Variant report

Variant	nsv970913
Chromosome Location	chr7:99877685-99904859
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:248)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:248 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr7:99889833-99890086	GM12878	blood:	n/a	n/a
2	BATF	chr7:99902075-99902343	GM12878	blood:	n/a	n/a
3	BATF	chr7:99901285-99901496	GM12878	blood:	n/a	n/a
4	BATF	chr7:99889699-99890163	GM12878	blood:	n/a	n/a
5	BATF	chr7:99900718-99901136	GM12878	blood:	n/a	n/a
6	BATF	chr7:99902780-99903057	GM12878	blood:	n/a	n/a
7	BATF	chr7:99902062-99903018	GM12878	blood:	n/a	n/a
8	BATF	chr7:99889728-99890156	GM12878	blood:	n/a	n/a
9	BATF	chr7:99901300-99901503	GM12878	blood:	n/a	n/a
10	BATF	chr7:99900740-99901050	GM12878	blood:	n/a	n/a
11	BATF	chr7:99902374-99902726	GM12878	blood:	n/a	n/a
12	BCL11A	chr7:99899365-99899765	GM12878	blood:	n/a	n/a
13	BCL11A	chr7:99889722-99890078	GM12878	blood:	n/a	n/a
14	BCL11A	chr7:99902084-99902502	GM12878	blood:	n/a	chr7:99902302-99902311
15	BCL11A	chr7:99900720-99901137	GM12878	blood:	n/a	n/a
16	BCL11A	chr7:99903987-99904347	GM12878	blood:	n/a	n/a
17	BCL11A	chr7:99901627-99901859	GM12878	blood:	n/a	n/a
18	BCL11A	chr7:99900777-99901048	GM12878	blood:	n/a	n/a
19	BCL11A	chr7:99902046-99902591	GM12878	blood:	n/a	chr7:99902302-99902311
20	BCL11A	chr7:99889658-99890197	GM12878	blood:	n/a	n/a
21	BCL11A	chr7:99899420-99899769	GM12878	blood:	n/a	n/a
22	BCL11A	chr7:99901601-99901842	GM12878	blood:	n/a	n/a
23	BCL11A	chr7:99902728-99903004	GM12878	blood:	n/a	n/a
24	CBX3	chr7:99889691-99890054	K562	blood:	n/a	n/a
25	CEBPB	chr7:99882084-99882308	IMR90	lung:	n/a	chr7:99882189-99882200
26	CEBPB	chr7:99893016-99893151	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr7:99882132-99882257	HepG2	liver:	n/a	chr7:99882189-99882200
28	CEBPB	chr7:99882111-99882313	A549	lung:	n/a	chr7:99882189-99882200
29	CEBPB	chr7:99882137-99882255	K562	blood:	n/a	chr7:99882189-99882200
30	CTCF	chr7:99888440-99888590	GM12869	blood:	n/a	n/a
31	CTCF	chr7:99897220-99897290	GM10248	blood:	n/a	n/a
32	CTCF	chr7:99892774-99892882	LNCaP	prostate:	n/a	chr7:99892819-99892837
33	CTCF	chr7:99888382-99888451	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:99888220-99888370	GM12871	blood:	n/a	n/a
35	CTCF	chr7:99888431-99888475	GM10248	blood:	n/a	n/a
36	CTCF	chr7:99882563-99882615	LNCaP	prostate:	n/a	n/a
37	EBF1	chr7:99902013-99902505	GM12878	blood:	n/a	n/a
38	EBF1	chr7:99904117-99904433	GM12878	blood:	n/a	n/a
39	EBF1	chr7:99889636-99890170	GM12878	blood:	n/a	n/a
40	EBF1	chr7:99884705-99885088	GM12878	blood:	n/a	n/a
41	EBF1	chr7:99900722-99901177	GM12878	blood:	n/a	chr7:99900991-99901000
42	EBF1	chr7:99889684-99890142	GM12878	blood:	n/a	n/a
43	EBF1	chr7:99902022-99902661	GM12878	blood:	n/a	n/a
44	EBF1	chr7:99902828-99903059	GM12878	blood:	n/a	n/a
45	EBF1	chr7:99900664-99901176	GM12878	blood:	n/a	chr7:99900991-99901000
46	EBF1	chr7:99901282-99901494	GM12878	blood:	n/a	n/a
47	ELF1	chr7:99887922-99888123	K562	blood:	n/a	n/a
48	EP300	chr7:99901965-99903124	GM12878	blood:	n/a	n/a
49	EP300	chr7:99903604-99903853	GM12878	blood:	n/a	n/a
50	EP300	chr7:99889682-99890142	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99904850-99904900	HEEpiC	esophagus:	n/a
2	chr7:99904850-99904900	HUVEC	blood vessel:	n/a
3	chr7:99904850-99904900	HMEC	breast:	n/a
4	chr7:99904850-99904900	PrEC	prostate:	n/a
5	chr7:99904850-99904900	HRCEpiC	kidney:	n/a
6	chr7:99904850-99904900	K562	blood:	n/a
7	chr7:99904850-99904900	SK-N-SH_RA	brain:	n/a
8	chr7:99904850-99904900	Hela-S3	cervix:	n/a
9	chr7:99904850-99904900	NH-A	brain:	n/a
10	chr7:99904850-99904900	HCT-116	colon:	n/a
11	chr7:99904850-99904900	SKMC	muscle:	n/a
12	chr7:99904850-99904900	Caco-2	colon:	n/a
13	chr7:99904850-99904900	GM12892	blood:	n/a
14	chr7:99904850-99904900	HepG2	liver:	n/a
15	chr7:99904850-99904900	SK-N-SH	brain:	n/a
16	chr7:99904850-99904900	PANC-1	pancreas:	n/a
17	chr7:99904850-99904900	HCM	heart:	n/a
18	chr7:99904850-99904900	GM19239	blood:	n/a
19	chr7:99904850-99904900	AG10803	skin:	n/a
20	chr7:99904850-99904900	Jurkat	blood:	n/a
21	chr7:99904850-99904900	AG04450	lung:	fetal
22	chr7:99904850-99904900	NHBE	bronchial:	n/a
23	chr7:99904850-99904900	SK-N-MC	brain:	n/a
24	chr7:99904850-99904900	BJ	skin:	n/a
25	chr7:99904850-99904900	AG09309	skin:	n/a
26	chr7:99904850-99904900	IMR90	lung:	fetal
27	chr7:99904850-99904900	HL-60	blood:	n/a
28	chr7:99904850-99904900	HCF	heart:	n/a
29	chr7:99904850-99904900	AG09319	gingival:	n/a
30	chr7:99904850-99904900	ProgFib	skin:	n/a
