Variant report

Variant	nsv889382
Chromosome Location	chr7:145286533-145379895
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:270)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:270 , 50 per page) page: 1 2 3 4 5 6

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	CEBPB	chr7:145362677-145362892	HepG2	liver:	n/a	n/a
6	CEBPB	chr7:145352785-145353050	K562	blood:	n/a	chr7:145352937-145352948
7	CEBPB	chr7:145304379-145304690	HepG2	liver:	n/a	chr7:145304529-145304540
8	CEBPB	chr7:145295695-145295906	HepG2	liver:	n/a	chr7:145295832-145295843
9	CEBPB	chr7:145293174-145293829	Hela-S3	cervix:	n/a	chr7:145293571-145293584
10	CEBPB	chr7:145304405-145304680	IMR90	lung:	n/a	chr7:145304529-145304540
11	CEBPB	chr7:145304492-145304715	A549	lung:	n/a	chr7:145304529-145304540
12	CEBPB	chr7:145352819-145353104	A549	lung:	n/a	chr7:145352937-145352948
13	CEBPB	chr7:145352767-145353108	HepG2	liver:	n/a	chr7:145352937-145352948
14	CEBPB	chr7:145295670-145295999	Hela-S3	cervix:	n/a	chr7:145295832-145295843
15	CEBPB	chr7:145295787-145295882	K562	blood:	n/a	chr7:145295832-145295843
16	CTCF	chr7:145350320-145350470	HPF	lung:	n/a	n/a
17	CTCF	chr7:145350320-145350470	AoAF	blood vessel:	n/a	n/a
18	CTCF	chr7:145325580-145325730	HepG2	liver:	n/a	n/a
19	CTCF	chr7:145306307-145306376	GM13976	blood:	n/a	n/a
20	CTCF	chr7:145363080-145363230	GM06990	blood:	n/a	n/a
21	CTCF	chr7:145350340-145350490	GM12864	blood:	n/a	n/a
22	CTCF	chr7:145350300-145350450	HMF	breast:	n/a	n/a
23	CTCF	chr7:145350320-145350470	NHEK	skin:	n/a	n/a
24	CTCF	chr7:145350320-145350470	HEK293	kidney:	n/a	n/a
25	CTCF	chr7:145350680-145350830	HEK293	kidney:	n/a	n/a
26	CTCF	chr7:145350180-145350330	HCT-116	colon:	n/a	n/a
27	CTCF	chr7:145350280-145350430	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr7:145350300-145350450	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr7:145350280-145350430	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr7:145350320-145350470	K562	blood:	n/a	n/a
31	CTCF	chr7:145350300-145350450	AG10803	skin:	n/a	n/a
32	CTCF	chr7:145350351-145350435	HepG2	liver:	n/a	n/a
33	CTCF	chr7:145343880-145344030	AG10803	skin:	n/a	n/a
34	CTCF	chr7:145350300-145350450	Caco-2	colon:	n/a	n/a
35	CTCF	chr7:145359000-145359150	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr7:145350340-145350490	Caco-2	colon:	n/a	n/a
37	CTCF	chr7:145350260-145350410	GM12874	blood:	n/a	n/a
38	CTCF	chr7:145350300-145350450	MCF-7	breast:	n/a	n/a
39	CTCF	chr7:145314980-145315130	HMF	breast:	n/a	n/a
40	CTCF	chr7:145350320-145350470	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr7:145350120-145350270	A549	lung:	n/a	n/a
42	CTCF	chr7:145350320-145350470	RPTEC	kidney:	n/a	n/a
43	CTCF	chr7:145350320-145350470	HPAF	blood vessel:	n/a	n/a
44	CTCF	chr7:145350220-145350546	GM12878	blood:	n/a	n/a
45	CTCF	chr7:145350370-145350418	GM13977	blood:	n/a	n/a
46	CTCF	chr7:145350300-145350450	GM12866	blood:	n/a	n/a
47	CTCF	chr7:145350320-145350470	HCFaa	heart:	n/a	n/a
48	CTCF	chr7:145350300-145350450	HA-sp	spinal cord:	n/a	n/a
49	CTCF	chr7:145350306-145350487	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr7:145350320-145350470	GM12873	blood:	n/a	n/a

No data

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

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

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

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

No data

Variant related genes	Relation type
ENSG00000230746	TF binding region

Extended variants
information (count: 672 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:672 , 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	rs534811429	chr7:145299651-145299652	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs552912575	chr7:145299672-145299673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs137882361	chr7:145299695-145299696	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs190438898	chr7:145299746-145299747	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs377329544	chr7:145299798-145299799	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs79211105	chr7:145299825-145299826	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs141032958	chr7:145299839-145299840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs35836865	chr7:145299907-145299908	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542825036	chr7:145299940-145299941	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs554827651	chr7:145299974-145299975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs572941602	chr7:145299983-145299984	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs532521466	chr7:145307546-145307547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs114786528	chr7:145307562-145307563	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs569314108	chr7:145307581-145307582	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs569147662	chr7:145307582-145307583	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs111387465	chr7:145307590-145307591	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs191737506	chr7:145307596-145307597	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs367645150	chr7:145307597-145307598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs533354967	chr7:145307641-145307642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs566664298	chr7:145307654-145307655	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs181851911	chr7:145307707-145307708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs558608908	chr7:145307768-145307769	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs570485722	chr7:145307796-145307797	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs537426318	chr7:145307803-145307804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs555762438	chr7:145307808-145307809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs547169609	chr7:145307810-145307811	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs850503	chr7:145307813-145307814	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs538910703	chr7:145307815-145307816	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs555010533	chr7:145307831-145307832	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs547667292	chr7:145307850-145307851	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs573377271	chr7:145307865-145307866	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs73736505	chr7:145307900-145307901	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139719596	chr7:145320846-145320847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371086819	chr7:145320850-145320851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551710862	chr7:145320867-145320868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570111340	chr7:145320910-145320911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115855290	chr7:145320921-145320922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550977323	chr7:145320961-145320962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569562269	chr7:145321102-145321103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536410163	chr7:145321152-145321153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555210300	chr7:145321154-145321155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566923639	chr7:145321181-145321182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10234759	chr7:145321200-145321201	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs186209111	chr7:145321237-145321238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116802783	chr7:145321259-145321260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148293374	chr7:145321279-145321280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541850515	chr7:145321286-145321287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556153957	chr7:145321293-145321294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79062220	chr7:145321304-145321305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149960176	chr7:145321350-145321351	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	22522925	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:28 , 50 per page) page: 1

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

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