Variant report

Variant	nsv888648
Chromosome Location	chr7:85055666-85117732
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	chr7:85055557-85056303	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:85104858-85105209	HepG2	liver:	n/a	n/a
3	ATF1	chr7:85100263-85100337	K562	blood:	n/a	n/a
4	ATF2	chr7:85103479-85103831	GM12878	blood:	n/a	n/a
5	BACH1	chr7:85077761-85077773	K562	blood:	n/a	n/a
6	BATF	chr7:85101094-85101354	GM12878	blood:	n/a	n/a
7	BATF	chr7:85103571-85103842	GM12878	blood:	n/a	chr7:85103811-85103820
8	BATF	chr7:85103539-85103766	GM12878	blood:	n/a	n/a
9	BHLHE40	chr7:85055776-85056346	HepG2	liver:	n/a	n/a
10	BRCA1	chr7:85056041-85056112	HepG2	liver:	n/a	n/a
11	CEBPB	chr7:85087471-85087748	HepG2	liver:	n/a	chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087605 chr7:85087596-85087605 chr7:85087594-85087605 chr7:85087596-85087607 chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087607 chr7:85087594-85087607
12	CEBPB	chr7:85097504-85097820	IMR90	lung:	n/a	chr7:85097670-85097681
13	CEBPB	chr7:85056004-85056320	IMR90	lung:	n/a	chr7:85056185-85056196
14	CEBPB	chr7:85087476-85087634	H1-hESC	embryonic stem cell:	n/a	chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087605 chr7:85087596-85087605 chr7:85087594-85087605 chr7:85087596-85087607 chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087607 chr7:85087594-85087607
15	CEBPB	chr7:85097568-85097756	H1-hESC	embryonic stem cell:	n/a	chr7:85097670-85097681
16	CEBPB	chr7:85097511-85097798	HepG2	liver:	n/a	chr7:85097670-85097681
17	CEBPB	chr7:85087413-85087769	IMR90	lung:	n/a	chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087605 chr7:85087596-85087605 chr7:85087594-85087605 chr7:85087596-85087607 chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087607 chr7:85087594-85087607
18	CEBPB	chr7:85055686-85056382	HepG2	liver:	n/a	chr7:85056185-85056196
19	CEBPB	chr7:85055704-85056676	HepG2	liver:	n/a	chr7:85056185-85056196
20	CEBPB	chr7:85112580-85112982	IMR90	lung:	n/a	chr7:85112763-85112774 chr7:85112762-85112775
21	CEBPB	chr7:85066956-85067250	HepG2	liver:	n/a	chr7:85067120-85067131 chr7:85067122-85067133 chr7:85067120-85067133 chr7:85067122-85067131
22	CEBPB	chr7:85100482-85101837	IMR90	lung:	n/a	n/a
23	CEBPB	chr7:85056069-85056256	HepG2	liver:	n/a	chr7:85056185-85056196
24	CEBPB	chr7:85087499-85087717	A549	lung:	n/a	chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087605 chr7:85087596-85087605 chr7:85087594-85087605 chr7:85087596-85087607 chr7:85087596-85087605 chr7:85087594-85087607 chr7:85087596-85087607 chr7:85087594-85087607
25	CEBPB	chr7:85066986-85067213	K562	blood:	n/a	chr7:85067120-85067131 chr7:85067122-85067133 chr7:85067120-85067133 chr7:85067122-85067131
26	CEBPB	chr7:85099134-85099356	HepG2	liver:	n/a	n/a
27	CEBPB	chr7:85112647-85112891	A549	lung:	n/a	chr7:85112763-85112774 chr7:85112762-85112775
28	CEBPB	chr7:85066988-85067237	A549	lung:	n/a	chr7:85067120-85067131 chr7:85067122-85067133 chr7:85067120-85067133 chr7:85067122-85067131
29	CEBPB	chr7:85112594-85112955	Hela-S3	cervix:	n/a	chr7:85112763-85112774 chr7:85112762-85112775
30	CEBPB	chr7:85067006-85067267	IMR90	lung:	n/a	chr7:85067120-85067131 chr7:85067122-85067133 chr7:85067120-85067133 chr7:85067122-85067131
31	CEBPB	chr7:85112607-85112957	HepG2	liver:	n/a	chr7:85112763-85112774 chr7:85112762-85112775
32	CHD2	chr7:85055687-85056104	HepG2	liver:	n/a	n/a
33	CTCF	chr7:85093960-85094110	NHEK	skin:	n/a	n/a
34	CTCF	chr7:85093920-85094070	HAc	cerebellar:	n/a	n/a
35	CTCF	chr7:85100840-85100990	HCPEpiC	choroid plexus:	n/a	chr7:85100891-85100909 chr7:85100886-85100907
36	CTCF	chr7:85093820-85093970	HVMF	connective:	n/a	n/a
37	CTCF	chr7:85085700-85085850	Caco-2	colon:	n/a	n/a
38	CTCF	chr7:85093680-85093830	HVMF	connective:	n/a	chr7:85093770-85093791
39	CTCF	chr7:85093580-85093730	GM12878	blood:	n/a	n/a
40	CTCF	chr7:85094140-85094290	BE2_C	brain:	n/a	n/a
41	CTCF	chr7:85093720-85093870	AG04450	lung:	n/a	chr7:85093770-85093791
42	CTCF	chr7:85093479-85093563	GM13977	blood:	n/a	n/a
43	CTCF	chr7:85093556-85093912	HCT-116	colon:	n/a	chr7:85093770-85093791
44	CTCF	chr7:85093480-85093630	BE2_C	brain:	n/a	n/a
45	CTCF	chr7:85093980-85094130	GM12872	blood:	n/a	n/a
46	CTCF	chr7:85093640-85093790	AoAF	blood vessel:	n/a	n/a
47	CTCF	chr7:85100800-85100950	HPAF	blood vessel:	n/a	chr7:85100891-85100909 chr7:85100886-85100907
48	CTCF	chr7:85093960-85094110	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr7:85111460-85111610	BE2_C	brain:	n/a	n/a
50	CTCF	chr7:85085708-85085836	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:85056336..85059058-chr7:85072984..85075218,2	K562	blood:
2	chr7:85056336..85059058-chr7:85072984..85075218,2	K562	blood:
3	chr7:85111683..85113494-chr7:85114215..85116329,2	MCF-7	breast:
4	chr7:85109548..85112253-chr7:85116384..85119002,2	K562	blood:
5	chr7:85111683..85113494-chr7:85114215..85116329,2	MCF-7	breast:
6	chr7:85109548..85112253-chr7:85116384..85119002,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRM3-1	chr7:85079176-85079305	XLOC_006160
2	lnc-GRM3-1	chr7:85104568-85104676	XLOC_006160
3	lnc-GRM3-1	chr7:85104543-85104676	XLOC_006160

