Variant report

Variant	nsv889143
Chromosome Location	chr7:124977736-125042024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:280)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:280 , 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	ARID3A	chr7:125036847-125037232	K562	blood:	n/a	n/a
2	ATF1	chr7:125036628-125037136	K562	blood:	n/a	n/a
3	ATF2	chr7:124995766-124996416	GM12878	blood:	n/a	n/a
4	ATF2	chr7:124995927-124996331	GM12878	blood:	n/a	n/a
5	ATF3	chr7:125036857-125037111	K562	blood:	n/a	n/a
6	BATF	chr7:124996043-124996381	GM12878	blood:	n/a	n/a
7	BATF	chr7:124996009-124996436	GM12878	blood:	n/a	n/a
8	BCL11A	chr7:124995894-124996370	GM12878	blood:	n/a	n/a
9	BCL3	chr7:124995875-124996328	GM12878	blood:	n/a	n/a
10	BHLHE40	chr7:124995944-124996351	GM12878	blood:	n/a	n/a
11	CEBPB	chr7:124988349-124988457	K562	blood:	n/a	n/a
12	CEBPB	chr7:125013289-125013418	K562	blood:	n/a	chr7:125013342-125013353 chr7:125013340-125013353 chr7:125013340-125013351 chr7:125013340-125013353 chr7:125013340-125013353
13	CEBPB	chr7:125010917-125011228	HepG2	liver:	n/a	chr7:125011072-125011083
14	CEBPB	chr7:125021399-125021663	IMR90	lung:	n/a	n/a
15	CEBPB	chr7:125010980-125011205	A549	lung:	n/a	chr7:125011072-125011083
16	CEBPB	chr7:124988292-124988456	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr7:125013215-125013415	HepG2	liver:	n/a	chr7:125013342-125013353 chr7:125013340-125013353 chr7:125013340-125013351 chr7:125013340-125013353 chr7:125013340-125013353
18	CEBPB	chr7:124989938-124990049	A549	lung:	n/a	chr7:124990012-124990025
19	CEBPD	chr7:125036863-125037248	K562	blood:	n/a	n/a
20	CHD2	chr7:124996022-124996326	GM12878	blood:	n/a	n/a
21	CTCF	chr7:125023460-125023610	HEK293	kidney:	n/a	n/a
22	CTCF	chr7:125004000-125004150	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr7:125023494-125023677	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr7:125023480-125023630	GM06990	blood:	n/a	n/a
25	CTCF	chr7:125023480-125023630	GM12864	blood:	n/a	n/a
26	CTCF	chr7:125023462-125023650	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr7:125023500-125023650	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:125023200-125023350	GM06990	blood:	n/a	n/a
29	CTCF	chr7:125023494-125023651	MCF-7	breast:	n/a	n/a
30	CTCF	chr7:125023480-125023630	HCPEpiC	choroid plexus:	n/a	n/a
31	CTCF	chr7:125023480-125023630	GM12866	blood:	n/a	n/a
32	CTCF	chr7:125023460-125023610	GM12869	blood:	n/a	n/a
33	CTCF	chr7:125023489-125023615	GM10248	blood:	n/a	n/a
34	CTCF	chr7:125023501-125023661	GM13977	blood:	n/a	n/a
35	CTCF	chr7:125023460-125023610	HMEC	breast:	n/a	n/a
36	CTCF	chr7:125023400-125023550	Caco-2	colon:	n/a	n/a
37	CTCF	chr7:125023480-125023630	HepG2	liver:	n/a	n/a
38	CTCF	chr7:125023480-125023630	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr7:125023460-125023610	HepG2	liver:	n/a	n/a
40	CTCF	chr7:125023440-125023590	GM06990	blood:	n/a	n/a
41	CTCF	chr7:125023520-125023670	NHEK	skin:	n/a	n/a
42	CTCF	chr7:125023520-125023670	HRE	kidney:	n/a	n/a
43	CTCF	chr7:125023420-125023570	HRE	kidney:	n/a	n/a
44	CTCF	chr7:125023480-125023630	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr7:125023480-125023630	HCT-116	colon:	n/a	n/a
46	CTCF	chr7:125023532-125023607	MCF-7	breast:	n/a	n/a
47	CTCF	chr7:125023500-125023650	BE2_C	brain:	n/a	n/a
48	CTCF	chr7:125023520-125023670	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr7:125023513-125023661	K562	blood:	n/a	n/a
50	CTCF	chr7:125023540-125023690	HEEpiC	esophagus:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:123483979..123486169-chr7:125020238..125022477,2	K562	blood:
2	chr7:125037857..125040245-chr7:125044740..125047619,2	K562	blood:
3	chr7:124979372..124981820-chr7:124985278..124987442,3	K562	blood:
4	chr7:124980320..124982022-chr7:124985560..124987145,2	K562	blood:
5	chr7:125003566..125005765-chr7:125027328..125029861,2	K562	blood:
6	chr7:125014089..125016137-chr7:125017840..125020682,3	K562	blood:
7	chr7:125014089..125016137-chr7:125017840..125020682,3	K562	blood:
8	chr7:125023517..125024026-chr7:125310752..125311652,2	MCF-7	breast:
9	chr3:108533640..108534622-chr7:125014752..125015433,2	MCF-7	breast:
10	chr7:124558834..124561175-chr7:124980135..124981921,2	K562	blood:
11	chr7:124965414..124966985-chr7:125006930..125009873,2	K562	blood:
12	chr7:125003566..125005765-chr7:125027328..125029861,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPAM1-9	chr7:124985879-124986251	NONHSAT123107
2	lnc-SPAM1-5	chr7:124987179-124987261	ENSG00000237764.2
3	lnc-SPAM1-8	chr7:124985023-124985431	NONHSAT123106
4	lnc-SPAM1-5	chr7:125003489-125003570	NONHSAT123102
5	lnc-SPAM1-5	chr7:125003489-125003570	NR_110188
6	lnc-SPAM1-5	chr7:124987179-124987261	NR_110188
7	lnc-SPAM1-5	chr7:125019112-125019375	NR_110188
8	lnc-SPAM1-5	chr7:125019112-125019375	NONHSAT123102
9	lnc-SPAM1-5	chr7:125019112-125019375	ENSG00000237764.2
10	lnc-SPAM1-5	chr7:125003489-125003570	ENSG00000237764.2
11	lnc-SPAM1-5	chr7:124987179-124987261	NONHSAT123102

