Variant report

Variant	esv2761117
Chromosome Location	chr7:140582100-140594085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:140587968-140588207	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:140591144-140591252	K562	blood:	n/a	n/a
3	ATF1	chr7:140589590-140589816	K562	blood:	n/a	n/a
4	CCNT2	chr7:140589534-140589980	K562	blood:	n/a	chr7:140589659-140589668
5	CEBPB	chr7:140587967-140588273	HepG2	liver:	n/a	n/a
6	CEBPB	chr7:140587966-140588235	IMR90	lung:	n/a	n/a
7	CEBPB	chr7:140588473-140588671	K562	blood:	n/a	chr7:140588585-140588596
8	CEBPB	chr7:140588531-140588625	HepG2	liver:	n/a	chr7:140588585-140588596
9	CEBPB	chr7:140588035-140588258	A549	lung:	n/a	n/a
10	CEBPB	chr7:140587982-140588232	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr7:140589395-140589913	K562	blood:	n/a	n/a
12	CEBPB	chr7:140587993-140588245	K562	blood:	n/a	n/a
13	CEBPB	chr7:140589484-140589865	K562	blood:	n/a	n/a
14	CHD2	chr7:140589599-140589710	K562	blood:	n/a	n/a
15	CUX1	chr7:140588008-140588251	K562	blood:	n/a	n/a
16	CUX1	chr7:140583309-140583379	K562	blood:	n/a	n/a
17	EBF1	chr7:140583000-140583433	GM12878	blood:	n/a	n/a
18	EBF1	chr7:140585385-140585387	GM12878	blood:	n/a	n/a
19	ELK1	chr7:140583004-140583155	GM12878	blood:	n/a	n/a
20	EP300	chr7:140589452-140589908	K562	blood:	n/a	n/a
21	EP300	chr7:140589504-140589726	K562	blood:	n/a	n/a
22	FOS	chr7:140587938-140588253	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr7:140587963-140588268	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr7:140587990-140588273	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr7:140587986-140588182	MCF10A-Er-Src	breast:	n/a	n/a
26	GATA2	chr7:140589416-140589919	K562	blood:	n/a	n/a
27	GATA2	chr7:140592773-140592946	SH-SY5Y	brain:	n/a	chr7:140592896-140592906
28	GATA3	chr7:140587160-140587292	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr7:140588025-140588059	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr7:140592754-140592985	SH-SY5Y	brain:	n/a	chr7:140592896-140592906
31	JUN	chr7:140587972-140588255	HepG2	liver:	n/a	n/a
32	JUND	chr7:140585851-140586146	HepG2	liver:	n/a	n/a
33	JUND	chr7:140587953-140588295	HepG2	liver:	n/a	chr7:140588124-140588135
34	JUND	chr7:140587997-140588212	K562	blood:	n/a	chr7:140588124-140588135
35	KAP1	chr7:140589476-140590017	K562	blood:	n/a	n/a
36	MAFF	chr7:140589026-140589266	K562	blood:	n/a	chr7:140589136-140589154
37	MAFF	chr7:140589017-140589276	HepG2	liver:	n/a	chr7:140589136-140589154
38	MAFK	chr7:140590999-140591001	K562	blood:	n/a	n/a
39	MAFK	chr7:140589042-140589219	K562	blood:	n/a	chr7:140589137-140589152
40	MAFK	chr7:140589647-140589752	K562	blood:	n/a	n/a
41	MAFK	chr7:140589014-140589267	IMR90	lung:	n/a	chr7:140589137-140589152
42	MAFK	chr7:140588990-140589301	HepG2	liver:	n/a	chr7:140589137-140589152
43	MAFK	chr7:140589044-140589257	HepG2	liver:	n/a	chr7:140589137-140589152
44	MAX	chr7:140589540-140589838	K562	blood:	n/a	n/a
45	MAX	chr7:140589502-140589854	K562	blood:	n/a	n/a
46	MAZ	chr7:140589579-140589726	K562	blood:	n/a	n/a
47	MXI1	chr7:140583261-140583363	GM12878	blood:	n/a	n/a
48	MXI1	chr7:140589530-140589758	K562	blood:	n/a	n/a
49	MYC	chr7:140590273-140590346	K562	blood:	n/a	n/a
50	MYC	chr7:140589596-140589714	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:140583613..140585330-chr7:140588993..140590809,2	K562	blood:
2	chr7:140588144..140589724-chr7:140618968..140621680,2	K562	blood:
3	chr7:140586780..140588546-chr7:140616185..140618447,2	K562	blood:
4	chr7:140589226..140590844-chr7:140624439..140626444,2	MCF-7	breast:
5	chr7:140559633..140561782-chr7:140587885..140590240,2	MCF-7	breast:
6	chr7:140588302..140590134-chr7:140608160..140610912,2	K562	blood:
7	chr7:140585371..140588493-chr7:140589347..140593837,4	K562	blood:
8	chr7:140585371..140588493-chr7:140589347..140593837,4	K562	blood:
9	chr7:140581979..140583708-chr7:140590896..140592469,2	K562	blood:
10	chr7:140589437..140591945-chr7:140623059..140625802,2	K562	blood:
11	chr7:140581979..140583708-chr7:140590896..140592469,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271932	TF binding region
ENSG00000271932	chromatin interactions
ENSG00000157764	chromatin interactions

