Variant report

Variant	esv21174
Chromosome Location	chr7:65587800-65591945
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	chr7:65590412-65591463	HepG2	liver:	n/a	n/a
2	ATF1	chr7:65591132-65591202	K562	blood:	n/a	n/a
3	CEBPB	chr7:65591107-65591439	HepG2	liver:	n/a	n/a
4	CEBPB	chr7:65590077-65590364	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr7:65591009-65591242	IMR90	lung:	n/a	n/a
6	CREB1	chr7:65591108-65591494	HepG2	liver:	n/a	n/a
7	CREB1	chr7:65591116-65591528	HepG2	liver:	n/a	n/a
8	EP300	chr7:65591335-65591337	HepG2	liver:	n/a	n/a
9	EP300	chr7:65589055-65593016	SK-N-SH	brain:	n/a	n/a
10	EP300	chr7:65589624-65591467	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr7:65589901-65591506	SK-N-SH_RA	brain:	n/a	n/a
12	EP300	chr7:65590995-65591417	HepG2	liver:	n/a	n/a
13	FOXA1	chr7:65591032-65591403	HepG2	liver:	n/a	n/a
14	FOXA1	chr7:65590979-65591417	HepG2	liver:	n/a	n/a
15	FOXA1	chr7:65590974-65591393	HepG2	liver:	n/a	n/a
16	FOXA1	chr7:65590251-65590793	HepG2	liver:	n/a	chr7:65590518-65590533
17	FOXA1	chr7:65590392-65590645	T-47D	breast:	n/a	chr7:65590518-65590533
18	FOXA1	chr7:65590264-65590732	HepG2	liver:	n/a	chr7:65590518-65590533
19	FOXA2	chr7:65590411-65590617	HepG2	liver:	n/a	n/a
20	FOXA2	chr7:65591116-65591330	HepG2	liver:	n/a	n/a
21	GATA2	chr7:65589995-65591421	SH-SY5Y	brain:	n/a	chr7:65590897-65590910
22	GATA2	chr7:65589604-65589778	SH-SY5Y	brain:	n/a	chr7:65589669-65589680
23	GATA3	chr7:65591677-65592081	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr7:65589751-65591451	SH-SY5Y	brain:	n/a	chr7:65590897-65590910
25	GATA3	chr7:65590040-65590963	SK-N-SH	brain:	n/a	chr7:65590897-65590910
26	GATA3	chr7:65590051-65590962	SK-N-SH	brain:	n/a	chr7:65590897-65590910
27	GATA3	chr7:65590051-65590723	MCF-7	breast:	n/a	n/a
28	GATA3	chr7:65590226-65590903	MCF-7	breast:	n/a	n/a
29	JUN	chr7:65591127-65591394	HepG2	liver:	n/a	chr7:65591167-65591180
30	JUND	chr7:65591056-65591402	HepG2	liver:	n/a	n/a
31	JUND	chr7:65591066-65591387	HepG2	liver:	n/a	n/a
32	JUND	chr7:65591151-65591173	K562	blood:	n/a	n/a
33	MAFF	chr7:65588163-65588428	K562	blood:	n/a	n/a
34	MAFF	chr7:65588140-65588443	HepG2	liver:	n/a	n/a
35	MAFK	chr7:65588133-65588467	IMR90	lung:	n/a	chr7:65588287-65588302
36	MAFK	chr7:65591077-65591329	HepG2	liver:	n/a	chr7:65591162-65591173 chr7:65591161-65591177 chr7:65591161-65591176 chr7:65591160-65591174 chr7:65591161-65591172 chr7:65591161-65591172
37	MAFK	chr7:65588172-65588425	K562	blood:	n/a	chr7:65588287-65588302
38	MAFK	chr7:65591153-65591254	HepG2	liver:	n/a	chr7:65591162-65591173 chr7:65591161-65591177 chr7:65591161-65591176 chr7:65591160-65591174 chr7:65591161-65591172 chr7:65591161-65591172
39	MAFK	chr7:65588119-65588464	HepG2	liver:	n/a	chr7:65588287-65588302
40	MAFK	chr7:65588229-65588400	Hela-S3	cervix:	n/a	chr7:65588287-65588302
41	MAFK	chr7:65588134-65588420	HepG2	liver:	n/a	chr7:65588287-65588302
42	MXI1	chr7:65591086-65591393	HepG2	liver:	n/a	n/a
43	MYC	chr7:65591095-65591101	K562	blood:	n/a	n/a
44	NR2F2	chr7:65591099-65591536	HepG2	liver:	n/a	n/a
45	NR2F2	chr7:65591160-65591523	HepG2	liver:	n/a	n/a
46	PBX3	chr7:65590097-65590565	SK-N-SH	brain:	n/a	n/a
47	PBX3	chr7:65590058-65590927	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr7:65588355-65588431	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:65589988-65591398	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr7:65589825-65590437	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:65578700..65580373-chr7:65590797..65592694,2	MCF-7	breast:
2	chr7:65578290..65580689-chr7:65586930..65590249,4	K562	blood:
3	chr7:65578668..65580540-chr7:65591809..65593353,2	K562	blood:
4	chr7:65590686..65593391-chr7:66020104..66022935,2	K562	blood:
5	chr7:65540851..65542511-chr7:65587706..65590251,2	MCF-7	breast:
6	chr7:65578872..65580434-chr7:65588749..65590693,2	K562	blood:
7	chr7:65581679..65583399-chr7:65586176..65588368,2	MCF-7	breast:
8	chr7:65586822..65589395-chr7:65593306..65595408,2	MCF-7	breast:

Variant related genes	Relation type
CRCP	TF binding region
ENSG00000126522	chromatin interactions
ENSG00000241258	chromatin interactions
ENSG00000232491	chromatin interactions
ENSG00000177418	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528703387	chr7:65587801-65587802	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs545233245	chr7:65587814-65587815	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs565384998	chr7:65587855-65587856	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571202699	chr7:65587890-65587891	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533877501	chr7:65587897-65587898	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs144457947	chr7:65587927-65587928	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201608351	chr7:65587928-65587929	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201666384	chr7:65587939-65587940	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200681298	chr7:65587942-65587943	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs199515487	chr7:65587943-65587944	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs201500838	chr7:65587946-65587947	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs79863925	chr7:65587957-65587958	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs184518805	chr7:65587980-65587981	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530955650	chr7:65588001-65588002	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550649108	chr7:65588010-65588011	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs116111149	chr7:65588011-65588012	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs570593412	chr7:65588027-65588028	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549280536	chr7:65588039-65588040	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375230375	chr7:65588198-65588199	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs565802030	chr7:65588209-65588210	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs4441996	chr7:65588220-65588221	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs557619243	