Variant report

Variant	nsv872740
Chromosome Location	chr1:189765121-189883637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:450)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:189849426-189849494	K562	blood:	n/a	n/a
2	ATF1	chr1:189869294-189869344	K562	blood:	n/a	n/a
3	BACH1	chr1:189774960-189775194	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr1:189821289-189821443	GM12878	blood:	n/a	n/a
5	CBX3	chr1:189828545-189828884	K562	blood:	n/a	n/a
6	CBX3	chr1:189828579-189828874	K562	blood:	n/a	n/a
7	CEBPB	chr1:189769201-189769380	A549	lung:	n/a	chr1:189769331-189769342 chr1:189769332-189769343
8	CEBPB	chr1:189818371-189818983	HepG2	liver:	n/a	chr1:189818808-189818821
9	CEBPB	chr1:189864066-189864360	HepG2	liver:	n/a	chr1:189864217-189864230 chr1:189864219-189864228 chr1:189864217-189864228 chr1:189864219-189864228 chr1:189864219-189864228 chr1:189864218-189864229 chr1:189864219-189864228
10	CEBPB	chr1:189769228-189769482	HepG2	liver:	n/a	chr1:189769331-189769342 chr1:189769332-189769343
11	CEBPB	chr1:189837043-189837350	A549	lung:	n/a	n/a
12	CEBPB	chr1:189864108-189864385	IMR90	lung:	n/a	chr1:189864217-189864230 chr1:189864219-189864228 chr1:189864217-189864228 chr1:189864219-189864228 chr1:189864219-189864228 chr1:189864218-189864229 chr1:189864219-189864228
13	CEBPB	chr1:189818364-189818608	A549	lung:	n/a	n/a
14	CHD1	chr1:189867799-189867825	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr1:189828659-189828858	GM12878	blood:	n/a	n/a
16	CTCF	chr1:189828640-189828790	HEK293	kidney:	n/a	n/a
17	CTCF	chr1:189828657-189828794	Fibrobl	skin:	n/a	n/a
18	CTCF	chr1:189828660-189828810	WI-38	lung:	n/a	n/a
19	CTCF	chr1:189828660-189828810	GM12867	blood:	n/a	n/a
20	CTCF	chr1:189828600-189828750	AG09309	skin:	n/a	n/a
21	CTCF	chr1:189828680-189828830	HRE	kidney:	n/a	n/a
22	CTCF	chr1:189772660-189772810	HCT-116	colon:	n/a	n/a
23	CTCF	chr1:189828583-189828852	GM12892	blood:	n/a	n/a
24	CTCF	chr1:189828640-189828790	AG09319	gingival:	n/a	n/a
25	CTCF	chr1:189828446-189829084	SK-N-SH	brain:	n/a	n/a
26	CTCF	chr1:189772540-189772690	GM12866	blood:	n/a	n/a
27	CTCF	chr1:189772560-189772710	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr1:189828507-189828906	IMR90	lung:	n/a	n/a
29	CTCF	chr1:189772560-189772710	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:189828600-189828750	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr1:189828640-189828790	GM12868	blood:	n/a	n/a
32	CTCF	chr1:189828599-189828823	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:189828490-189828921	GM12878	blood:	n/a	n/a
34	CTCF	chr1:189828640-189828790	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr1:189828600-189828750	AG04450	lung:	n/a	n/a
36	CTCF	chr1:189828620-189828770	MCF-7	breast:	n/a	n/a
37	CTCF	chr1:189828600-189828750	NHLF	lung:	n/a	n/a
38	CTCF	chr1:189828640-189828790	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr1:189828582-189828827	MCF-7	breast:	n/a	n/a
40	CTCF	chr1:189828620-189828770	GM12874	blood:	n/a	n/a
41	CTCF	chr1:189828600-189828750	Caco-2	colon:	n/a	n/a
42	CTCF	chr1:189829765-189829808	Fibrobl	skin:	n/a	n/a
43	CTCF	chr1:189828620-189828770	GM12873	blood:	n/a	n/a
44	CTCF	chr1:189828456-189829076	A549	lung:	n/a	n/a
45	CTCF	chr1:189828620-189828770	HCM	heart:	n/a	n/a
46	CTCF	chr1:189828569-189828830	K562	blood:	n/a	n/a
47	CTCF	chr1:189828563-189828832	GM10266	blood:	n/a	n/a
48	CTCF	chr1:189828540-189828690	HFF-Myc	foreskin:	n/a	n/a
49	CTCF	chr1:189828620-189828770	GM12871	blood:	n/a	n/a
50	CTCF	chr1:189828620-189828770	Hela-S3	cervix:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189790429..189793066-chr1:189800961..189802500,2	MCF-7	breast:
2	chr1:189778329..189781313-chr1:189784587..189786793,2	MCF-7	breast:
3	chr1:189853792..189857239-chr1:189857756..189861653,3	MCF-7	breast:
4	chr1:189790429..189793066-chr1:189800961..189802500,2	MCF-7	breast:
5	chr1:189778329..189781313-chr1:189784587..189786793,2	MCF-7	breast:
6	chr1:189828427..189829123-chr1:190093339..190093859,2	MCF-7	breast:
7	chr1:189844299..189845892-chr1:189850457..189852405,2	MCF-7	breast:
8	chr1:189813747..189815721-chr1:189850350..189852733,2	K562	blood:
9	chr1:189117678..189120245-chr1:189847842..189850269,2	K562	blood:
10	chr1:189844299..189845892-chr1:189850457..189852405,2	MCF-7	breast:
11	chr1:189853792..189857239-chr1:189857756..189861653,3	MCF-7	breast:
12	chr1:189813747..189815721-chr1:189850350..189852733,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-1	chr1:189837457-189837658	XLOC_001130
2	lnc-RGS18-7	chr1:189783962-189784048	XLOC_000503
3	lnc-FAM5C-1	chr1:189837131-189837342	XLOC_001130

