Variant report

Variant	nsv889381
Chromosome Location	chr7:145252217-145379895
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:302)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:145330626-145330938	K562	blood:	n/a	chr7:145330787-145330801
2	BACH1	chr7:145330643-145330967	H1-hESC	embryonic stem cell:	n/a	chr7:145330787-145330801
3	BRCA1	chr7:145308554-145308864	Hela-S3	cervix:	n/a	n/a
4	CCNT2	chr7:145345139-145345198	K562	blood:	n/a	n/a
5	CCNT2	chr7:145285806-145286006	K562	blood:	n/a	n/a
6	CEBPB	chr7:145295695-145295906	HepG2	liver:	n/a	chr7:145295832-145295843
7	CEBPB	chr7:145304405-145304680	IMR90	lung:	n/a	chr7:145304529-145304540
8	CEBPB	chr7:145295787-145295882	K562	blood:	n/a	chr7:145295832-145295843
9	CEBPB	chr7:145352819-145353104	A549	lung:	n/a	chr7:145352937-145352948
10	CEBPB	chr7:145304379-145304690	HepG2	liver:	n/a	chr7:145304529-145304540
11	CEBPB	chr7:145295670-145295999	Hela-S3	cervix:	n/a	chr7:145295832-145295843
12	CEBPB	chr7:145304492-145304715	A549	lung:	n/a	chr7:145304529-145304540
13	CEBPB	chr7:145293174-145293829	Hela-S3	cervix:	n/a	chr7:145293571-145293584
14	CEBPB	chr7:145352785-145353050	K562	blood:	n/a	chr7:145352937-145352948
15	CEBPB	chr7:145362677-145362892	HepG2	liver:	n/a	n/a
16	CEBPB	chr7:145352767-145353108	HepG2	liver:	n/a	chr7:145352937-145352948
17	CTCF	chr7:145374234-145374274	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr7:145343880-145344030	AG10803	skin:	n/a	n/a
19	CTCF	chr7:145350376-145350416	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr7:145350360-145350510	GM12873	blood:	n/a	n/a
21	CTCF	chr7:145350320-145350470	GM12872	blood:	n/a	n/a
22	CTCF	chr7:145350280-145350430	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr7:145350300-145350450	HMF	breast:	n/a	n/a
24	CTCF	chr7:145350340-145350490	GM12867	blood:	n/a	n/a
25	CTCF	chr7:145350300-145350450	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr7:145350300-145350450	HRE	kidney:	n/a	n/a
27	CTCF	chr7:145282196-145282253	GM20000	blood:	n/a	n/a
28	CTCF	chr7:145350320-145350470	RPTEC	kidney:	n/a	n/a
29	CTCF	chr7:145350300-145350450	GM12866	blood:	n/a	n/a
30	CTCF	chr7:145350320-145350470	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr7:145350120-145350270	A549	lung:	n/a	n/a
32	CTCF	chr7:145350300-145350450	GM12875	blood:	n/a	n/a
33	CTCF	chr7:145325580-145325730	HepG2	liver:	n/a	n/a
34	CTCF	chr7:145350280-145350430	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr7:145350300-145350450	HPF	lung:	n/a	n/a
36	CTCF	chr7:145350320-145350470	HEK293	kidney:	n/a	n/a
37	CTCF	chr7:145350320-145350470	GM12874	blood:	n/a	n/a
38	CTCF	chr7:145350260-145350410	GM12872	blood:	n/a	n/a
39	CTCF	chr7:145350320-145350470	AoAF	blood vessel:	n/a	n/a
40	CTCF	chr7:145359000-145359150	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr7:145350340-145350490	A549	lung:	n/a	n/a
42	CTCF	chr7:145350300-145350450	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr7:145350280-145350430	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr7:145350315-145350461	Gliobla	brain:	n/a	n/a
45	CTCF	chr7:145350220-145350370	BE2_C	brain:	n/a	n/a
46	CTCF	chr7:145350300-145350450	GM12865	blood:	n/a	n/a
47	CTCF	chr7:145350309-145350467	MCF-7	breast:	n/a	n/a
48	CTCF	chr7:145350280-145350430	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr7:145306307-145306376	GM13976	blood:	n/a	n/a
50	CTCF	chr7:145350340-145350490	AG04450	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:145280278-145280328	Hela-S3	cervix:	n/a