Extended variants
information (count: 368 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538016664	chr7:140582110-140582111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76503734	chr7:140582141-140582142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78880301	chr7:140582172-140582173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6975596	chr7:140582191-140582192	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568556646	chr7:140582236-140582237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535527277	chr7:140582239-140582240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554137777	chr7:140582268-140582269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546859944	chr7:140582299-140582300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540138828	chr7:140582321-140582322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192932479	chr7:140582326-140582327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185132296	chr7:140582332-140582333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543591576	chr7:140582392-140582393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113650193	chr7:140582439-140582440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190433436	chr7:140582451-140582452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574200850	chr7:140582599-140582600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7786128	chr7:140582623-140582624	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560110281	chr7:140582624-140582625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192417712	chr7:140582625-140582626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34960659	chr7:140582675-140582676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546106382	chr7:140582741-140582742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564358097	chr7:140582747-140582748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531576869	chr7:140582800-140582801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573282245	chr7:140582806-140582807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549997882	chr7:140582814-140582815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541190995	chr7:140582815-140582816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555516920	chr7:140582843-140582844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568212647	chr7:140582847-140582848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs398006615	chr7:140582850-140582851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13437830	chr7:140582854-140582855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184828694	chr7:140582915-140582916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568427955	chr7:140582954-140582955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138568895	chr7:140582972-140582973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74540444	chr7:140582996-140582997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539425557	chr7:140583025-140583026	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs552712561	chr7:140583030-140583031	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs558062389	chr7:140583083-140583084	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs113099278	chr7:140583097-140583098	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs537304490	chr7:140583105-140583106	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs189403389	chr7:140583166-140583167	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs541879426	chr7:140583167-140583168	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs180673141	chr7:140583200-140583201	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs541931396	chr7:140583203-140583204	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs553565757	chr7:140583256-140583257	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs370760720	chr7:140583319-140583320	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs149307157	chr7:140583349-140583350	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs545473839	chr7:140583383-140583384	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs564419693	chr7:140583491-140583492	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs531639908	chr7:140583521-140583522	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs543698045	chr7:140583533-140583534	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs144590669	chr7:140583556-140583557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	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
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140547200-140582400	Weak transcription	Fetal Stomach	stomach
2	chr7:140549000-140594400	Weak transcription	Fetal Thymus	thymus
3	chr7:140563600-140586000	Weak transcription	K562	blood
4	chr7:140568000-140586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:140570600-140606000	Weak transcription	Fetal Intestine Small	intestine
6	chr7:140570800-140583000	Weak transcription	Primary B cells from cord blood	blood
7	chr7:140570800-140584200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:140573600-140587800	Weak transcription	Left Ventricle	heart
9	chr7:140576600-140585600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr7:140577000-140586800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:140577000-140591000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:140577400-140585600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:140577600-140586400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:140577600-140589600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:140577600-140598600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:140578600-140585600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:140578800-140586200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:140580000-140584000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:140580400-140603200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:140581400-140585600	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:140581400-140587400	Weak transcription	Lung	lung
22	chr7:140581600-140585800	Weak transcription	Primary T cells from cord blood	blood
23	chr7:140581600-140586000	Weak transcription	Brain Angular Gyrus	brain
24	chr7:140581800-140585600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:140581800-140585600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:140581800-140585800	Weak transcription	Brain Anterior Caudate	brain
27	chr7:140581800-140586000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:140581800-140587200	Weak transcription	Fetal Heart	heart
29	chr7:140581800-140588000	Weak transcription	Pancreas	Pancrea
30	chr7:140582000-140583000	Weak transcription	GM12878-XiMat	blood
31	chr7:140582000-140585200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:140582400-140582600	Enhancers	Gastric	stomach
33	chr7:140582600-140599600	Weak transcription	Gastric	stomach
34	chr7:140583000-140583400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:140583000-140583600	Enhancers	Primary B cells from cord blood	blood
36	chr7:140583000-140584000	Enhancers	GM12878-XiMat	blood
37	chr7:140583200-140583400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:140583600-140585800	Weak transcription	Primary B cells from cord blood	blood
39	chr7:140583800-140584000	Enhancers	Primary B cells from peripheral blood	blood
40	chr7:140584000-140585200	Weak transcription	GM12878-XiMat	blood
41	chr7:140584000-140589600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:140584200-140585600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:140585200-140587400	Enhancers	GM12878-XiMat	blood
44	chr7:140585200-140589000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr7:140585600-140585800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr7:140585600-140586000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:140585600-140586000	Enhancers	Brain Hippocampus Middle	brain
48	chr7:140585600-140586000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr7:140585600-140586400	Enhancers	Adipose Nuclei	Adipose
50	chr7:140585600-140586400	Enhancers	Brain Cingulate Gyrus	brain

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