31	chr7:99904850-99904900	NB4	blood:	n/a
32	chr7:99904850-99904900	T-47D	breast:	n/a
33	chr7:99904850-99904900	NT2-D1	testis:	n/a
34	chr7:99904850-99904900	HRE	kidney:	n/a
35	chr7:99904850-99904900	CMK	blood:	n/a
36	chr7:99904850-99904900	H1-hESC	embryonic stem cell:	embryo
37	chr7:99904850-99904900	PFSK-1	brain:	n/a
38	chr7:99904850-99904900	HAEpiC	amniotic membrane:	n/a
39	chr7:99904850-99904900	BE2_C	brain:	n/a
40	chr7:99904850-99904900	ovcar-3	ovarian:	n/a
41	chr7:99904850-99904900	A549	lung:	n/a
42	chr7:99904850-99904900	ECC-1	luminal epithelium:	n/a
43	chr7:99904850-99904900	GM12878	blood:	n/a
44	chr7:99904850-99904900	AoSMC	blood vessel:	n/a
45	chr7:99904850-99904900	U87	brain:	n/a
46	chr7:99904850-99904900	MCF10A-Er-Src	breast:	n/a
47	chr7:99904850-99904900	SAEC	small airway:	n/a
48	chr7:99904850-99904900	AG04449	skin:	fetal
49	chr7:99904850-99904900	LNCaP	prostate:	n/a
50	chr7:99904850-99904900	NHDF-neo	bronchial:	n/a

No data

Variant related genes	Relation type
SPDYE3	TF binding region
SPDYE3	CpG island

Extended variants
information (count: 865 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:865 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562492599	chr7:99877686-99877687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186061511	chr7:99877715-99877716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371300490	chr7:99877730-99877731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62482194	chr7:99877733-99877734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545315414	chr7:99877822-99877823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375812504	chr7:99877829-99877830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560753135	chr7:99877831-99877832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116955337	chr7:99877849-99877850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542917700	chr7:99877912-99877913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148129732	chr7:99877915-99877916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144113945	chr7:99877969-99877970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201475011	chr7:99878046-99878047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10644546	chr7:99878048-99878049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35662512	chr7:99878067-99878068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550125853	chr7:99878072-99878073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372218407	chr7:99878088-99878089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571684532	chr7:99878092-99878093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542480051	chr7:99878125-99878126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532650758	chr7:99878160-99878161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200287882	chr7:99878166-99878167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547542841	chr7:99878168-99878169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190818757	chr7:99878173-99878174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181604860	chr7:99878176-99878177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560627144	chr7:99878177-99878178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186302195	chr7:99878210-99878211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192356079	chr7:99878222-99878223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537473127	chr7:99878227-99878228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556108219	chr7:99878267-99878268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182446816	chr7:99878306-99878307	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs187967284	chr7:99878307-99878308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553407241	chr7:99878315-99878316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572317276	chr7:99878327-99878328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542807374	chr7:99878370-99878371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373138682	chr7:99878378-99878379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147319714	chr7:99878382-99878383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531866475	chr7:99878385-99878386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543721103	chr7:99878390-99878391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531336205	chr7:99878526-99878527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191109926	chr7:99878536-99878537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182669322	