2	chr7:145280278-145280328	NHBE	bronchial:	n/a
3	chr7:145280278-145280328	HCT-116	colon:	n/a
4	chr7:145280278-145280328	Hepatocyte	liver:	n/a
5	chr7:145280278-145280328	GM12891	blood:	n/a
6	chr7:145280278-145280328	H1-hESC	embryonic stem cell:	embryo
7	chr7:145280278-145280328	RPTEC	kidney:	n/a
8	chr7:145280278-145280328	AoSMC	blood vessel:	n/a
9	chr7:145280278-145280328	CMK	blood:	n/a
10	chr7:145280278-145280328	GM12892	blood:	n/a
11	chr7:145280278-145280328	HepG2	liver:	n/a
12	chr7:145280278-145280328	AG09319	gingival:	n/a
13	chr7:145280278-145280328	HCPEpiC	choroid plexus:	n/a
14	chr7:145280278-145280328	HRCEpiC	kidney:	n/a
15	chr7:145280278-145280328	LNCaP	prostate:	n/a
16	chr7:145280278-145280328	BJ	skin:	n/a
17	chr7:145280278-145280328	Jurkat	blood:	n/a
18	chr7:145280278-145280328	SK-N-SH_RA	brain:	n/a
19	chr7:145280278-145280328	SK-N-SH	brain:	n/a
20	chr7:145280278-145280328	HPAEpiC	pulmonary alveolar:	n/a
21	chr7:145280278-145280328	HCM	heart:	n/a
22	chr7:145280278-145280328	GM06990	blood:	n/a
23	chr7:145280278-145280328	AG04449	skin:	fetal
24	chr7:145280278-145280328	HCF	heart:	n/a
25	chr7:145280278-145280328	HAEpiC	amniotic membrane:	n/a
26	chr7:145280278-145280328	ovcar-3	ovarian:	n/a
27	chr7:145280278-145280328	AG10803	skin:	n/a
28	chr7:145280278-145280328	PFSK-1	brain:	n/a
29	chr7:145280278-145280328	T-47D	breast:	n/a
30	chr7:145280278-145280328	U87	brain:	n/a
31	chr7:145280278-145280328	NT2-D1	testis:	n/a
32	chr7:145280278-145280328	HIPEpiC	eye:	n/a
33	chr7:145280278-145280328	SKMC	muscle:	n/a
34	chr7:145280278-145280328	BE2_C	brain:	n/a
35	chr7:145280278-145280328	HNPCEpiC	eye:	n/a
36	chr7:145280278-145280328	HEK293	kidney:	embryo
37	chr7:145280278-145280328	Caco-2	colon:	n/a
38	chr7:145280278-145280328	AG04450	lung:	fetal
39	chr7:145280278-145280328	MCF-7	breast:	n/a
40	chr7:145280278-145280328	SK-N-MC	brain:	n/a
41	chr7:145280278-145280328	GM12878	blood:	n/a
42	chr7:145280278-145280328	SAEC	small airway:	n/a
43	chr7:145280278-145280328	HRPEpiC	eye:	n/a
44	chr7:145280278-145280328	GM19239	blood:	n/a
45	chr7:145280278-145280328	ECC-1	luminal epithelium:	n/a
46	chr7:145280278-145280328	K562	blood:	n/a
47	chr7:145280278-145280328	HRE	kidney:	n/a
48	chr7:145280278-145280328	NHDF-neo	bronchial:	n/a
49	chr7:145280278-145280328	A549	lung:	n/a
50	chr7:145280278-145280328	HEEpiC	esophagus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:145349967..145350847-chr7:145786768..145787358,3	MCF-7	breast:
2	chr7:145340289..145342911-chr7:145343463..145345865,2	K562	blood:
3	chr7:145327982..145331284-chr7:145331722..145336898,4	K562	blood:
4	chr7:145363081..145365458-chr7:145367883..145369535,2	K562	blood:
5	chr7:145329048..145330913-chr7:145333895..145335425,2	K562	blood:
6	chr7:145320589..145323367-chr7:145325718..145327864,2	K562	blood:
7	chr7:145340289..145342911-chr7:145343463..145345865,2	K562	blood:
8	chr7:145350267..145350911-chr7:145545526..145546232,2	MCF-7	breast:
9	chr7:145329048..145330913-chr7:145333895..145335425,2	K562	blood:
10	chr7:145320589..145323367-chr7:145325718..145327864,2	K562	blood:
11	chr7:145327982..145331284-chr7:145331722..145336898,4	K562	blood:
12	chr7:145363081..145365458-chr7:145367883..145369535,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TPK1-1	chr7:145372975-145373385	XLOC_006634
2	lnc-TPK1-1	chr7:145378202-145378462	XLOC_006634
3	lnc-CNTNAP2-5	chr7:145307444-145307904	expReg_chr7_11793_+