Variant related genes	Relation type
LINC00972	TF binding region
FAM135A	miRNA target sites

Extended variants
information (count: 1407 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1407 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2463484	chr7:85055666-85055667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569882243	chr7:85055671-85055672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535732685	chr7:85055698-85055699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11526250	chr7:85055709-85055710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572209218	chr7:85055724-85055725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539221827	chr7:85055762-85055763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141329961	chr7:85055765-85055766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537426018	chr7:85055785-85055786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146991048	chr7:85055836-85055837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543442194	chr7:85055878-85055879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574143982	chr7:85055889-85055890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562109036	chr7:85055896-85055897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34259862	chr7:85055909-85055910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138077358	chr7:85055946-85055947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541716904	chr7:85055953-85055954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559747163	chr7:85055971-85055972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116870780	chr7:85055972-85055973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527723189	chr7:85055976-85055977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182530073	chr7:85055983-85055984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79868586	chr7:85055994-85055995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149102212	chr7:85056030-85056031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1608484	chr7:85056043-85056044	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568057656	chr7:85056144-85056145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535060961	chr7:85056178-85056179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547694336	chr7:85056179-85056180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565607017	chr7:85056206-85056207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185298408	chr7:85056224-85056225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553551164	chr7:85056225-85056226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6969092	chr7:85056240-85056241	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1589707	chr7:85056320-85056321	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182743799	chr7:85056392-85056393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115397072	chr7:85056398-85056399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573978358	chr7:85056408-85056409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187779637	chr7:85056426-85056427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1589706	chr7:85056432-85056433	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs578245784	chr7:85056503-85056504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143195700	chr7:85056569-85056570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563863968	chr7:85056585-85056586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376505499	chr7:85056600-85056601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572242915	chr7:85056637-85056638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531087195	chr7:85056652-85056653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193134438	chr7:85056701-85056702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561601990	chr7:85056722-85056723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1074312	chr7:85056750-85056751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547063830	chr7:85056771-85056772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1114589	chr7:85056781-85056782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376667342	chr7:85056835-85056836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1074311	chr7:85056853-85056854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569520862	chr7:85056882-85056883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2463486	chr7:85056884-85056885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85055000-85056200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:85055000-85057200	Enhancers	HepG2	liver
3	chr7:85055600-85056000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:85055600-85056200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:85055600-85056400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:85056000-85056400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:85056000-85057000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:85057000-85057200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:85080400-85082800	Enhancers	Fetal Heart	heart
10	chr7:85081600-85081800	Enhancers	Fetal Stomach	stomach
11	chr7:85082400-85090800	Weak transcription	Fetal Stomach	stomach
12	chr7:85083800-85085200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:85090800-85092000	Enhancers	Fetal Lung	lung
14	chr7:85090800-85092000	Enhancers	Fetal Stomach	stomach
15	chr7:85092000-85092200	Flanking Active TSS	Fetal Lung	lung
16	chr7:85092200-85092600	Enhancers	Fetal Lung	lung
17	chr7:85096000-85096400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:85097200-85097400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:85097600-85099200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:85098200-85098800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:85098200-85103400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:85098600-85098800	Enhancers	Primary hematopoietic stem cells	blood
23	chr7:85098800-85099200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:85099000-85100200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:85099200-85099600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:85099200-85100800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:85099600-85100800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:85099800-85101000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:85100000-85102800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:85100200-85101600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr7:85100200-85102200	Enhancers	Primary hematopoietic stem cells	blood
32	chr7:85100400-85101400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:85100600-85101400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr7:85100800-85101000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:85100800-85101600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:85101000-85101200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:85101000-85101200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:85101000-85101200	Enhancers	NHLF	lung
39	chr7:85101000-85101400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:85101000-85101800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:85101200-85101400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:85101200-85101800	Enhancers	Fetal Lung	lung
43	chr7:85101200-85101800	Enhancers	NH-A	brain
44	chr7:85101200-85109400	Weak transcription	NHLF	lung
45	chr7:85101400-85101800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:85101400-85101800	Enhancers	Colon Smooth Muscle	Colon
47	chr7:85101600-85101800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr7:85101800-85102000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:85101800-85102000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:85101800-85102200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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