chr7:99878595-99878596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547878245	chr7:99878627-99878628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566167204	chr7:99878635-99878636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527530922	chr7:99878650-99878651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549178623	chr7:99878699-99878700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567600102	chr7:99878776-99878777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568214201	chr7:99878830-99878831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56261594	chr7:99878912-99878913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55664207	chr7:99878933-99878934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56055729	chr7:99878934-99878935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538158926	chr7:99878936-99878937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99870200-99880600	Weak transcription	Fetal Lung	lung
2	chr7:99870200-99884200	Weak transcription	Aorta	Aorta
3	chr7:99870200-99916800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:99870200-99932800	Weak transcription	Ovary	ovary
5	chr7:99870400-99885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:99870400-99886200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:99870400-99901600	Weak transcription	Thymus	Thymus
8	chr7:99870400-99904600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:99870400-99917000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:99870400-99917000	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:99870400-99917600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:99870400-99923400	Weak transcription	Fetal Intestine Large	intestine
13	chr7:99870400-99932600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:99870600-99879800	Weak transcription	A549	lung
15	chr7:99870600-99880800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:99870600-99886400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:99870600-99887800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:99870600-99888400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:99870600-99888600	Weak transcription	GM12878-XiMat	blood
20	chr7:99870600-99890000	Weak transcription	Fetal Thymus	thymus
21	chr7:99870600-99898800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:99870600-99904600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:99870600-99916800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:99870600-99923400	Weak transcription	Spleen	Spleen
25	chr7:99870600-99926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:99870600-99932800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:99870800-99882400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:99870800-99904600	Weak transcription	Dnd41	blood
29	chr7:99871000-99886200	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:99871000-99917000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:99871000-99923000	Weak transcription	Brain Germinal Matrix	brain
32	chr7:99873600-99877800	Strong transcription	Fetal Stomach	stomach
33	chr7:99874000-99878000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:99874200-99879000	Weak transcription	Fetal Intestine Small	intestine
35	chr7:99874400-99932800	Weak transcription	Brain Angular Gyrus	brain
36	chr7:99875800-99877800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:99875800-99879400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:99876000-99881000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:99877800-99883600	Weak transcription	Fetal Stomach	stomach
40	chr7:99877800-99883800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:99879000-99879800	Strong transcription	Fetal Intestine Small	intestine
42	chr7:99879800-99883800	Weak transcription	Fetal Intestine Small	intestine
43	chr7:99880400-99917800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:99880800-99881200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:99881000-99882000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:99881200-99883600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:99882000-99903000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr7:99882200-99885400	Weak transcription	Esophagus	oesophagus
49	chr7:99882200-99897200	Weak transcription	Primary T cells from cord blood	blood
50	chr7:99882800-99883000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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