Variant report

Variant	esv3379128
Chromosome Location	chr7:140188483-140191731
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000133606	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555546422	chr7:140188496-140188497	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574013032	chr7:140188497-140188498	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537466990	chr7:140188500-140188501	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541533204	chr7:140188511-140188512	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138258837	chr7:140188514-140188515	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2363825	chr7:140188611-140188612	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545709404	chr7:140188734-140188735	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190638893	chr7:140188758-140188759	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531242155	chr7:140188774-140188775	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146100274	chr7:140188808-140188809	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567864939	chr7:140188817-140188818	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571245949	chr7:140188833-140188834	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10239030	chr7:140188887-140188888	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538765658	chr7:140188910-140188911	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547120314	chr7:140188932-140188933	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs71213485	chr7:140188961-140188962	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547689179	chr7:140189011-140189012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113412344	chr7:140189046-140189047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539092603	chr7:140189049-140189050	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs557332544	chr7:140189108-140189109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs180836291	chr7:140189136-140189137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs4257939	chr7:140189176-140189177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10235810	chr7:140189183-140189184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs185244236	chr7:140189187-140189188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs10277322	chr7:140189189-140189190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535103900	chr7:140189191-140189192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373413775	chr7:140189198-140189199	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs578069276	chr7:140189204-140189205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111671465	chr7:140189213-140189214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545376562	chr7:140189236-140189237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563684553	chr7:140189237-140189238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575816385	chr7:140189243-140189244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190054399	chr7:140189247-140189248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs561301996	chr7:140189248-140189249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528719728	chr7:140189251-140189252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547081759	chr7:140189252-140189253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181295876	chr7:140189253-140189254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532873079	chr7:140189255-140189256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543466390	chr7:140189256-140189257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536922933	chr7:140189271-140189272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529865595	chr7:140189277-140189278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144798729	chr7:140189288-140189289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148574521	chr7:140189299-140189300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs576825170	chr7:140189305-140189306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs199766788	chr7:140189320-140189321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200444479	chr7:140189324-140189325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs386718469	chr7:140189336-140189337	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541171275	chr7:140189348-140189349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567693233	chr7:140189392-140189393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs578116769	chr7:140189412-140189413	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140179800-140198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:140185400-140192800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:140185400-140197000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:140185800-140188600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:140185800-140198000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:140188000-140188600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:140188200-140188600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:140188200-140189000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:140188200-140189200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:140188400-140188800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:140188400-140188800	Enhancers	K562	blood
12	chr7:140188400-140189000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr7:140188400-140189200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:140188600-140189000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:140188800-140189000	Flanking Active TSS	K562	blood
16	chr7:140189000-140189200	Enhancers	K562	blood
17	chr7:140189000-140194800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:140189200-140192800	Weak transcription	K562	blood
19	chr7:140189200-140194600	Weak transcription	Primary monocytes fromperipheralblood	blood

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