No data

Variant related genes	Relation type
ENSG00000230746	TF binding region
ENSG00000231839	TF binding region
ENSG00000230746	CpG island
ENSG00000231839	CpG island

Extended variants
information (count: 697 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:697 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13247476	chr7:145255025-145255026	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143507177	chr7:145255057-145255058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs191046204	chr7:145255061-145255062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540422754	chr7:145255102-145255103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs565579613	chr7:145255109-145255110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182742924	chr7:145255137-145255138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs550974809	chr7:145255179-145255180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs187383952	chr7:145255180-145255181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs146166419	chr7:145278699-145278700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs551602422	chr7:145278722-145278723	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs569754269	chr7:145278735-145278736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs536811777	chr7:145278736-145278737	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs148765435	chr7:145278810-145278811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs199995157	chr7:145278818-145278819	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs59926354	chr7:145278867-145278868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs6954940	chr7:145278868-145278869	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192698708	chr7:145278887-145278888	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs536985631	chr7:145278912-145278913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs552539089	chr7:145278979-145278980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs10268775	chr7:145279000-145279001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs184543394	chr7:145279010-145279011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190452480	chr7:145279142-145279143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs556977555	chr7:145279152-145279153	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs576576444	chr7:145279179-145279180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531495340	chr7:145279188-145279189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534811429	chr7:145299651-145299652	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs552912575	chr7:145299672-145299673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs137882361	chr7:145299695-145299696	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs190438898	chr7:145299746-145299747	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs377329544	chr7:145299798-145299799	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs79211105	chr7:145299825-145299826	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs141032958	chr7:145299839-145299840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs35836865	chr7:145299907-145299908	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542825036	chr7:145299940-145299941	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs554827651	chr7:145299974-145299975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs572941602	chr7:145299983-145299984	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs532521466	chr7:145307546-145307547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs114786528	chr7:145307562-145307563	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs569314108	chr7:145307581-145307582	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs569147662	chr7:145307582-145307583	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs111387465	chr7:145307590-145307591	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs191737506	chr7:145307596-145307597	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs367645150	chr7:145307597-145307598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs533354967	chr7:145307641-145307642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs566664298	chr7:145307654-145307655	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs181851911	chr7:145307707-145307708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs558608908	chr7:145307768-145307769	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs570485722	chr7:145307796-145307797	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs537426318	chr7:145307803-145307804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs555762438	chr7:145307808-145307809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145255000-145255200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:145299600-145300000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:145320800-145321400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:145321200-145322600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:145321400-145322000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:145322000-145322800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:145332600-145333000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:145340600-145341000	Enhancers	Hela-S3	cervix
9	chr7:145340800-145342200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:145341000-145341200	Flanking Active TSS	Hela-S3	cervix
11	chr7:145341200-145342400	Active TSS	Hela-S3	cervix
12	chr7:145342200-145343400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:145342400-145342600	Flanking Active TSS	Hela-S3	cervix
14	chr7:145343400-145344200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:145362000-145362200	Enhancers	Fetal Lung	lung
16	chr7:145362000-145363400	Enhancers	Fetal Stomach	stomach
17	chr7:145362000-145365000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:145362200-145366000	Weak transcription	Fetal Lung	lung
19	chr7:145362400-145363400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:145366600-145367000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr7:145366800-145367000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:145371600-145372600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:145373000-145373400	Active TSS	Right Atrium	heart
24	chr7:145373400-145375000	Weak transcription	Right Atrium	heart
25	chr7:145374600-145375200	Active TSS	Stomach Smooth Muscle	stomach
26	chr7:145375000-145378600	Active TSS	Right Atrium	heart
27	chr7:145375200-145375800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr7:145375200-145377000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:145377000-145378200	Active TSS	Stomach Smooth Muscle	stomach

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