Variant report

Variant	esv3475414
Chromosome Location	chr7:140187483-140191781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140178521..140180888-chr7:140189014..140190989,2	K562	blood:
2	chr7:140177025..140179254-chr7:140191554..140194261,2	K562	blood:
3	chr7:140188257..140190605-chr7:140190654..140192972,3	K562	blood:
4	chr7:140188257..140190605-chr7:140190654..140192972,3	K562	blood:
5	chr7:140176571..140180021-chr7:140187634..140190989,3	K562	blood:

Variant related genes	Relation type
ENSG00000133606	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs34249766	chr7:140187486-140187487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548065561	chr7:140187571-140187572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542601833	chr7:140187576-140187577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140036656	chr7:140187642-140187643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566329883	chr7:140187676-140187677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561227024	chr7:140187690-140187691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540144255	chr7:140187773-140187774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs551968139	chr7:140187813-140187814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs143176944	chr7:140187854-140187855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576364769	chr7:140187855-140187856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188954670	chr7:140187881-140187882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116774569	chr7:140187921-140187922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574366893	chr7:140187966-140187967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148263575	chr7:140187967-140187968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553735302	chr7:140188024-140188025	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374495127	chr7:140188038-140188039	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545707291	chr7:140188047-140188048	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112974898	chr7:140188051-140188052	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576041440	chr7:140188052-140188053	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76747220	chr7:140188053-140188054	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569619617	chr7:140188057-140188058	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182034685	chr7:140188058-140188059	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565058934	chr7:140188066-140188067	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141371264	chr7:140188068-140188069	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543889306	chr7:140188084-140188085	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562087501	chr7:140188087-140188088	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529391098	chr7:140188146-140188147	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs6950304	chr7:140188233-140188234	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559799257	chr7:140188235-140188236	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114702055	chr7:140188249-140188250	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532433485	chr7:140188275-140188276	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547466354	chr7:140188283-140188284	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552129768	chr7:140188287-140188288	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185394400	chr7:140188316-140188317	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs115740018	chr7:140188363-140188364	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73163266	chr7:140188380-140188381	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568020699	chr7:140188386-140188387	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2885921	chr7:140188419-140188420	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553317643	chr7:140188435-140188436	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548610706	chr7:140188436-140188437	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570283304	chr7:140188454-140188455	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542717516	chr7:140188465-140188466	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539327826	chr7:140188466-140188467	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557669677	chr7:140188474-140188475	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576181899	chr7:140188476-140188477	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543204960	chr7:140188478-140188479	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372151550	chr7:140188479-140188480	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555546422	chr7:140188496-140188497	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574013032	chr7:140188497-140188498	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537466990	chr7:140188500-140188501	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Bladder cancer	21909424	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
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19826477	CNVD
Melanoma	19509136	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140179800-140187800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:140179800-140198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:140180000-140188200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:140184400-140188000	Enhancers	K562	blood
5	chr7:140185400-140192800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:140185400-140197000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:140185600-140187800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:140185600-140187800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:140185600-140188000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:140185800-140188200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:140185800-140188200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:140185800-140188200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:140185800-140188600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:140185800-140198000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:140186000-140188400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr7:140186200-140188200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:140187800-140188000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:140187800-140188000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:140187800-140188400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:140188000-140188400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:140188000-140188400	Flanking Active TSS	K562	blood
22	chr7:140188000-140188600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:140188200-140188400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:140188200-140188400	Enhancers	Stomach Smooth Muscle	stomach
25	chr7:140188200-140188600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:140188200-140189000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:140188200-140189200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr7:140188400-140188800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:140188400-140188800	Enhancers	K562	blood
30	chr7:140188400-140189000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr7:140188400-140189200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:140188600-140189000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:140188800-140189000	Flanking Active TSS	K562	blood
34	chr7:140189000-140189200	Enhancers	K562	blood
35	chr7:140189000-140194800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:140189200-140192800	Weak transcription	K562	blood
37	chr7:140189200-140194600	Weak transcription	Primary monocytes fromperipheralblood	blood

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