Variant report

Variant	nsv1023458
Chromosome Location	chr7:85230414-85275878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr7:85231581-85231835	K562	blood:	n/a	n/a
2	CEBPB	chr7:85270494-85270984	IMR90	lung:	n/a	chr7:85270598-85270609
3	CEBPB	chr7:85251491-85251687	A549	lung:	n/a	n/a
4	CEBPB	chr7:85260085-85260722	A549	lung:	n/a	n/a
5	CEBPB	chr7:85266363-85266490	A549	lung:	n/a	n/a
6	CEBPB	chr7:85255501-85255560	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr7:85270520-85270828	A549	lung:	n/a	chr7:85270598-85270609
8	CEBPB	chr7:85260254-85260658	A549	lung:	n/a	n/a
9	CEBPB	chr7:85270485-85270737	HepG2	liver:	n/a	chr7:85270598-85270609
10	CEBPB	chr7:85270505-85271102	Hela-S3	cervix:	n/a	chr7:85270598-85270609
11	CEBPB	chr7:85260258-85260678	HepG2	liver:	n/a	n/a
12	CEBPB	chr7:85266317-85266413	HepG2	liver:	n/a	n/a
13	CEBPB	chr7:85270672-85270912	MCF-7	breast:	n/a	n/a
14	CTCF	chr7:85230660-85230810	BE2_C	brain:	n/a	n/a
15	CTCF	chr7:85271180-85271330	NHLF	lung:	n/a	n/a
16	E2F4	chr7:85234118-85234180	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F6	chr7:85265203-85265680	H1-hESC	embryonic stem cell:	n/a	n/a
18	EP300	chr7:85256564-85258188	SK-N-SH	brain:	n/a	n/a
19	EP300	chr7:85270693-85271031	Hela-S3	cervix:	n/a	n/a
20	EP300	chr7:85260054-85260829	A549	lung:	n/a	chr7:85260419-85260429
21	EP300	chr7:85258605-85259106	A549	lung:	n/a	n/a
22	EP300	chr7:85260185-85260689	A549	lung:	n/a	chr7:85260419-85260429
23	EP300	chr7:85231529-85231799	SK-N-SH_RA	brain:	n/a	n/a
24	FOS	chr7:85260242-85260988	HUVEC	blood vessel:	n/a	chr7:85260780-85260792
25	FOSL2	chr7:85260115-85260641	A549	lung:	n/a	n/a
26	FOXA1	chr7:85260147-85260546	T-47D	breast:	n/a	n/a
27	FOXA1	chr7:85260189-85260617	HepG2	liver:	n/a	n/a
28	FOXA1	chr7:85259980-85260720	A549	lung:	n/a	n/a
29	FOXA1	chr7:85260171-85260579	T-47D	breast:	n/a	n/a
30	FOXA1	chr7:85260167-85260564	HepG2	liver:	n/a	n/a
31	FOXA1	chr7:85260114-85260655	A549	lung:	n/a	n/a
32	FOXA1	chr7:85260123-85260651	HepG2	liver:	n/a	n/a
33	FOXA2	chr7:85257292-85257641	A549	lung:	n/a	n/a
34	FOXA2	chr7:85260027-85260622	A549	lung:	n/a	n/a
35	FOXA2	chr7:85260159-85260631	A549	lung:	n/a	n/a
36	FOXA2	chr7:85260148-85260613	HepG2	liver:	n/a	n/a
37	GATA2	chr7:85260239-85260800	HUVEC	blood vessel:	n/a	n/a
38	GATA2	chr7:85257363-85257952	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr7:85270609-85271175	SK-N-SH	brain:	n/a	n/a
40	GATA3	chr7:85260150-85260614	MCF-7	breast:	n/a	n/a
41	GATA3	chr7:85260165-85260633	A549	lung:	n/a	n/a
42	GATA3	chr7:85260164-85260555	T-47D	breast:	n/a	n/a
43	GATA3	chr7:85260039-85260851	A549	lung:	n/a	n/a
44	GATA3	chr7:85257683-85258000	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr7:85270805-85270991	SH-SY5Y	brain:	n/a	n/a
46	GATA3	chr7:85259795-85259886	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr7:85260206-85260406	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr7:85267741-85267812	SH-SY5Y	brain:	n/a	n/a
49	GATA3	chr7:85258782-85259164	MCF-7	breast:	n/a	n/a
50	GATA3	chr7:85258541-85259242	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:85253799..85255323-chr7:85392933..85394931,2	K562	blood:
2	chr7:85224212..85226454-chr7:85229348..85230972,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA3D-4	chr7:85265329-85265660	NONHSAT121800