No data

Variant related genes	Relation type
ENSG00000238270	TF binding region
SOX2	miRNA target sites

Extended variants
information (count: 1566 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1566 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1578142	chr1:189765121-189765122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376279749	chr1:189765152-189765153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113403773	chr1:189765169-189765170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566121988	chr1:189765172-189765173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534079742	chr1:189765177-189765178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372183007	chr1:189765178-189765179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113034569	chr1:189765212-189765213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567140895	chr1:189765221-189765222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12733496	chr1:189765244-189765245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12750969	chr1:189765245-189765246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536013143	chr1:189765262-189765263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553261826	chr1:189765318-189765319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185671921	chr1:189765322-189765323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538666151	chr1:189765336-189765337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564672784	chr1:189765357-189765358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201107853	chr1:189765359-189765360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145996691	chr1:189765360-189765361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558263299	chr1:189765385-189765386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190224341	chr1:189773465-189773466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149663060	chr1:189773466-189773467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114395305	chr1:189773471-189773472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532313265	chr1:189773523-189773524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552522725	chr1:189773538-189773539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145443461	chr1:189773600-189773601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369308484	chr1:189773641-189773642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531242752	chr1:189773655-189773656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548165403	chr1:189773656-189773657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73057658	chr1:189773693-189773694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533896692	chr1:189773811-189773812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181504630	chr1:189773812-189773813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570732209	chr1:189773824-189773825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539619766	chr1:189773849-189773850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556470907	chr1:189774009-189774010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576662371	chr1:189774015-189774016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372791038	chr1:189774018-189774019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73057660	chr1:189774046-189774047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113622157	chr1:189774126-189774127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541555265	chr1:189774146-189774147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369328543	chr1:189774149-189774150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372650331	chr1:189774153-189774154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540909642	chr1:189774175-189774176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577138328	chr1:189774184-189774185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532615716	chr1:189774199-189774200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555751795	chr1:189774605-189774606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566088693	chr1:189774617-189774618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117264196	chr1:189774618-189774619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558319378	chr1:189774624-189774625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554930900	chr1:189774641-189774642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11802601	chr1:189774645-189774646	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12120641	chr1:189774673-189774674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189761800-189765400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:189773400-189773800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:189773400-189773800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:189773400-189773800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:189773400-189774000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:189773400-189774000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:189773400-189774000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:189773400-189774000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:189773400-189774000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:189773400-189774200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:189773600-189774000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:189774600-189775800	Enhancers	HUVEC	blood vessel
13	chr1:189774800-189775600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:189785400-189786000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:189785600-189786000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:189785600-189786200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:189785600-189786200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:189785600-189786200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:189785800-189786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:189785800-189786200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:189786200-189789400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:189786200-189789800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:189786200-189789800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:189786200-189790000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:189789000-189789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:189789400-189790800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:189789400-189792800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:189789800-189790200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:189789800-189790200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:189789800-189790600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr1:189790000-189791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:189790200-189791200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:189790800-189791600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:189791200-189791400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:189791600-189791800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:189801800-189804400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:189802000-189803200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:189803200-189804000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:189804000-189804200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:189806400-189806800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr1:189819400-189819800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:189819600-189821400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:189820200-189821400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:189828600-189829200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr1:189828600-189830800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:189829200-189829800	ZNF genes & repeats	Pancreas	Pancrea
47	chr1:189837200-189837600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:189839800-189841000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:189840000-189841000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr1:189840000-189841200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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