Variant report

Variant	nsv525729
Chromosome Location	chr7:124538036-124549573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:124547598-124547886	K562	blood:	n/a	n/a
2	CTCF	chr7:124546245-124546280	GM13977	blood:	n/a	n/a
3	CTCF	chr7:124541294-124541326	Lung_OC	lung:	n/a	n/a
4	FOS	chr7:124548350-124548589	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr7:124548362-124548560	MCF10A-Er-Src	breast:	n/a	n/a
6	IRF1	chr7:124547685-124547796	K562	blood:	n/a	n/a
7	IRF1	chr7:124549045-124549062	K562	blood:	n/a	n/a
8	IRF1	chr7:124539465-124539758	K562	blood:	n/a	chr7:124539614-124539626 chr7:124539615-124539625
9	IRF3	chr7:124538643-124538744	GM12878	blood:	n/a	n/a
10	JUND	chr7:124547594-124547844	HepG2	liver:	n/a	n/a
11	MAFF	chr7:124538649-124538905	K562	blood:	n/a	n/a
12	MAFK	chr7:124538713-124538881	HepG2	liver:	n/a	n/a
13	MAFK	chr7:124538704-124538962	IMR90	lung:	n/a	n/a
14	MAFK	chr7:124538706-124538877	HepG2	liver:	n/a	n/a
15	MAFK	chr7:124539405-124539587	HepG2	liver:	n/a	chr7:124539455-124539470
16	POLR2A	chr7:124549565-124549731	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr7:124549128-124549177	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr7:124538615-124538692	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr7:124540752-124540879	A549	lung:	n/a	n/a
20	POLR2A	chr7:124541002-124541033	A549	lung:	n/a	n/a
21	RFX5	chr7:124538923-124539064	K562	blood:	n/a	n/a
22	SPI1	chr7:124544628-124544825	GM12891	blood:	n/a	n/a
23	SPI1	chr7:124538502-124538746	HL-60	blood:	n/a	chr7:124538603-124538610 chr7:124538600-124538613
24	SPI1	chr7:124544644-124544805	GM12878	blood:	n/a	n/a
25	SPI1	chr7:124544641-124544814	GM12891	blood:	n/a	n/a
26	SPI1	chr7:124544647-124544822	K562	blood:	n/a	n/a
27	SPI1	chr7:124538523-124538746	GM12891	blood:	n/a	chr7:124538603-124538610 chr7:124538600-124538613
28	STAT3	chr7:124539492-124539692	MCF10A-Er-Src	breast:	n/a	chr7:124539534-124539548
29	STAT3	chr7:124538520-124538801	MCF10A-Er-Src	breast:	n/a	n/a
30	YY1	chr7:124540881-124541021	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:124538660-124538710	HCT-116	colon:	n/a
2	chr7:124538660-124538710	RPTEC	kidney:	n/a
3	chr7:124538660-124538710	HRPEpiC	eye:	n/a
4	chr7:124538660-124538710	HMEC	breast:	n/a
5	chr7:124538660-124538710	K562	blood:	n/a
6	chr7:124538660-124538710	MCF10A-Er-Src	breast:	n/a
7	chr7:124538660-124538710	U87	brain:	n/a
8	chr7:124538660-124538710	GM19239	blood:	n/a
9	chr7:124538660-124538710	HIPEpiC	eye:	n/a
10	chr7:124538660-124538710	ProgFib	skin:	n/a
11	chr7:124538660-124538710	HNPCEpiC	eye:	n/a
12	chr7:124538660-124538710	H1-hESC	embryonic stem cell:	embryo
13	chr7:124538660-124538710	HEK293	kidney:	embryo
14	chr7:124538660-124538710	BE2_C	brain:	n/a
15	chr7:124538660-124538710	Hela-S3	cervix:	n/a
16	chr7:124538660-124538710	ECC-1	luminal epithelium:	n/a
17	chr7:124538660-124538710	HAEpiC	amniotic membrane:	n/a
18	chr7:124538660-124538710	LNCaP	prostate:	n/a
19	chr7:124538660-124538710	GM12892	blood:	n/a
20	chr7:124538660-124538710	AG09309	skin:	n/a
21	chr7:124538660-124538710	MCF-7	breast:	n/a
22	chr7:124538660-124538710	PrEC	prostate:	n/a
23	chr7:124538660-124538710	T-47D	breast:	n/a
24	chr7:124538660-124538710	HL-60	blood:	n/a
25	chr7:124538660-124538710	HCPEpiC	choroid plexus:	n/a
26	chr7:124538660-124538710	NT2-D1	testis:	n/a
27	chr7:124538660-124538710	AG04450	lung:	fetal
28	chr7:124538660-124538710	Caco-2	colon:	n/a
29	chr7:124538660-124538710	SK-N-SH	brain:	n/a
30	chr7:124538660-124538710	NB4	blood:	n/a
31	chr7:124538660-124538710	BJ	skin:	n/a
32	chr7:124538660-124538710	SK-N-SH_RA	brain:	n/a
33	chr7:124538660-124538710	ovcar-3	ovarian:	n/a
34	chr7:124538660-124538710	Hepatocyte	liver:	n/a
35	chr7:124538660-124538710	AG04449	skin:	fetal
36	chr7:124538660-124538710	GM12891	blood:	n/a
37	chr7:124538660-124538710	IMR90	lung:	fetal
38	chr7:124538660-124538710	PFSK-1	brain:	n/a
39	chr7:124538660-124538710	AoSMC	blood vessel:	n/a
40	chr7:124538660-124538710	GM06990	blood:	n/a
41	chr7:124538660-124538710	GM12878	blood:	n/a
42	chr7:124538660-124538710	AG10803	skin:	n/a
43	chr7:124538660-124538710	HCM	heart:	n/a
44	chr7:124538660-124538710	HCF	heart:	n/a
45	chr7:124538660-124538710	HEEpiC	esophagus:	n/a
46	chr7:124538660-124538710	A549	lung:	n/a
47	chr7:124538660-124538710	Jurkat	blood:	n/a
48	chr7:124538660-124538710	SKMC	muscle:	n/a
49	chr7:124538660-124538710	PANC-1	pancreas:	n/a
50	chr7:124538660-124538710	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:124549176..124550827-chr7:124558825..124561252,2	K562	blood:
2	chr7:124537777..124539651-chr7:124561497..124564089,2	K562	blood:
3	chr7:124546480..124548936-chr7:124561383..124564382,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR37-2	chr7:124538315-124538428	NONHSAT123087