No data

Variant related genes	Relation type
ENSG00000227785	TF binding region

Extended variants
information (count: 699 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:699 , 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	rs10226186	chr7:85230414-85230415	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543126550	chr7:85230458-85230459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561682567	chr7:85230460-85230461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142484177	chr7:85230509-85230510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201517995	chr7:85230510-85230511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10241839	chr7:85230511-85230512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147986887	chr7:85230537-85230538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140759080	chr7:85230550-85230551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73706362	chr7:85230562-85230563	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551383629	chr7:85230569-85230570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561640348	chr7:85230571-85230572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569686921	chr7:85230588-85230589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189347535	chr7:85230604-85230605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35781424	chr7:85230629-85230630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180891907	chr7:85230648-85230649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549065951	chr7:85230658-85230659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567718529	chr7:85230673-85230674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554864656	chr7:85230740-85230741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569089347	chr7:85230761-85230762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567206843	chr7:85230762-85230763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187329594	chr7:85230771-85230772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190887916	chr7:85230785-85230786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201069975	chr7:85230807-85230808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577900158	chr7:85230813-85230814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201730629	chr7:85230846-85230847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538962276	chr7:85230848-85230849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569291194	chr7:85230858-85230859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541087993	chr7:85230876-85230877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559495197	chr7:85230889-85230890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144708722	chr7:85230900-85230901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181664604	chr7:85230910-85230911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565230115	chr7:85230926-85230927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185898190	chr7:85230996-85230997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375137027	chr7:85231018-85231019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147370507	chr7:85231019-85231020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561422387	chr7:85231030-85231031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551546208	chr7:85231032-85231033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573302433	chr7:85231036-85231037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73377973	chr7:85231143-85231144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143840143	chr7:85231170-85231171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34034085	chr7:85231221-85231222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113025870	chr7:85231227-85231228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533232000	chr7:85231229-85231230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371515612	chr7:85231235-85231236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551722357	chr7:85231250-85231251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73377974	chr7:85231282-85231283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569786944	chr7:85231325-85231326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530538489	chr7:85231350-85231351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146149989	chr7:85231359-85231360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567331917	chr7:85231400-85231401	Enhancers	n/a	n/a	Overlapped CNVs	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85228800-85230600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:85228800-85230800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:85229000-85230600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:85229000-85230800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:85229400-85230600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:85229400-85232200	Enhancers	Fetal Lung	lung
7	chr7:85229600-85230600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:85229600-85230600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:85229800-85230800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:85230000-85230600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:85230000-85230600	Enhancers	Brain Hippocampus Middle	brain
12	chr7:85230400-85230800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:85230800-85232200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:85244000-85244400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:85244000-85244400	ZNF genes & repeats	Pancreas	Pancrea
16	chr7:85244200-85244600	Enhancers	Esophagus	oesophagus
17	chr7:85246600-85252000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr7:85248600-85249400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:85248800-85249400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:85248800-85249600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:85249000-85249200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr7:85249200-85249600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr7:85249200-85249800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr7:85249400-85250400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:85249400-85250400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:85249600-85250000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:85249600-85250000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr7:85249800-85251600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr7:85250000-85250200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr7:85250000-85251400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:85250200-85251400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr7:85250400-85250600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:85250400-85250800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:85250400-85251800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:85250600-85251000	Active TSS	Primary hematopoietic stem cells	blood
36	chr7:85250600-85251000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:85251000-85251800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:85251400-85251600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr7:85257200-85257400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:85257400-85257600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:85257400-85257600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:85257400-85257600	ZNF genes & repeats	Pancreas	Pancrea
43	chr7:85257400-85257600	Enhancers	Right Atrium	heart
44	chr7:85257400-85257800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:85257400-85258200	Enhancers	A549	lung
46	chr7:85257400-85260000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:85257600-85257800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:85258200-85258600	Weak transcription	A549	lung
49	chr7:85258600-85258800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:85258600-85259400	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links