:211282779-211282780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531952496	chr2:211282781-211282782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149797322	chr2:211282802-211282803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185414498	chr2:211282824-211282825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543504565	chr2:211282826-211282827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539594831	chr2:211282835-211282836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556619386	chr2:211282889-211282890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189880194	chr2:211282901-211282902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180829774	chr2:211282916-211282917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373427751	chr2:211282945-211282946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562339391	chr2:211282946-211282947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376607088	chr2:211283043-211283044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541624627	chr2:211283048-211283049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564567293	chr2:211283089-211283090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1175 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211281600-211281800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:211281600-211281800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
3	chr2:211281600-211282000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:211281600-211282000	Enhancers	Pancreas	Pancrea
5	chr2:211281600-211282200	Enhancers	Psoas Muscle	Psoas
6	chr2:211281800-211282000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:211281800-211282000	Enhancers	Esophagus	oesophagus
8	chr2:211281800-211282200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:211282200-211282400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:211282200-211286800	Weak transcription	Psoas Muscle	Psoas
11	chr2:211282200-211286800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:211284000-211284200	Enhancers	Fetal Heart	heart
13	chr2:211284200-211286200	Weak transcription	Fetal Heart	heart
14	chr2:211286200-211286600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:211286200-211286600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:211286200-211288800	Enhancers	Fetal Heart	heart
17	chr2:211286400-211286800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr2:211286400-211287000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:211286400-211287000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:211286400-211287200	Enhancers	Brain Substantia Nigra	brain
21	chr2:211286400-211287200	Enhancers	HMEC	breast
22	chr2:211286400-211287400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr2:211286400-211287400	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:211286400-211287400	Enhancers	HSMM	muscle
25	chr2:211286400-211287400	Enhancers	HSMMtube	muscle
26	chr2:211286400-211287400	Enhancers	NH-A	brain
27	chr2:211286400-211287800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:211286600-211286800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:211286600-211287000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:211286600-211287000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:211286600-211287000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr2:211286600-211287000	Enhancers	Right Atrium	heart
33	chr2:211286600-211287200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:211286600-211287200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:211286600-211287200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:211286600-211287200	Enhancers	Brain Hippocampus Middle	brain
37	chr2:211286600-211287200	Enhancers	Placenta	Placenta
38	chr2:211286600-211287600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:211286800-211287000	Enhancers	Brain Angular Gyrus	brain
40	chr2:211286800-211287000	Enhancers	Brain Anterior Caudate	brain
41	chr2:211286800-211287000	Enhancers	Ovary	ovary
42	chr2:211286800-211287200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:211286800-211287200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:211286800-211287400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr2:211286800-211287400	Enhancers	Psoas Muscle	Psoas
46	chr2:211286800-211287600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr2:211287000-211287200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:211287000-211287400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:211287000-211287600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:211287000-211291200	Weak transcription	Ovary	ovary

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