No data

Variant related genes	Relation type
ENSG00000227847	TF binding region
ENSG00000234071	TF binding region
ENSG00000227847	chromatin interactions
ENSG00000106302	chromatin interactions

Extended variants
information (count: 1496 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1496 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7795867	chr7:124977736-124977737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573050261	chr7:124977776-124977777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547627082	chr7:124977827-124977828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564521783	chr7:124977838-124977839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533472023	chr7:124977852-124977853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549966817	chr7:124977915-124977916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557625166	chr7:124977918-124977919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577706466	chr7:124978006-124978007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529333991	chr7:124978007-124978008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549383516	chr7:124978129-124978130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62482061	chr7:124978137-124978138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566017983	chr7:124978146-124978147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180952583	chr7:124978186-124978187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80005959	chr7:124978192-124978193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201204001	chr7:124978202-124978203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557932474	chr7:124978207-124978208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112210937	chr7:124978208-124978209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543146422	chr7:124978240-124978241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73719380	chr7:124978248-124978249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187158843	chr7:124978294-124978295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192513734	chr7:124978304-124978305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542250789	chr7:124978305-124978306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112416034	chr7:124978339-124978340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556942423	chr7:124978341-124978342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552542416	chr7:124978346-124978347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181658236	chr7:124978362-124978363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150427121	chr7:124978368-124978369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147706288	chr7:124978399-124978400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79789330	chr7:124978487-124978488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79095066	chr7:124978498-124978499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543973657	chr7:124978500-124978501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186231410	chr7:124978501-124978502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529397380	chr7:124978543-124978544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115496156	chr7:124978578-124978579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576945032	chr7:124978611-124978612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540364408	chr7:124978624-124978625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566030047	chr7:124978706-124978707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528401686	chr7:124978722-124978723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542191695	chr7:124978727-124978728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190698869	chr7:124978794-124978795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559624336	chr7:124978819-124978820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571439495	chr7:124978909-124978910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536879515	chr7:124978917-124978918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142438904	chr7:124978968-124978969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567065942	chr7:124978977-124978978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146302843	chr7:124978992-124978993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182578674	chr7:124979002-124979003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572464805	chr7:124979084-124979085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75009521	chr7:124979119-124979120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377275186	chr7:124979154-124979155	Enhancers Weak transcription	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124962000-124984400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:124977200-124978000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:124979000-124979200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:124985800-124986400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:124987000-124988200	Enhancers	HUVEC	blood vessel
6	chr7:124995000-124996000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:124995600-124999400	Enhancers	HUVEC	blood vessel
8	chr7:124995800-124996800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:124995800-124999000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:124996000-124996200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:124996000-124996600	Enhancers	NH-A	brain
12	chr7:124996000-124997000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:124996400-124997600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:124996600-124997000	Weak transcription	NH-A	brain
15	chr7:124996800-124997800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:124997000-124997200	Enhancers	NH-A	brain
17	chr7:124997000-124999000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:124997200-125003800	Weak transcription	NH-A	brain
19	chr7:124997400-124999000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:124997600-124998400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:124997800-124998000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:125003800-125004400	Enhancers	NH-A	brain
23	chr7:125004800-125005000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:125015400-125016400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:125015400-125017000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:125015800-125017200	Enhancers	Brain Germinal Matrix	brain
27	chr7:125021400-125023800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:125023800-125028000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:125028000-125029000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:125029000-125031000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:125031000-125031200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr7:125031000-125031400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:125031200-125032400	Enhancers	HUVEC	blood vessel
34	chr7:125031200-125036200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:125032200-125032400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:125034200-125034400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:125034200-125034400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:125034600-125035800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:125034600-125035800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:125035800-125036400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:125035800-125039200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:125035800-125039800	Enhancers	Primary hematopoietic stem cells	blood
43	chr7:125036200-125038600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr7:125036400-125037600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:125036400-125037800	Enhancers	K562	blood
46	chr7:125037600-125039800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:125039000-125039800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:125039400-125039800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:125039400-125039800	Enhancers	Cortex derived primary cultured neurospheres	brain

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