No data

Variant related genes	Relation type
POT1	TF binding region
POT1	CpG island

Extended variants
information (count: 441 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10228682	chr7:124538036-124538037	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113158058	chr7:124538048-124538049	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530666771	chr7:124538097-124538098	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs538877509	chr7:124538136-124538137	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs34825434	chr7:124538143-124538144	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs74429678	chr7:124538153-124538154	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs201066236	chr7:124538157-124538158	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs368403597	chr7:124538198-124538199	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181089255	chr7:124538265-124538266	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10229152	chr7:124538285-124538286	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs546594175	chr7:124538424-124538425	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs373501996	chr7:124538437-124538438	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs57468586	chr7:124538446-124538447	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555057021	chr7:124538529-124538530	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs12537161	chr7:124538590-124538591	Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs185517233	chr7:124538594-124538595	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs33964002	chr7:124538615-124538616	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372087275	chr7:124538711-124538712	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs571865689	chr7:124538743-124538744	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs537651790	chr7:124538787-124538788	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs117317353	chr7:124538818-124538819	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs574101457	chr7:124538823-124538824	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542785592	chr7:124538856-124538857	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs189539919	chr7:124538878-124538879	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs142019389	chr7:124538885-124538886	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs546907402	chr7:124538892-124538893	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs564837719	chr7:124538919-124538920	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs573125590	chr7:124538972-124538973	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs530576461	chr7:124539023-124539024	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs544014194	chr7:124539034-124539035	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs376648385	chr7:124539047-124539048	Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs560619910	chr7:124539067-124539068	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs544954241	chr7:124539272-124539273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550599124	chr7:124539298-124539299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529774047	chr7:124539339-124539340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368752503	chr7:124539348-124539349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150658143	chr7:124539351-124539352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181025188	chr7:124539401-124539402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532056358	chr7:124539461-124539462	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs187159996	chr7:124539482-124539483	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs571987695	chr7:124539517-124539518	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs537614650	chr7:124539518-124539519	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs551175135	chr7:124539527-124539528	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs567800112	chr7:124539532-124539533	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs10252039	chr7:124539537-124539538	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs10236403	chr7:124539542-124539543	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs573146409	chr7:124539543-124539544	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs560605630	chr7:124539547-124539548	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs74322075	chr7:124539559-124539560	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs529665379	chr7:124539701-124539702	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Myxofibrosarcoma	20639860	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124462200-124568200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:124466400-124540800	Weak transcription	Right Ventricle	heart
3	chr7:124466400-124562200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:124466600-124563400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:124466800-124540800	Weak transcription	Gastric	stomach
6	chr7:124484200-124554400	Weak transcription	HUVEC	blood vessel
7	chr7:124490800-124540600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:124498200-124568800	Weak transcription	Brain Anterior Caudate	brain
9	chr7:124506600-124540600	Weak transcription	Aorta	Aorta
10	chr7:124506800-124540600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:124522800-124568400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr7:124527600-124562200	Weak transcription	A549	lung
13	chr7:124527600-124569000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:124527600-124569000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:124527800-124540400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:124527800-124540800	Weak transcription	Placenta	Placenta
17	chr7:124528000-124567400	Weak transcription	HepG2	liver
18	chr7:124528400-124542800	Weak transcription	Spleen	Spleen
19	chr7:124528600-124538800	Weak transcription	Brain Germinal Matrix	brain
20	chr7:124528800-124540400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:124529200-124542800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:124529800-124553400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:124529800-124564400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:124530000-124540800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:124530000-124569000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:124530200-124540600	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:124530400-124540600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:124531000-124542600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:124531200-124540600	Weak transcription	Left Ventricle	heart
30	chr7:124531400-124540600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:124531400-124540600	Weak transcription	Fetal Intestine Large	intestine
32	chr7:124531400-124540800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:124531400-124559800	Weak transcription	Ovary	ovary
34	chr7:124531600-124540800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:124531800-124540600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:124532000-124540600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:124532000-124569000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:124532200-124540600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:124532200-124540800	Weak transcription	Adipose Nuclei	Adipose
40	chr7:124532400-124538600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:124532400-124540400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:124532400-124540600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:124532400-124540600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:124532400-124540600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:124532600-124552400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr7:124532600-124562600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr7:124532600-124568400	Weak transcription	NHDF-Ad	bronchial
48	chr7:124532600-124568800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:124532600-124569000	Weak transcription	HSMM	muscle
50	chr7:124532800-124540200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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