chr7:65588225-65588226	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs13237386	chr7:65588233-65588234	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs187443009	chr7:65588290-65588291	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs191930956	chr7:65588334-65588335	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs373343185	chr7:65588361-65588362	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs114816502	chr7:65588362-65588363	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs184899501	chr7:65588370-65588371	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs147811163	chr7:65588388-65588389	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs141447912	chr7:65588412-65588413	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs189841903	chr7:65588413-65588414	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs545683409	chr7:65588436-65588437	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs181041575	chr7:65588526-65588527	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530992117	chr7:65588528-65588529	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs374710439	chr7:65588545-65588546	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs184520561	chr7:65588563-65588564	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs10271553	chr7:65588594-65588595	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs530050689	chr7:65588623-65588624	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs575049241	chr7:65588699-65588700	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs368867672	chr7:65588729-65588730	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs35581711	chr7:65588737-65588738	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs374989163	chr7:65588746-65588747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs559600964	chr7:65588758-65588759	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs536860361	chr7:65588810-65588811	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs528421152	chr7:65588852-65588853	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs556863339	chr7:65588892-65588893	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs188107407	chr7:65588901-65588902	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs551638375	chr7:65588904-65588905	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs371840886	chr7:65588912-65588913	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs13308751	chr7:65588919-65588920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:76)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65580600-65591000	Weak transcription	Ovary	ovary
2	chr7:65580600-65600600	Weak transcription	Aorta	Aorta
3	chr7:65580800-65606800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:65581000-65589600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:65581000-65595600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:65581000-65595600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:65581000-65595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:65581000-65597000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:65581000-65617200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:65581200-65590200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:65581200-65590600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:65581200-65596000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:65581400-65589600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:65581400-65590400	Weak transcription	Osteobl	bone
15	chr7:65581400-65595400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:65581400-65595800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:65581400-65596400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:65581600-65589400	Weak transcription	HSMMtube	muscle
19	chr7:65581600-65604800	Weak transcription	Colonic Mucosa	Colon
20	chr7:65581800-65589400	Weak transcription	HSMM	muscle
21	chr7:65581800-65589600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:65581800-65590200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:65581800-65595200	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:65581800-65595600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:65581800-65595800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:65582000-65595200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:65582000-65595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:65582400-65589600	Weak transcription	NHDF-Ad	bronchial
29	chr7:65582400-65608200	Weak transcription	Fetal Brain Male	brain
30	chr7:65582600-65595000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr7:65582600-65596400	Weak transcription	NH-A	brain
32	chr7:65583000-65589600	Weak transcription	Small Intestine	intestine
33	chr7:65583000-65594400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr7:65583000-65596000	Weak transcription	Thymus	Thymus
35	chr7:65583200-65592400	Weak transcription	Right Ventricle	heart
36	chr7:65583400-65592200	Weak transcription	Lung	lung
37	chr7:65583600-65593600	Weak transcription	Primary B cells from cord blood	blood
38	chr7:65583800-65589600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr7:65584200-65588200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:65584400-65589600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:65584400-65589800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:65584400-65590800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr7:65584400-65594400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:65584400-65596000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:65584600-65588200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:65584600-65589000	Weak transcription	Placenta	Placenta
47	chr7:65584600-65589400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr7:65584600-65589400	Weak transcription	Fetal Heart	heart
49	chr7:65584600-65589600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:65584600-65589600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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